The Cerebellum in Behavioral Neurology and Neuropsychiatry by Jeremy D

Home , Beat (charity), Episodic ataxia, Neuropsychiatry

Gen_0801_01-12.qxd:Layout 1 4/22/08 4:28 PM Page 1 Generations

The Official Publication of the National Ataxia Foundation Volume 36, Number 1 Spring 2008 The Cerebellum in Behavioral Neurology and Neuropsychiatry By Jeremy D. Schmahmann, MD Dr. Jeremy D. Schmahmann received his medical degree at the University of Cape Town Medical School in South Africa. After completing his residency in the Neurological Unit of the Boston City Hospital and his fellowship in the Department of Anatomy and Neurobiology at Boston University School of Medicine, he joined the faculty of the Massachusetts General Hospital in 1989. At MGH he is a Director of the Ataxia Unit, a member of the Cognitive/Behavioral Neurology Unit and Geriatric Neurobehavioral Clinic, and Neurology Clerkship Director. Dr. Schmahmann is an Associate Professor of Neurology at Harvard Medical School, and a scholar in the Academy at Harvard. In 2000 he was the recipient of the Norman Geschwind Prize for research in the Behavioral Neurology Society and he has been cited in the The Best Doctors in America since 1998. Dr. Schmahmann’s research interests focus on the role of the cerebellum in cognition and emotion. He is the medical advisor to the New England Ataxia Support Group and a member of the Medical and Research Advisory Board of the National Ataxia Foundation. The following article was taken from Dr. Schmahmann’s presentation at the 2007 NAF Annual Member- ship Meeting in Memphis, Tennessee. Patients and families dealing with ataxia know and vibrant area of research, the cognitive well that disorders of the cerebellum produce neuroscience of the cerebellum, including motor difficulties including wide-based and anatomical and behavioral studies in animal unsteady, or ataxic, gait; incoordination, or models, functional imaging studies, and clinical dysmetria, of the arms and legs; articulation investigations in patients. It is now critical that impairment, or dysarthria; and eye movement we consider the role of the cerebellum in the abnormalities that interfere with vision, among realm of behavioral neurology and neuro- other problems. Patients, more than their doc- psychiatry – the study of interactions between tors, have also long suspected that there is more the physical brain, and emotions and intellectual to cerebellar function than motor control issues abilities. alone. They have wondered whether problems There are two reasons why it is important to they experience in the areas of cognition and consider these nonmotor aspects of cerebellum emotion may be related to the cerebellar function and dysfunction. First, it is important damage, and not simply a reaction to chronic disability. This question is at the heart of a new Continued on page 3 Gen_0801_01-12.qxd:Layout 1 4/22/08 4:28 PM Page 2

Page 2 Generations Spring 2008

Please direct correspondence to: Generations Staff: National Ataxia Foundation Julie Braun ...... Financial Director 2600 Fernbrook Lane, Suite 119 Sue Hagen...... Outreach Coordinator Minneapolis, MN 55447-4752 Becky Kowalkowski ...... Patient Services Director Phone: (763) 553-0020 Mike Parent ...... Executive Director FAX: (763) 553-0167 Lori Shogren ...... Special Projects Coordinator Internet: www.ataxia.org Donna Gruetzmacher ...... Advisor E-mail: [email protected] Design, Production and Printing...... Leader Printing Generations is published by the National Ataxia Foundation, Inc., Minneapolis, MN. Copyright 2008 by the National Ataxia Foundation, Inc. All rights reserved. We ask that other publications contact us for permission to reprint any article from Generations.

Disclaimer The National Ataxia Foundation does not endorse products, services, or manufacturers. Those that are mentioned in Generations are included only for your information. The NAF assumes no liability whatsoever for the use or contents of any product or service mentioned in the newsletter. Table of Contents

Annual Membership Meeting Articles (cont.) Ride Ataxia II Reaches Vegas ...... 13 Ataxia Center Established at Thank You Athena! ...... 13 Johns Hopkins University ...... 11 2008 Annual Membership Caregiver’s Corner ...... 30 Meeting (AMM) Review ...... 24 Tissue Donation ...... 31 Quotes and Top Three Lists News & Notes ...... 36 from the 2008 AMM ...... 26 Membership Topics 2009 AMM Announcement ...... 27 Chapter and Support Group News ...... 32 Wanted: Photos ...... 31 NAF Merchandise...... 37 A Special Thank You ...... 47 NAF Chapters, Support Groups Research and Ambassadors Listings ...... 38 Research Subjects Needed ...... 6 Calendar of Events...... 44 NAF Research Grant Summaries ...... 14 Memorials and In Your Honor...... 46 Articles Personal Stories and Poems My Life So Far: 50 Years Featured Board Member: David Zilles...... 7 of Friedreich’s Ataxia...... 22 From the Desk of the Executive Director ...... 8 A Final Act of Selflessness ...... 28 Second International AIM ...... 9 Ataxia Doesn’t Stop Her: Write Your Letter of Intent NOW! ...... 10 Kayla Prather’s Story...... 45

You Could Be Published! Generations is published quarterly by the National Ataxia Foundation to inform others of the latest research, ataxia chapters and support groups, events and other topics related to all the forms of ataxia. Personal stories from those affected by ataxia are an important part of the publication. Stories submitted should be no longer than 1,200 words. If possible, tell how NAF has made an impact in your life or situation. Submit stories to [email protected] to be considered for publication. Gen_0801_01-12.qxd:Layout 1 4/22/08 4:28 PM Page 3

Spring 2008 Generations Page 3

The Cerebellum... cerebral association areas important for intellect; Continued from page 1 and the midline of the cerebellum (the vermis), is linked with the brain’s limbic system that is to recognize, diagnose and treat conditions that heavily engaged in drive, mood, and feelings. affect the quality of life of patients with ataxic Experimental studies of the cerebellum disorders. These problems may arise from dam- In functional imaging studies using MRI scans, age to the cerebellum itself, from abnormalities motor actions activate the cerebellum mostly in in other brain structures that may be affected in the anterior lobe (especially lobules IV and V), conditions such as the spinocerebellar ataxias and in a part near the bottom of the cerebellum (SCAs), or from the stress of coping with the called lobule VIII. (There are ten lobules, or sub- disability. Second, if we can understand the divisions of the cerebellum, numbered in the wider role of the cerebellum in the nervous Roman numeral style). Thinking tasks, such as system, and the extent to which the cerebellum language, memory, or planning, activate differ- contributes to neuropsychiatric symptoms even ent parts of the posterior lobe that have expanded in the absence of ataxia, it may open the way to massively through evolution, and comprise the developing new treatments for many disabling major part of the human cerebellum. Functions mental health disorders. that have an emotional tone, or that produce Cerebellar highways in the brain anxiety or pain, mostly activate the cerebellar There is an anatomical basis to the cerebellar vermis. Thus, there is more to cerebellar activa- contribution to nonmotor function. Hard-wired tion than movement alone. The activations by connections link the cerebellum with areas of the motor, cognitive, and limbic studies are located cerebral cortex essential for complex thoughts, in different places in cerebellum – the anterior actions, and emotions. The cerebellum receives lobe, posterior lobe, and vermis respectively. information from, and sends signals back to, Behavioral studies in animals provide support the prefrontal cortex that is necessary for plan- for these conclusions derived from anatomical and ning, abstract thinking, multi-tasking, logical imaging studies. We produced focal damage in reasoning, organizing and verbal expression; the monkeys in parts of the cerebellum thought to be parietal lobe that is essential for visual-spatial linked with intellect but not with movement. The functions, like finding your way and being aware animals were able to control their limbs normally. of your body in space; the temporal lobe that is But they had trouble with tasks of mental flexi- engaged in understanding spoken concepts; and bility – the kind of problem that characterizes the cingulate gyrus and parahippocampal forma- what is termed, executive dysfunction. tion necessary for motivation, mood, emotional Lessons learned from cerebellar patients processing and certain forms of memory. In By studying adults and children with damage other words, the cerebellum is linked up with confined to the cerebellum from stroke, tumor, the motor cortex that governs movements, and and antibody-mediated attack, we showed clin- also with cerebral cortical areas that enable ical evidence of a relationship between the cere- the full range of human behaviors. Moreover, bellum and cognition. We described a cerebellar different parts of cerebellum are connected to cognitive affective syndrome (CCAS), including different parts of the cerebral cortex. The ante- impairments in executive function, visual-spatial rior lobe of the cerebellum (the part in front and analysis, and selected deficits in language skills, as at the top) is mostly connected to motor areas of well as changes in personality and behavior. the cerebral cortex. The posterior lobe of the cerebellum (at the back and underneath) talks to Continued on page 4 Gen_0801_01-12.qxd:Layout 1 4/22/08 4:28 PM Page 4

Page 4 Generations Spring 2008

The Cerebellum... Almost 40% of patients with multiple system Continued from page 3 atrophy of the cerebellar type (MSAc) have pathological laughing and crying, also known as These impairments resulted from injury to the pseudobulbar affect. These patients have exag- cerebellar posterior lobe, but not the anterior gerated emotional responses, either crying or lobe; and the dysregulation of affect was seen laughing, to stimuli that would not previously most notably when the cerebellar damage have produced such a reaction, or in a manner involved the midline (vermis) structures. We inappropriate for the context – laughing at sad have also seen the reverse situation, in adults with situations, or crying when in fact they feel happy. cerebellar stroke. We found that when the stroke The crying or laughing can be quite protracted, involves the cerebellar anterior lobe (linked with and can be distressing to the patient and family. motor regions of the cerebral cortex), patients Rarely, the laughing or giggling can feel like a have ataxia. But when the stroke avoids the relief to an MSAc patient, but this is unusual. anterior lobe and is confined to the lower parts of I have seen patients with damage to the vermis the posterior lobe, there is little or no ataxia. So (the limbic cerebellum) who develop panic dis- the cerebellar posterior lobe appears not to be order. One woman with a stroke became unable engaged in a major way with motor control, but to travel in a car because the motion of the does appear to be important in intellectual and vehicle induced vertigo and a sense of over- emotional processing. whelming panic. She recovered, and is back to These findings have immediate clinical her hobby of scuba diving. Another patient with relevance. Children who survive resection of atrophy of the vermis has a constellation of cerebellar tumors are challenged in their social incapacitating motion-induced vertigo and panic relationships and ability to handle the intellec- that has responded somewhat to medications. tual challenges at school, in addition to any Patients with cerebellar disorders frequently residual motor disability they may experience. notice difficulty with multi-tasking. This prob- Children with an abnormally developed, or lem is similar to that in the monkeys with underdeveloped, cerebellum have a range of cerebellar lesions, that have difficulty with men- motor deficits. They also have impairments in tal flexibility, switching from one mental idea to social-emotional behaviors, and cognitive deficits another. Cerebellar patients report they can do including language delay, to the point of one thing at a time, but when they try to multi- requiring the use of sign language in the early task, or keep track of different activities at the years. These children require substantial support same time, they are not successful. The auto- in the school system and from families. matic performance of these motor and cognitive Depression is frequent in people with ataxia, skills may be impaired in the cerebellar patient. not only because there is a medical problem that This may result from loss of the automaticity has affected quality of life, but also because cere- that relies on cerebellar function, and the ability bellum plays a role in our ability to modulate of cerebellum to smooth out and enhance emotional responses, and influence how we performance. respond to the environment. I have called this Non-cerebellar features in ataxia patients dysmetria of thought, similar to the term, Long-term memory is not usually lost in dysmetria of movement, used to describe the patients with purely cerebellar problems. instability of motor control leading to tremor, The cognitive impairments we see in the over- or under-reaching, and inaccuracy in the CCAS are different from memory loss that char- coordination of our motor actions. acterizes Alzheimer’s disease. There are some Gen_0801_01-12.qxd:Layout 1 4/22/08 4:28 PM Page 5

Spring 2008 Generations Page 5

circumstances in which long-term memory is The first is what I call “the need to know” im- impaired in patients with cerebellar disorders, perative. It is reassuring to patients and families however, and this brings us to the consideration to know that in the setting of a disorder, partic- of diseases that have a cerebellar component but ularly a neurodegenerative one in which we have that also involve other areas of the nervous not yet come up with the cure, that the kinds of system. Some of the SCAs are known to have challenges you face beyond motor control are pathological changes in regions of the cerebral not in your head, rather, they are in your brain. cortex involved in memory, so one has to be Second, we can do something about this. There careful about ascribing all cognitive deficits that is a long tradition in medicine and the brain arise in these patients to the cerebellum itself. sciences of treating symptoms to alleviate distress, The recently recognized Fragile X associated even when we cannot cure the underlying dis- tremor ataxia syndrome, for example, includes ease. That is a central role of the physician, and forgetfulness along with spatial disorientation one that you should expect from your doctor. So and loss of executive skills. The memory deficit without endorsing any off-label indication for may be too prominent to be a purely cerebellar any particular product, there is every reason to problem. consider the use of the newer antidepressant The cerebellum in non-ataxic disorders medications to treat depression, pathological laughing and crying that responds to these med- As the understanding of the cerebellar role in ications, memory enhancing medications that behavioral neurology and neuropsychiatry are used in the treatment of Alzheimer’s and matures, we are in position to pay closer atten- other degenerative disorders that affect memory. tion to findings suggesting a cerebellar role in These need to be studied, perhaps with the help dyslexia, attention deficit hyperactivity disorder, of NAF, in a collaborative manner in patient autism spectrum disorders, schizophrenia and populations across the country. Cognitive reha- developmental delay. When the cerebellum is bilitation strategies are routinely used in patient studied with anatomical tools that measure each with brain trauma and stroke. Physical therapy lobule of the cerebellum carefully, and compare can be beneficial in patients with ataxia, and cog- it against healthy control populations, it is nitive rehabilitation therapy for patients with apparent that there are differences in the cere- higher order deficits in the setting of ataxia can bellum between controls and individuals with also be helpful. Indeed, there is reason to believe these behaviorally defined conditions. There is that cerebellar disorder in patients may do better much work to be done in these areas, but now than patients with cerebral injury, because one we know that cerebellum is engaged in intellec- may be able to learn strategies to compensate for tual and emotional processing; that it seems to the automaticity that is lost when patients with be important for automaticity, learning, and cerebellar dysfunction lose the modulation of modulation of behaviors; that neurobehavioral mood and intellect. Medications have been used syndromes result from cerebellar legions; and in other patient populations for enhancement of that there is sufficient evidence to be interested executive function, and studies are needed to in the possibility of cerebellar modulation of evaluate whether this may be beneficial to ataxia higher order behaviors in these purely behavioral patients as well. disorders. If these issues of intellect and emotion seem What this means for you relevant to your own clinical situation, I urge you This new field of study of the cognitive neuro- to discuss them openly and frankly with your science of the cerebellum has direct clinical implications for the ataxia patient population. Continued on page 6 Gen_0801_01-12.qxd:Layout 1 4/22/08 4:28 PM Page 6

Page 6 Generations Spring 2008

The Cerebellum... care of him/herself during this marathon of Continued from page 5 dealing with cerebellar disorders. Some future directions doctor. If your doctor is not aware of this relationship between cerebellum and intellectual and Neurosurgical approaches using deep brain emotional processing, then suggest some articles stimulation, and the technique of non-invasive they could read to help them understand what transcranial magnetic stimulation (TMS), have you may be going through – including this one, been successfully used in intractable depression, and other select references below. The help of a but it remains to be shown whether these are good counselor can be invaluable to engage in reasonable approaches in the ataxia population. talk therapy. This is not a sign of weakness or We are currently embarking on a program of failure, but recognition that there are both brain- TMS of the cerebellum in patients with schizo- based issues and real-life social and psychological phrenia, based on my dysmetria of thought ramifications of the illness you are experiencing. theory, in the hope that enhancing cerebellar At the same time, don’t forget the phenomenon modulation of disordered regulation of emotion we now recognize well in the very different and cognition may improve this common and world of Alzheimer’s disease management, in disabling mental health problem. which caregiver burden is dangerous and should References be managed. We need to make sure that the Levisohn L, Cronin-Golomb A, Schmahmann JD. healthy partner, parent, or child is also taking Neuropsychological consequences of cerebellar tumor resection in children: Cerebellar cognitive affective syndrome in a pediatric population. Brain 2000; 123:1041-50. Research Parvizi J, Joseph J, Press DZ, Schmahmann JD. Pathological laughter and crying in patients with Subjects Needed multiple system atrophy-cerebellar type. Movement Disorders 2007; 22:798-803. Subjects sought for a questionnaire study Schmahmann JD. ed. The Cerebellum and Cogni- of changes in memory, thinking and deci- sion making skills in patients with SCA. tion. International Review of Neurobiology. Volume 47. The study is being conducted by Dr.’s S.H. San Diego, Academic Press. 1997. Subramony and Vicki Soukup at the Univer- Schmahmann JD. Disorders of the cerebellum. sity of Texas Medical Branch, Dept. of Ataxia, dysmetria of thought, and the cerebellar cog- Neurology, 301 University Blvd., Galveston, nitive affective syndrome. Journal of Neuropsychiatry TX, 77555-0539. and Clinical Neurosciences. 2004; 16: 367-378. The research involves filling out question- Schmahmann JD. The primary motor cerebellum is naires by both the patient and a close in the anterior lobe but not the posterior lobe. Evi- family member or caregiver. Those willing to dence from stroke patients. Neurology 2007; 68(12, participate must have a diagnosis by gene Suppl 1):A357. test of one of the following: SCA 1, 2, 3 Schmahmann JD and Pandya DN. Anatomic (Machado-Joseph disease), 6, 7, 8, 10, 12, 13, 14, or 17. Patients diagnosed as such organization of the basilar pontine projections from without a gene test but instead based on a prefrontal cortices in rhesus monkey. J.Neurosci. 1997; diagnosis in other family members will also 17:438-458. be considered. The questionnaires may Schmahmann JD and Sherman JC. The cerebellar take about an hour to complete. cognitive affective syndrome. Brain 1998; 121:561- If interested, contact Dr. Subramony at 579. the above address or by phone at (409) Schmahmann JD, Weilburg JB, Sherman JC. The 772-2646 for more information. neuropsychiatry of the cerebellum – insights from the clinic. The Cerebellum. 2007; 6:254-67. O Gen_0801_01-12.qxd:Layout 1 4/22/08 4:28 PM Page 7

Spring 2008 Generations Page 7 Featured Board Member of the NAF: David Zilles Dave Zilles attended Vanderbilt University Dave joined the National Ataxia Foundation’s where he received a Bachelors of Arts Degree in Board of Directors two years ago. He has been Mathematics. He had a 33-year career with IBM a very active board member and has brought var- which included several executive marketing and ious initiatives to the Board to help better serve sales positions. He retired in February 2004, and the ataxia community. Dave has a strong feeling has been residing in Atlanta, GA for 25 years. that the future of NAF lies within the young David and his wife Linda have been married adult ataxia community and wants to see more for 39 years. They have three children and three young adults get involved with the Foundation. grandchildren. Their youngest Dave stated, “I believe that with son, Jon, has Friedreich’s ataxia all the research available today that and was diagnosed at age 11. sometime in the future a treatment Jon began using a wheelchair at will be found.” He continued, “So about age 17. He learned to drive much has happened since I first with hand controls, graduated learned about FA in September from high school and went on of 1989. My family did not to Auburn University where know anything about ataxia and he graduated with a degree in we felt so alone until we attended Psychology. Jon was able to get our first NAF conference in around Auburn with the assistance New Orleans. We had the chance of his service dog, Mango, from to meet many wonderful people at the Canine Assistants organization our first meeting, including Jerry in Alpharetta, GA. Jon is currently Lawrence, the LeBlanc’s and most David Zilles living independently in his own importantly Earl McLaughlin and condo as a result of being on the Medicaid Inde- his family.” pendent Care Waiver, which provides him with Dave has been an outstanding NAF board personal assistance in the mornings and evenings. member and truly cares about the ataxia Dave is one of the founding members of the community. Although his family is affected by Greater Atlanta Ataxia Support Group and is Friedreich’s ataxia, Dave is an advocate to fami- currently one of its directors. In addition, he lies who have been impacted by all forms of serves on the Board of the State Independent ataxia. Dave concluded by stating, “It has always Living Council for Georgia in the position of been important to us to know that there is hope Treasurer. He has been very active in advocating and that others have been where you are and can for young adults with disabilities through the help you along the way. The National Ataxia Unlock the Waiting List organization which Foundation and the NAF support groups signif- advocates for the Independent Care Waiver icantly help in these important areas.” program by meeting with state legislators and We are truly grateful for Dave’s leadership, providing public testimony. Dave is a member of commitment, and dedication in giving ataxia the 2007-08 Partners in Policymaking class, families hope. We are honored to have Dave sponsored by the Georgia Governor’s Council Zilles on the NAF Board and are thankful for all on Developmental Disabilities, and serves on the he does in helping the ataxia community. Thank board of the MDA Seek-a-Miracle Foundation. you, Dave. O Gen_0801_01-12.qxd:Layout 1 4/22/08 4:28 PM Page 8

Page 8 Generations Spring 2008

From the Desk of the Executive Director The National Ataxia Foundation celebrated its one received a hundred-fold increase in support 51st Annual Membership Meeting, “Blazing a compared to the initial grant NAF awarded. Trail in Research,” which was held in Las Vegas on • Over the past nine years the National Ataxia March 28-30, 2008. The meeting was hosted by Foundation has awarded funding to 115 vital ataxia the Arizona Ataxia Support Group and was at- research studies in 10 countries. tended by the largest gathering of ataxians in the • From December 2004 to December of 2007, history of the organization. It was wonderful see- the Foundation made an ataxia research funding ing old friends and meeting new friends from commitment of more than $2,400,000. across the United States and throughout the world. • In 2007, NAF, FARA and Ride Ataxia com- Preceding the annual membership meeting, the bined forces to fund the first $100,000 Kyle Bryant Foundation hosted its Second International Ataxia Translational Research Award. Because of the Investigators Meeting (see story on page 9). This quality of the applications, three additional studies four-day meeting brought together approximately were co-funded by NAF and FARA. 120 world leading ataxia scientists, clinicians, and • Membership support and family fundraisers young investigators to share information, encour- continued to see increases in 2007. One family age collaboration and cooperation, and to help alone raised nearly $100,000 for ataxia research. accelerate world-wide research. We are grateful to • In 2007, Charities Navigator, America’s largest all these researchers for participating in this most independent evaluator of charities, awarded NAF important meeting and to our generous sponsors a 4-Star Rating out of a possible four stars for the who made this meeting possible. fourth consecutive year, giving an indication of At the 2008 NAF Annual Membership Meeting, sound management and solid fiscal responsibility. an overview of the previous year’s activities was Only 5% of the charities reviewed by Charities presented. Here are some of those highlights: Navigator receive four or more consecutive 4-Star • In December 2007 NAF made a research ratings. NAF was also selected as one of the “Top funding commitment of more than $850,000 and Ten” nonprofits with budgets under two million reviewed a total of 42 research applications. This is dollars. the largest number of applications considered in • NAF provided programs and services in all the history of NAF. 50 states and in 63 foreign countries. • In 2007 NAF awarded funding to 17 promis- • In 2007 NAF had 7,690,039 “hits” on its web ing ataxia research studies, including studies site with 691,088 visitors. 45% of the visitors came conducted in the United States, Italy, Portugal, from the United States with the remainder from Switzerland, Belgium, Austria, Australia and the 114 other countries, including Canada, Mexico, United Kingdom. Germany, Spain, Italy, France, Portugal, Greece, •In 2007 NAF added its fourth research Japan, India, Hong Kong, China, Australia, Brazil, program called the “NAF Friedreich’s Ataxia Peru, Cuba, South Korea, Pakistan, Russian Special Projects Award.” In late December 2007, Federation, Iran, Iraq, and Vietnam. NAF awarded its first $200,000 study through this •In 2007, through the initiative of the new NAF research program. Chesapeake Chapter of NAF and funding from the • A number of scientists who received support Gordon and Marilyn Macklin Foundation, the from NAF for fiscal year 2007 announced that National Ataxia Foundation awarded a three-year through support from NAF they had received $450,000 grant to Johns Hopkins for the estab- additional funding from NIH. Some of these lishment of the Johns Hopkins Ataxia Center. researchers received a five-year NIH grant and • In 2007 NAF continued to update and Gen_0801_01-12.qxd:Layout 1 4/22/08 4:28 PM Page 9

Spring 2008 Generations Page 9 Second International Ataxia Investigators’ Meeting (AIM)

By John Day, MD, PhD, Professor of Neurology & Pediatrics at the University of Minnesota Immediately preceding the 2008 NAF Annual occurs later in life. The first day’s program also Membership Meeting in Las Vegas, more than detailed the increasingly refined understanding 120 ataxia investigators from around the world of how genetic abnormalities cause nerve cells to assembled for a four-day meeting to discuss sicken and die, which has led to the identifica- advances in the ataxias. The meeting detailed tion of targets appropriate for drug treatment, relevant aspects of the normal cerebellum, what most importantly in SCA-1, for which a pilot can go wrong during brain development to cause study trial is now underway at NIH. ataxia, and how aging and brain degeneration can The second day of the AIM focused on refin- also lead to ataxic disorders. A primary focus of ing our understanding of disease mechanisms in the program was to describe how to characterize ataxia, with discussions related to the identifica- ataxias so that meaningful treatments can be tion and testing of treatments. Many Friedreich’s brought to patients as quickly as possible. ataxia investigators detailed various aspects of One of the first day’s highlights was a discus- the exciting treatment trials now underway. The sion of normal cerebellar development – there is program on the final day focused on the ataxia evidence that abnormal development can under- lie some aspects of cerebellar degeneration that Continued on page 23

develop various ataxia publications, including the current and accurate information. Also, in 2007, 48-page quarterly news publication, Generations. NAF expanded its on-line giving efforts and added The Winter 2007-08 issue was expanded to 56 In Honor Of and In Memory Of sections where pages. Generations now has a readership of more donors could write about the person they were than 30,000 worldwide. In addition, the NAF pub- honoring and also include a picture of the person lication “Evaluation and Management of Ataxic honored on NAF’s web site. Disorders, An Overview for Physicians,” written • The National Ataxia Foundation celebrated its by Dr. Susan Perlman, was released in 2007. 50th year in serving ataxia families at the 2007 • In 2007 the Foundation received nearly 10,000 NAF Annual Membership Meeting in Memphis. telephone calls, over 12,000 letters, and more than Elvis even appeared to help in the celebration! The 42,000 e-mails from persons with ataxia, family meeting was hosted by the Mississippi Chapter of members, the medical community, other organi- NAF, which donated $50,000 during the Saturday zations, and the general public. night banquet. • NAF continued in 2007 to attend and partic- These and other program initiatives were made ipate in various conferences including the Ameri- possible because of important support from our can Society of Human Genetics and the Society of generous donors: individuals, corporations, foun- Neuroscience in San Diego, the American Acad- dations, United Ways, families, Combined Federal emy of Neurology Conference in Boston, an NIH Campaigns, chapters/support groups, research conference in Washington, DC, and various and membership drives and others. It is through Abilities Expos, including one in Minneapolis. your gifts that the Foundation is able to continue its • In 2007 NAF continued to update and add important work. Your support truly makes a additional sections on its web site to provide difference. Thank you. O Gen_0801_01-12.qxd:Layout 1 4/22/08 4:28 PM Page 10

Page 10 Generations Spring 2008 Wr ite Yo ur Letter of Intent NOW! Planning For the Financial Future of A Person With A Disability By Arnie Gruetzmacher This is the second part of a five-part series of articles regarding the Life Plan. Arnie has spent the last 27 years working with families of persons with a disability assisting them in preparing a Comprehensive Life Plan. If you have any questions regarding financial/estate planning, please e-mail or address the Editor and Arnie will reply in our next issue or contact you directly.

Life Planning: The Life Plan Intent will be your successors. Address your In the last issue I presented the four compo- Letter of Intent “To Whom it May Concern” nents necessary to develop a Comprehensive followed with basic information regarding the Life Plan to provide a quality of life for your primary caregiver(s) whether they be parents, family member with a disability. Those four spouse or other. This should include name, components are: Life Plan, Legal, Financial and relationship and address. Continue with a Plan Management. In this issue I will explain in history of the person with a disability. detail why the Life Plan component is impor- Next use the sheet of “Concerns for Letter of tant and how to put it together. Intent“ that you developed and for each area list The Life Plan component is a written plan. information regarding the Past, Present and It will provide your successors with all the Future for your family member. Give as much information necessary to assure that all of your detail as possible and be sure to indicate what hopes and desires for your family member with didn’t work so your successors won’t have to a disability will occur even if you are incapaci- reinvent the wheel. Be as specific as possible. tated or are no longer here. This information Remember, the sole purpose of this letter is to should be written in a Letter of Intent. The assist your successors in knowing all there is to Letter of Intent will contain the Life Plan. know regarding your loved one with a disability The Letter of Intent should contain informa- and to make your hopes and desires known. The tion regarding the future in the following areas: more detail you have provided the less stress Residence, Education, Employment, Medical there will be for your successors and the person Care, Behavior Management, Social Activities and Religious Endeavors. To begin, take a with a disability. pad of paper and across the top place the title The Letter of Intent should be dated and “Concerns for Letter of Intent” and under the signed by those person(s) responsible for writ- title list each of the above areas. Then under ing it. Although the Letter of Intent isn’t a legal each area list four to five choices in the order of document, it is meant as a guide to the courts preference. As much as possible, the informa- and your successors as to your hopes and desires. tion in the Letter of Intent should be the result Without the Life Plan as a component of of discussions between the primary care your Comprehensive Life Plan you will create provider and the person with a disability. chaos for your successors and the person with a With these choices made, you now can start disability. Let these people know you care and writing the Letter of Intent. Don’t worry about write your Letter of Intent NOW! sentence structure or correct punctuation In the next issue of Generations, I will be because the only persons reading the Letter of explaining the Legal Component. O Gen_0801_01-12.qxd:Layout 1 4/22/08 4:28 PM Page 11

Spring 2008 Generations Page 11 Ataxia Center Established at Johns Hopkins University

By Carl J.Lauter

It is with great honor and pleasure that the To incorporate innovative technologies into patient Chesapeake Chapter of the National Ataxia care and research. This means that as new tech- Foundation (CC-NAF) announces the estab- nologies and treatments are discovered they can lishment of an Ataxia Center at the Johns be applied to patient care. Also, as patients enter Hopkins University School of Medicine research trials, their findings can be incorporated (JHUMS) in Baltimore, MD. The center will into the general understanding of ataxia dys- not be a physical space, but rather a “new way of functions, which can lead to further methods of doing business.” treatment. Why an Ataxia Center? To coordinate patient care so that comprehensive treatments can be delivered effectively and efficiently. It will be a multidisciplinary center which coor- dinates patient care with a team of physicians, therapists and nurses who will meet prior to each clinic to review each patient. A clinical case manager dedicated to the center will coordinate appointments on the same day, so that patients may, after first being examined by the physician, be immediately directed to additional specialists (such as for eye movement), therapists (such as for speech, swallowing, physical movement), With NAF-Chesapeake Chapter President Carl J. counseling (such as for psychological, genetic), Lauter (seated) are (left-to-right) Vice President or for educational materials or contact with Libby Labash; Patty Dawn; Don Dawn; Justin C. other patients through individual counseling or McArthur MBBS, MPH, Professor and Interim Chairman, Johns Hopkins Department of support groups. Neurology; Sarah Ying, MD, Assistant Professor To promote collaboration among physicians and of Neurology and Ophthalmology; and David Zee, researchers across departments. An Ataxia Center MD, Professor of Neurology, Otolaryngology- Head and Neck, Surgery, Ophthalmology, and research coordinator will be on site to screen and Neuroscience. enroll patients in ongoing research trials if the patient indicates willingness to participate, Why an Ataxia Center at JHUMS? increasing the pace of discovery for new treat- It has been the dream of several of our CC- ments and potential cures for ataxia. NAF members to create such a center at nearby To accelerate research by increasing enrollment of JHUMS for a more efficient mode of visiting patients in clinical trials, and fostering multi- and coordinated treatment. Also, JHUMS and disciplinary relationships among investigators. The the Johns Hopkins Medical Institute (JHMI) are research coordinator will screen and enroll patients in appropriate research studies, Continued on page 12 O Gen_0801_01-12.qxd:Layout 1 4/22/08 4:28 PM Page 12

Page 12 Generations Spring 2008

Ataxia Center the CC-NAF and favored the idea of NAF’s Continued from page 11 research programs. Upon the untimely death of Marilyn with ataxia, later followed by the death known world-wide as one of the most reputable of Gordon, it was realized that the Macklin chil- medical centers. Having an Ataxia Center at dren and Don Dawn, Gordon’s nephew and JHUMS will bring ataxia patients from a wide President of the Gordon and Marilyn Macklin geographical area of the East Coast and world- Foundation, were very sympathetic and favor- wide to be diagnosed and treated by renowned able toward continuing support for NAF’s ataxia neurologists and other neurological specialists. research programs through continued gifting to What will be the role of CC-NAF CC-NAF. During 2007, Libby Labash was in- in relation to the Ataxia Center? strumental in discussing and pursuing a business The CC-NAF has been collaborating with plan with Mr. Dawn which would help to create JHMI for many years in securing speakers for an Ataxia Center. The plan of the Gordon and their meetings and annual Medical Meetings. Marilyn Macklin Foundation is to fund the Many CC-NAF members, in turn, have volun- Ataxia Center with gifts of $150,000 per year for teered their time in participating in research three years. Additional funding may be forth- studies of various investigators at JHUMS and coming when it is observed as to the manner and the adjoining Kennedy-Krieger Research Insti- quality of operations of the Center. The Mack- tute (KKRI). Thus, in collaboration with the lin Foundation will directly fund the NAF with CC-NAF, patients will be referred for additional their donation. Credit will be given to the CC- support services in their community. Individuals NAF for “assistance and support” toward this from the CC-NAF will also be available to meet project. NAF will pass through 100% of the with other individuals and families who have re- specified funding to the Ataxia Center with the cently been diagnosed or who could benefit stipulation that 100% of this gift goes directly to from additional support as the disease progresses. the Center’s operation, with no take-off for In addition, the CC-NAF will be instrumental JHUMS administrative use. The CC-NAF is in helping to support the operation of the Ataxia eternally grateful to the Macklin family for their Center through donations to the CC-NAF past generous support and future commitments specifically designated for the Ataxia Center. toward the goal of helping with the life and com- Development and Operation of the Center fort of the ataxia patient and for the advancement The initial concept of an Ataxia Center was of research. spearheaded about four years ago, prior to June The CC-NAF is also grateful for the NAF’s 2004, when meetings were held in Catonsville, Board of Directors approval earlier in the year of MD, by two neurologists at JHU, Sarah Ying, this concept and project and the Johns Hopkins MD and Elizabeth O’Hearn, MD, in conjunc- University and Neurology Department admin- tion with members of the CC-NAF Board istrative staff for their collaborative work with (A-Team), Libby Labash, Vice President; Carole the Macklin Family to negotiate a viable contract Connor, Membership Chair and Treasurer; Bill between all parties concerned. Lee, Secretary; and Carl Lauter, President. Once funded, the Ataxia Center should be Discussions were pursued as to the need for such operational in early 2008. A contact address and a Center, the operation of it, and the source of phone number will be provided upon establish- funding. As the years passed, it was noted ment of the Ataxia Center. Come and visit the that one of CC-NAF’s families, Marilyn and center, tell your friends, and make a contribu- Gordon Macklin, were generous benefactors to tion! The doctors are ready and waiting! O Gen_0801_13-24.qxd:Layout 1 4/23/08 9:03 AM Page 13

Spring 2008 Generations Page 13 Ride Ataxia II ReachesVegas Kyle Bryant and 15 other cyclists were $100,000 Kyle Bryant Translational Research welcomed by more than 100 well wishers as they Award was made to Australian researchers and to arrived on Thursday, March 27 at the Flamingo their British collaborators. Hotel in Las Vegas, NV to help kick off the 2008 At the 2008 Annual Membership Meeting’s National Ataxia Foundation’s 51st Annual Friday night reception, Kyle gave an extraordi- Membership Meeting. This is the second year nary PowerPoint presentation on the Ride Ataxia Kyle and others have left from California to II team’s incredible and heroic journey. After finish their journey at the NAF annual mem- the presentation, Arnie Gruetzmacher presented bership meeting. a medal to each rider from Ride Ataxia II to Kyle, who has been diagnosed with Fried- commemorate their incredible journey. reich’s ataxia, and others began the first Ride The National Ataxia Foundation applauds the Ataxia in 2007, beginning in La Jolla, CA and efforts of Kyle and the other riders and sponsors ending in Memphis, TN, the site of the NAF for making Ride Ataxia II so successful. This 50th Annual Membership Meeting. The 2,400- year’s bike ride continued to raise the level of mile bike trip helped raise ataxia awareness and ataxia awareness and raised more than $110,000 raised $40,000 to support promising Friedreich’s to support vital Friedreich’s ataxia research. ataxia research. NAF, FARA, and Ride Ataxia II will be teaming Through funding support from Ride Ataxia I up again this year in support of the 2008 Kyle and joint funding from NAF and FARA, a Bryant Research Award. O

The Ride Ataxia II team celebrates after arriving in Las Vegas. Thank You Athena! Athena Diagnostics is a reference laboratory to the NAF Ataxia Investigators Meetings dedicated to the development of diagnostic (AIM). Athena again this year has made a fund- testing for neurological disorders, including the ing commitment to support the 2008 Ataxia ataxias. Athena is a leading provider of advanced Investigators Meeting. neurological diagnostic assays, which are per- The National Ataxia Foundation is truly grateful formed in their lab in Worcester, MA. to Athena Diagnostics’ continued partnership Over the years, Athena Diagnostics has with the Foundation in serving ataxia families. continued to contribute to the National Ataxia Thank you Athena! Foundation’s annual membership meetings and Gen_0801_13-24.qxd:Layout 1 4/23/08 9:03 AM Page 14

Page 14 Generations Spring 2008 NAF Research Grant Summaries The following grants were funded by the National Ataxia Foundation in December 2007 for fiscal year 2008. to plan further clinical trials. Sergio Cocozza, MD University of Naples, Naples, Italy Cláudio M. Gomes, PhD Role of rhu-EPO and HDAC inhibitors Instituto Tecnologia Química e Biológica., alone and/or in combination on the Universidade Nova de Lisboa, Portugal regulation of frataxin expression: Frataxin folding, chaperone role and New prospective for FRDA treatment interactions with iron-sulfur biosynthesis proteins: contributions to Friedreich’s ataxia is the consequence of understand Friedreich’s ataxia frataxin deficiency. The relevance of the frataxin protein has been assessed in cellular models by The neurodegenerative disease Friedreich’s showing that the phenotype can be completely ataxia (FRDA) is the most common of heredi- reverted by the complementation of the protein. tary ataxias with an estimated prevalence of one Unfortunately substitutive treatments, as gene in 50,000 individuals. This pathology results from therapy approaches, seem to be far away to be a reduction in frataxin levels, a small protein readily accessible within the near future. Under localized in the cellular organelle (mitochon- this point of view, drugs able to increase the drion). Frataxin function is not yet fully frataxin amount are excellent candidates for a understood but previous data shows a role in the rationale approach to the FRDA therapy. But, up formation of iron-sulfur clusters, the inorganic to now, although several drugs have been cofactors that will be incorporated into many proposed, there still is no treatment available. It different proteins and are essential for life. A more was recently demonstrated that both erythropoi- precise understanding of the biological function etin and HDAC inhibitors can increase the intra- of frataxin is necessary in order to better under- cellular levels of frataxin in in-vitro models. stand how FRDA is developed. The present HDAC inhibitors seem to increase the mRNA project focuses on the study of the interaction be- transcription while erythropoietin seems to in- tween frataxin and other proteins involved in the crease only the protein amount. The mechanism biosynthesis of iron-sulfur clusters, using genetic, by which erythropoietin acts in enhancing biochemical and biophysical methodologies. frataxin protein amount is not yet elucidated. The relevance of the erythropoietin as potential drug Michael D. Hebert, PhD for Friedreich’s ataxia is based mainly on its avail- The University of Mississippi Medical ability as a commercialized drug. Therefore it Center, Jackson, MS could be tested in patients without undergoing the long pharmaceutical and first phase clinical Disrupted pre-mRNA splicing in trials. The present project is aimed to test the pos- Machado-Joseph disease sible synergy between erythropoietin and a selected HDAC inhibitor, the 4B-BML-210-der. The cell nucleus is highly organized and We will perform tests in cellular models, contains distinct domains, territories and bodies. to assess their efficacy alone and in combination, Many of these structures participate in the in order to find the best effective dose and efficient production and processing of RNA. administration timing. The results will be useful Disruptions in this process will impede the Gen_0801_13-24.qxd:Layout 1 4/23/08 9:03 AM Page 15

Spring 2008 Generations Page 15

flow of information from DNA to RNA to proof electrical activity in every cell particular in the tein and lead to cell death. Several neurodegen- central nervous system. Most affected individuals erative disorders, such as Huntington’s disease, respond favorably to treatment with acetazo- spinocerebellar ataxia-type 1 and Machado- lamide, a carbonic anhydrase inhibitor, that Joseph disease (MJD), are characterized by mu- reduces the frequency of attacks. The basis for tant proteins that generate large nuclear benefit provided by acetazolamide is not under- inclusions in neuronal cells. While these inclu- stood and one goal of this application is to provide sions could be pathogenic, beneficial or inciden- an understanding of the cellular mechanism by tal, it is clear that various nuclear domains which acetazolamide works, as well as provide an differentially associate with specific types of in- animal model to test other potential treatments. clusions. In particular, one nuclear domain The classic neurological concept that the cere- known as the Cajal body has been shown to as- bellum is a site of motor control originates from sociate with inclusions in MJD patient cells. The clinical observations that patients with cerebellar mutated protein in MJD is ataxin-3. Since the damage often exhibit motor-related symptoms of Cajal body plays a role in making the machinery gait ataxia, dysmetria, hypotonia, and tremor. needed to properly process RNA, it is suspected The Kv1.1 gene is expressed in interneurons of that Cajal body function may be impaired in cerebellum that release the neurotransmitter MJD. Preliminary data support this suspicion. In GABA, the major inhibitory transmitter in the this application, we will examine if Cajal body ac- brain, but not in Purkinje cells, the primary cells tivity is altered in neuronal-like cell lines that can that project information out from the cerebellum. express normal and mutant forms of ataxin-3. By It is therefore likely that EA1 symptoms results fully understanding the mechanisms by which from altered GABA release. To understand the neuronal cells die in certain neurodegenerative cellular and behavioral mechanisms that result in disorders, advances can be made in the develop- EA1, we have constructed a transgenic mouse ment of treatments. model for EA1. We will use the EA1 mouse model for behavioral, electrophysiological, and James Maylie, PhD calcium imaging investigations. These experi- Oregon Health & Science University, ments will comprise an exemplary use of a diverse Portland, OR technical repertoire and integrated approaches to understand an inherited human disorder in an ion Molecular and Cellular Physiology channel gene. The EA1 mice may also suggest of Episodic Ataxia Type 1, EA1 and also serve for testing future therapeutic approaches. Episodic ataxia type 1 (EA1) is an autosomal dominant neurological disorder in which affected Puneet Opal, MD, PhD individuals experience attacks of imbalance and Northwestern University, Chicago, IL uncontrolled movements, often associated with jerking or tremor of the head and arms and asyn- Dissecting transcriptional misregula- chronous twitching of muscle fibers within the tion in SCA1 using laser capture mi- facial and hand muscles. Genetic linkage studies croscopy and transcriptional profiling and DNA sequence analysis have identified mutations in KCNA1, the gene encoding the Spinocerebellar ataxia type 1 (SCA1) is an in- voltage-gated potassium channel, Kv1.1, as herited disease that causes progressive instability underlying EA1. Potassium channels are important contributors to the geneses and modulation Continued on page 16 Gen_0801_13-24.qxd:Layout 1 4/23/08 9:03 AM Page 16

Page 16 Generations Spring 2008

NAF Research Grant Summaries cerebellar ataxia, which is now classified as Continued from page 15 SCA27. One major difference between the existing mouse model and the human disease is that of gait or ataxia. Unfortunately, there is no the knockout mice completely lack a functional treatment for this relentless disease and those FGF14 gene, whereas affected humans have one afflicted succumb to complications of cerebellar normal copy of the FGF14 gene and one mutant and brainstem dysfunction. This disease is caused copy. Thus, although the existing mouse model by an expansion of glutamines (glutamine is an and human disease phenotypes resemble each amino acid) in the disease causing protein, ataxin- other, the underlying molecular mechanism that 1. A major shortcoming in our understanding of causes the disease in knockout mice and humans SCA1 has been the lack of characterization of must be different. The Ornitz laboratory, with pathologic changes in Purkinje cells – the cell expertise in making and studying mouse models, type most afflicted in this disease. To address this is collaborating with the Nerbonne laboratory, issue we will use laser capture microscopy with expertise in neurophysiology, to understand (LCM), a method designed to purify specific cell the role of FGF14 in regulating the activity populations from tissue samples from pre- (excitability) of neurons and why, in the absence symptomatic SCA1 knockin mice. LCM will of FGF14, mice develop an ataxia syndrome. A then be combined with gene-expression profiling key question that we will answer is how a single to characterize the earliest transcriptional alter- mutation in one copy of human FGF14 results in ations in SCA1. Apart from providing significant a disease similar to that found in mice that are insight into SCA1 pathogenesis, we foresee that missing both copies of their FGF14 genes. To these experiments will lead to targeted therapies fully understand the human SCA27 disease that might reverse the transcriptional alterations mechanism and to be able to test possible inter- seen in this disease. ventional strategies, we will construct a mouse David M. Ornitz, MD, PhD model with a mutation that is identical to the human SCA27 mutation. We will also generate Washington University School of Medicine, and test antibodies that will allow us to detect the St. Louis, MO normal and mutant FGF14 protein in mice and Biological tools to investigate humans. With the availability of these essential Spinocerebellar Ataxia 27 (SCA27) tools, we will be in an excellent position to apply for NIH funding so that we can expand our re- Intracellular Fibroblast Growth Factors (iFGFs) search program and investigate detailed molecu- are important regulators of the activity of many lar mechanisms and therapeutic interventional different neurons in the brain and throughout the strategies that could benefit patients with SCA27 body. FGF14 is one of four iFGF genes. When and potentially patients with other forms of ataxia the Ornitz laboratory completely inactivated the and other movement disorders. FGF14 gene in mice (FGF14 knockout mouse), the mice developed an ataxia syndrome in which Henry Paulson, MD, PhD they were uncoordinated, showed spontaneous University of Michigan, Ann Arbor, MI abnormal movements (called paroxysmal dysto- nia) and occasionally had a tremor. The published RNAi as therapy for spinocerebellar phenotype of the FGF14 knockout mouse ataxia type 3 (SCA3) directly led to the discovery of a mutation in the FGF14 gene in a large human family in which Spinocerebellar ataxia type 3 is a dominantly affected individuals have a progressive spino- inherited form of ataxia for which currently Gen_0801_13-24.qxd:Layout 1 4/23/08 9:03 AM Page 17

Spring 2008 Generations Page 17

there is no cure. Because the disorder is caused the presence of cytoplasmic vacuoles in Purkinje by a “toxic” disease protein, turning off produc- cells. In SCA1 mice, these vacuoles start appear- tion of the disease protein is a promising route to ing early on before the onset of ataxia. It is not therapy. We propose to exploit the power of understood why vacuoles are formed, however, RNA interference (RNAi) to silence the disease they may have a role in Purkinje cell pathology. gene (ATXN3) in a mouse model of SCA3. The Our recent data show that the process of vacuo- mouse model we have chosen expresses the full lar formation is associated with degenerative human ATXN3 gene with its normal promoter, changes in Purkinje cells. In addition, these making it as close to the human situation as we vacuoles contain neighboring Bergmann glial can get at this time. We and others have already specific proteins and are present both in trans- proven that RNAi can suppress the expression of genic mice and human patients with SCA1. disease-causing genes, as in SCA3. Our goal here Bergmann glial cells locate their cell bodies is to take advantage of our lab’s expertise in around Purkinje cells, and help Purkinje cell RNAi and in SCA3, our demonstrated commit- processes to grow and develop. We believe that ment to this disease, and our experience with this early and continuous expression of mutant mouse model to carry out necessary preclinical ataxin-1 in Purkinje cells compromises normal studies that are desperately needed if RNAi is signal transduction mechanisms by impairing ever to be brought to the clinic for patients with Purkinje cell Bergmann glial crosstalk. This leads SCA3. Our studies will create two different to vacuole formation and Purkinje cell death in RNAi reagents targeting different regions in the SCA1. Therefore, to understand both the role of disease gene; both will be expressed via engi- Bergmann glia in SCA1 pathogenesis and the neered viruses that can efficiently be delivered to functional relevance of the presence of glial- the brain and result in sustained “knock-down” derived vacuoles, we will study developmental of the targeted disease gene. If the studies are suc- changes in different kinds of transgenic and cessful, we will be well-positioned to go forward wild-type mice. Using cell culture, it will be with second phase preclinical studies which are assessed if an interaction between Bergmann glia longer term and beyond the scope of the current and Purkinje cells is required for vacuole forma- one year proposal. Completion of the currently tion. Purkinje and Bergmann glial cell cultures proposed studies will allow us to compete suc- will be prepared from zero to one day old mouse cessfully for federal funding to continue the work pups. To determine if glial protein S100B targets and, we hope eventually, bring RNAi to the are affected in SCA1 Purkinje cells, S100B SCA3 clinic. inhibitor will be intranasally administered to SCA1 mice to see if this treatment suppresses Parminder J. S. Vig, PhD vacuole formation and SCA1 pathology. The University of Mississippi Medical Center, significance of the present study is that an early Jackson, MS identification of abnormal communication pathways between Bergmann glia and Purkinje Role of Bergmann glia in Purkinje cell cells could be targets of potential therapies for development and pathology in SCA1 pre-symptomatic patients with SCA1. The long- term objective of this project is to understand Spinocerebellar ataxia 1 (SCA1) is a dominantly neuron-glial relationship in neuronal degenera- inherited disease caused by the abnormal function in order to design therapeutic approaches in tions of ataxin-1 protein. SCA1 is associated with clinical management of SCA1 or other cerebellar progressive ataxia resulting from the loss of ataxias. cerebellar Purkinje cells and neurons in the brainstem. A prominent feature of SCA1 pathology is Continued on page 18 Gen_0801_13-24.qxd:Layout 1 4/23/08 9:03 AM Page 18

Page 18 Generations Spring 2008

NAF Research Grant Summaries will optimize RNAi sequences as potential ther- Continued from page 17 apeutics for Friedreich’s ataxia. We will partner with one or more of the companies involved in Robert Wilson, MD, PhD RNAi therapeutics to bring the best sequences University of Pennsylvania School into clinical development. Although this proposal of Medicine, Philadelphia, PA focuses on Friedreich’s ataxia, the experiments will serve as a proof-of-principal for a similar RNAi therapeutics for Fiedreich’s ataxia approach to identifying RNAi therapeutics for the dominant ataxias. Current therapeutic initiatives for Friedreich’s ataxia comprise the screening and/or testing of Research Fellowship Awards conventional chemical compounds – to increase Qurashi, Abrar, PhD the expression of frataxin, to mitigate or reverse the deleterious effects of decreased frataxin Emory University, Atlanta, GA expression on cellular energy production, or to Understanding the molecular basis of reverse the subcellular iron accumulation that rCGG mediated neurodegeneration in apparently contributes to the signs and symptoms Drosophila melanogaster of the disorder. The purpose of the experiments described in this proposal is to identify therapeu- Fragile X tremor ataxia syndrome (FXTAS) tics for Friedreich’s ataxia using an alternative, is a neurological disorder that causes tremors, and completely novel, approach. This approach balance problems, difficulty in walking, demen- is a selection screen for therapeutics based on tia and mental changes in males usually after age what is called RNA interference (RNAi). RNAi of 50. The underlying defect for this neuro- is a recently discovered mechanism by which cells logical disorder is the gene FMR1 responsible for regulate gene expression, and which can be fragile X syndrome, the most common inherited exploited for therapeutic purposes. Although cause of mental retardation. In FXTAS, unlike delivery issues for RNAi therapeutics are still fragile X syndrome, FMR1 gene produces a toxic being worked out (i.e., how to get RNAi messenger RNA because of the abnormally high constructs into particular cell types), several numbers of the repeating DNA sequences (55- companies are already involved in clinical trials 200 CGG units) called premutation. Modeling of RNAi therapeutics, including Acuity (age- the FXTAS disease in Drosophila has shown that related macular degeneration, diabetic retino- a particular group of RNA binding proteins in pathy), Alnylam (respiratory syncytial virus), and the brain are sequestered by these toxic messen- Sirna (age-related macular degeneration, hepati- ger RNAs, thereby preventing them to perform tis C). For this proposal, we will put several their normal function. Among the sequestered hundred thousand separate RNAi sequences into proteins is Purα that is particular because loss of several hundred thousand cells (in a tissue culture Purα in mice produces FXTAS like symptoms, flask) from an individual with Friedreich’s ataxia. suggesting an important role for Purα in the dis- We will then select cells that thrive under ease mechanism of FXTAS. This project proposal conditions normally deleterious to Friedreich’s is aimed to understand the cellular and molecu- ataxia cells and retrieve the RNAi sequences that lar pathways affected due to sequestration of Purα allow the cells to thrive. (In effect, we let the cells in the brain because of toxic messenger RNA. tell us which sequences work best.) Through an This proposal is also aimed to utilize Drosophila iterative process of varying the most beneficial FXTAS model for screening FDA approved sequences, re-screening the variants in cells, and small molecule libraries for potential therapeutic retrieving those that are even more beneficial, we intervention for future use in humans. Gen_0801_13-24.qxd:Layout 1 4/23/08 9:03 AM Page 19

Spring 2008 Generations Page 19

tation in the ataxin-2 gene. The disease is caused Riccomagno, Martin M., PhD by a progressive loss of cells in a region of the The Johns Hopkins School of Medicine, brain that controls balance and motor function. Baltimore, MD Patients have a decrease in fine movement coor- P130Cas in granule cell migration: dination, speech problems and uncontrolled eye understanding the mechanisms movements resulting in an escalating impairment underlying cell migration in of daily living during the course of the disease. cerebellar development Although the disease gene was identified 10 years ago, the precise mechanisms leading to neuronal Non-progressive congenital ataxias represent a dysfunction and nerve cell death have remained genetically heterogeneous group of neurological elusive. Several years ago, we discovered a disorders. Several of these ataxias are caused by protein that binds to atxn2 designated A2BP1 or defects of the cerebellum, a region of the brain in fox-1. Recently, the function of this protein has charge of balance and coordination of motor been unravelled pointing to a role in processing of functions. Some of these defects may be caused messenger RNA and potentially in guiding and by an embryonic developmental deficit. A key stabilizing messenger RNA in specific compart- ments of the cell. Based on our discovery of step during cerebellar development is the inward interaction of A2BP1 and atxn2, we are now migration of a certain type of neuron, the granule proposing to examine the effects of mutant atxn2 cells, from the external granule cell layer (EGL) on the processing of messenger RNAs. We to the internal granule cell layer (IGL). This hypothesize that mutant atxn2 prevents A2BP1 migration is tightly regulated by signaling cues from its proper function in the nucleus of the cell. that are known to attract and repel cells and axons. We will examine this hypothesis by interaction Previous data suggests that a cytoplasmic protein, studies of normal and mutant atxn2 with A2BP1. p130Cas, may be required for some of these We will then determine whether mutant atxn2 signaling cues to be able to instruct cerebellar cells will cause faulty processing of messenger RNAs. to move. However, little is known about Cas These studies may have general implications for protein function in neuronal migration and cere- understanding the role of mRNA processing in bellar development. The objective of this proposal neurodegeneration, but will also open the door is to define and characterize the function of for designing specific therapies for SCA2. vertebrate Cas proteins in granule cell migration and axon guidance. To achieve this objective Wright, Jane, PhD we will take different approaches, including the Friedrich Miescher Institute, Basel, generation of a mouse deficient for p130Cas, Switzerland which may serve as a model for developmentally caused ataxias. Elucidating the mechanism of ATX-2: the C.elegans ortholog of Strauss, Karsten, PhD a protein implicated in human neuro- University of Utah, Salt Lake City, Utah degenerative disease.

SCA 2 Pathogenesis: Altered splicing Mutations in the human gene SCA2, which caused by gain of normal ataxin-2 encodes the ataxin-2 protein, can give rise to function the neurodegenerative disorders spinocerebellar ataxia type 2 and are also associated with Parkin- Spinocerebellar ataxia 2 (SCA2) is an inherited neurological movement disorder caused by mu- Continued on page 20 Gen_0801_13-24.qxd:Layout 1 4/23/08 9:03 AM Page 20

Page 20 Generations Spring 2008

NAF Research Grant Summaries ized by the aggregation and accumulation of Continued from page 19 misfolded proteins. By interacting with essential cellular components, mutated proteins can entrap son’s disease. The typical biological function of these elements into aggregates, thus contributing the ataxin 2 protein is currently unknown. Our to the cascade of neurotoxic events which finally aim is to uncover this normal function of ataxin- leads to neuronal death. A protective role for 2 in the hope that it will increase our under- molecular chaperones, including Hsps and HspB, standing of what may go awry when ataxin-2 is against mutated protein toxicity has been exten- mutated. In order for a gene to be expressed, the sively demonstrated. In the presence of mutated DNA of a gene is first transcribed into mRNA and instable proteins, which are more prone to molecules. This mRNA can then serve as a aggregate, molecular chaperones avoid their template for the synthesis of proteins. Ataxin-2 accumulation and/or target them for degradation. has been suggested from previous studies (work Recently, a major role for the autophagy has been of several labs including our own) to regulate the recently proposed in the degradation of mutated expression of mRNA molecules. It is possible polyglutamine proteins, including mutated that mutations in ataxin-2 may cause neuro- ataxin-3, but little evidence exists demonstrating degeneration by interfering with the normal reg- a role for molecular chaperones in modulating the ulation of particular mRNAs. We are studying autophagy-mediated degradation of misfolded the ataxin-2 protein in the round-worm, C. proteins. We previously reported that HspB8, elegans (homolog, atx-2) to understand precisely member of the HspB family (HspB1-HspB10), how ataxin-2 usually regulates mRNA expres- blocked mutated polyglutamine proteins (hunt- sion. The main advantage of studying atx-2 in C. ingtin, androgen receptor and ataxin-3) aggrega- elegans is that it is the only model where we tion. We recently found that HspB8 forms a already have examples of specific mRNAs whose stable complex with Bag3. Overexpression of the expression is regulated by ATX-2. Also the HspB8/Bag3 chaperone complex inhibited the ataxin-2 protein shows a high degree of evolu- aggregation of mutated huntingtin and, most im- tionary conservation making it entirely feasible to portantly, stimulated its degradation through the study in a model organism such as C.elegans. autophagy pathway. In parallel, we observed that Future SCA2 therapies will likely be aimed at Bag3 can function in the absence of HspB8, thus modulating the function of the ataxin-2 protein. strongly suggesting that it may cooperate with Understanding the normal function of ataxin-2 other members of the HspB family. We will iden- will greatly aid this process. tify the chaperone complexes that facilitate the Young Investigator Award autophagy-mediated clearance of mutated ataxin- 3 and we will analyze their expression levels in Serena Carra, PhD tissues and cell cultures from patients affected by University Medical Center Groningen, the Machado-Joseph disease. This will allow us The Netherlands to focus our future studies on the HspB proteins whose profile is altered in the disease. The selec- Role of small heat shock proteins tive upregulation of the HspB complexes able (HspB) in the prevention of mutant to facilitate mutated ataxin-3 degradation by ataxin-3 aggregation and toxicity. autophagy may have relevant therapeutic implications. In fact, mutations in several HspB Many of the most common neurodegenerative cause neurodegeneration, suggesting that they disorders including polyglutamine diseases, such may have important neuroprotective functions. as SCA-3/Machado-Joseph disease are character- Moreover, accumulation of mutated ataxin-3 Gen_0801_13-24.qxd:Layout 1 4/23/08 9:03 AM Page 21

Spring 2008 Generations Page 21

within the nucleus is required for the manifesta- and control subjects. Insufficient insulin production of the symptoms, supporting the hypothesis tion by the cells and insulin resistance will be cor- that facilitating its autophagy-mediated degrada- related with glucose tolerance and with the tion may contribute to slow down the disease frataxin gene expansion size. We present prelim- progression. inary data showing that, while the Friedreich’s ataxia patients in our pilot study are young and Miriam Cnop, MD, PhD lean, they have a high prevalence of impaired Universite Libre De Bruxelles, glucose tolerance and diabetes. They are insulin Brussels, Belgium resistant but do not increase insulin secretion, suggesting that their pancreatic cells fail to Pathogenesis of impaired glucose compensate for the increased demand. We expect tolerance and diabetes in Friedreich’s that this failure underlies progression to diabetes. ataxia: contribution of insulin Based on the understanding of the cause of resistance and pancreatic beta cell dysfunction diabetes in Friedreich’s ataxia, optimal diabetes treatment choices will be defined, and novel approaches to prevent the disorder envisaged. Friedreich’s ataxia is caused by mutations in the This study will form the basis of subsequent stud- frataxin gene. The vast majority of patients have ies to characterize the function of frataxin in cells large expansions in both copies of the frataxin and/or insulin responsive tissues using animal gene, and the size of this expansion correlates models. with age at onset and the severity of neurological symptoms. In addition to the neurological prob- Friedreich’s Ataxia lems, patients with Friedreich’s ataxia are at risk Special Projects Award of getting increased blood sugar levels, or glucose intolerance, and around 20% progress to overt Brigitte Sturm, PhD diabetes. The cause of diabetes in Friedreich’s Medical University of Vienna, Austria ataxia is poorly understood. Glucose intolerance and diabetes can result from a shortage in insulin The role of frataxin in heme synthesis secretion by the insulin-producing cells in the pancreas, from a poor response to insulin in Friedreich’s ataxia (FRDA) is a severe genetic muscle, liver and fat tissues (insulin resistance), or disorder affecting approximately one in 50,000 from a combination of both. Previous and con- people. The most common FRDA symptoms tradictory studies addressing the cause of diabetes include muscle weakness and loss of coordina- in Friedreich’s ataxia often used inaccurate tion, vision impairment, hearing loss, heart methods to measure insulin secretion and sensi- muscle abnormalities, scoliosis, and diabetes. The tivity. They were conducted before the frataxin underlying cause of FRDA is a mutation in the gene mutation was discovered, and before key FRDA gene which results in reduced levels of concepts for the understanding of glucose toler- an essential protein named frataxin in all cells of ance were developed. The aim of the present the body. The function of frataxin is still unclear project is to elucidate why patients with Fried- but there is some evidence that frataxin plays a reich’s ataxia develop diabetes. Specifically, we role in heme synthesis (the production of will examine the relative role of pancreatic cell hemoglobin which consists of heme and globin failure and insulin resistance in diabetes develop- proteins and is essential for oxygen transport in ment. This will be done using state-of-the-art the body). In this study we will investigate the oral and intravenous glucose tolerance tests in Friedreich’s ataxia patients, first degree relatives Continued on page 22 Gen_0801_13-24.qxd:Layout 1 4/23/08 9:03 AM Page 22

Page 22 Generations Spring 2008

NAF Research Grant Summaries undifferentiated cells and share many common Continued from page 21 features with stem cells. Progenitor cells have a capacity for self-renewal and differentiation and role of frataxin in heme synthesis. For this study can switch during the differentiation process into we will use cells from a FRDA humanized mouse red blood cells. During differentiation high levels model which contains the entire human gene of heme are synthesized. Therefore it will provide frataxin instead of the mouse gene for frataxin. us a very good tool to study a possible influence These mice manifest the main symptoms of of frataxin on hemesynthesis under conditions FRDA as found in patients. We will collect which mimic the situation in the body. Using an progenitor cells from these mice and from blood optimal model for studying heme synthesis this from FRDA patients and will turn them into project will enable us to characterise the role of red blood cells under laboratory-controlled frataxin during heme synthesis. O conditions. Progenitor cells refer to immature or My Life So Far:

50By Brenda Yea Dixon rs of Friedreich’s Ataxia I was born in Montreal, Quebec in 1957, the awhile, but over the years my scoliosis has slowly eldest of three children. When I was nine, my returned. parents noticed that I was having difficulty going When I was 11 years old my father was down stairs and was sometimes losing my transferred to Richmond, British Columbia. My balance. I was seen by a neurolo- degenerative progression was gist and, after a stay in the slow, so I was still walking. As I Montreal Neurological Hospital, went through my teen years I I was clinically diagnosed with would have an unsteady walk and Friedreich’s ataxia at age 10. be taunted and accused of being I am not affected with diabetes drunk. Once when I was outside and so far, not cardiomyopathy. with friends, someone called the Friedreich’s ataxia affects every- police thinking I was drunk. one differently. Some people I graduated from high school progress faster than others and and began working at a financial some progress quite slowly. So institution in Richmond, where far my major physical changes I worked for 28 years. I did a have been skeletal. My speech variety of banking duties and is not badly affected unless I’m worked as a programmer for the tired. I had scoliosis surgery in Brenda Dixon last 10 years. My peers watched 1988. Rather than Harrington me progress from a walker to a Rods, a new type of rod called C-Rods, where scooter to a wheelchair. In 2004, I was let go and the rods are in sections, were inserted. The bot- put on long-term disability. toms of the rods were attached to the back of my In 1996, a few of us with various types of pelvis but in 1991 they broke away so I had to ataxia including hereditary ataxia founded the have them removed. My spine was straight for BC Ataxia Society, a non-profit registered Gen_0801_13-24.qxd:Layout 1 4/23/08 9:03 AM Page 23

Spring 2008 Generations Page 23

Second International AIM provided by the National Institute of Neuro- Continued from page 9 logical Disorders and Stroke, the Friedreich’s Ataxia Research Alliance, the Friedreich’s Ataxia clinical research networks that are coalescing in Research Association of Australasia, the Ataxia North America and Europe and expanding their Telangiectasia Children’s Project, the Muscular reach to include Australia, South America and Dystrophy Association, the Gordon and Marilyn Asian countries. Cooperative efforts were organ- Macklin Foundation, the Chesapeake Chapter of ized to define useful patient registries and reliable the NAF, Athena Diagnostics, ApoPharma, and measures for ataxia severity that will be essential in Santhera Pharmaceuticals. Clearly, to attract this testing the new treatments being developed. much international participation in the meeting An exciting aspect of the AIM was the involve- and to garner support from this many disease ment of clinical and basic science investigators foundations, ataxia investigation is accelerating in from many countries, including Australia, Bel- a comprehensive and worldwide approach. gium, Brazil, Canada, China, England, Finland, One final important aspect of the 2008 AIM is France, Germany, Italy, Japan, and the U.S. As that it included more than 40 young investigators, ataxia research matures, a worldwide collabora- recruitment of whom is essential so that we can tive effort is essential so that meaningful treat- achieve a long-term goal of the NAF – to ments can be tested and delivered to affected successfully control ataxia. Members of the NAF individuals in all countries as rapidly as possible. can take pride in what their organization accom- Furthermore, although the AIM program was plished in the meeting, and can be justifiably principally organized and supported by NAF, optimistic about the cutting edge science that was important financial and program support was also on display for four days in Las Vegas. O

charitable society. I have held almost all of the In 1997, I attended my first annual meeting. leadership positions on the board of the BC My first encounter with an attendee of the NAF Ataxia Society and in September of 2006, I was meeting was with NAF Board Member Earl elected as their president. McLaughlin, whom I met on the plane. He said I live alone in a condo with my cat, Oliver. I to me, “After going to this conference you will have home care and a cleaning lady come twice a want to come back every year.” And he was right. month. Everyday physical tasks are becoming I have attended every meeting since. As I tell more and more difficult for me. people, “Many people attending the meeting I have pes cavus, the foot deformity, which is have some form of ataxia or have a family caused by a short Achilles tendon; my inner calf member with ataxia, so no one stares at you or muscle pulls my ankle inwards. I am going to judges you.” have tendon transfer surgery to fix this in order to The BC Ataxia Society has been chosen to make my transfers easier. My brothers live in co-host the 2009 meeting in Seattle with the Alberta and my father lives in Richmond. He is Seattle Area Support Group. This will be the first elderly and finds it hard to do much. I do what I time an annual meeting will be hosted with an am physically able to do for him. international ataxia support group. I am very I have traveled all over the states since 1997. excited about this and feel honored that BC Every year, the National Ataxia Foundation has Ataxia Society has been chosen as the first inter- an annual membership meeting in a different national support group to co-host a NAF annual geographic location in the States. It is very membership meeting. informative with prominent researchers giving the latest updates on ataxia research. I love going (Please see the 2009 NAF Annual Membership to these meetings. Meeting Invitation on page 27.) O Gen_0801_13-24.qxd:Layout 1 4/23/08 9:03 AM Page 24

Page 24 Generations Spring 2008

National Ataxia Foundation 51st Annual Membership Meeting Review “Blazing a Trail in Research” The Flamingo Las Vegas Hotel — March 28-30, 2008

The National Ataxia Foundation’s 2008 answered from ataxia investigators, and share Annual Membership Meeting was hosted by the experiences with others through the popular Arizona Ataxia Support Group and held in Las “Birds of a Feather” sessions. Vegas, NV. Many thanks to the Arizona Support Friday evening the Arizona Support Group Group for all their efforts and congratulations on hosted a western-themed hors d’ oeuvres recep- a highly successful Annual Membership Meet- tion that was well-attended. Delicious food ing. Over 600 people attended the 51st meeting and great company was enjoyed by all. At the from around the world. Thirty-nine U.S. states reception, Dianne Blain Williamson, Northern were represented, along with attendees from Alabama and Southern Tennessee NAF Ambas- Australia, France, United Kingdom, Germany, sador was recognized for her long-time support Switzerland, and Canada. of NAF and her efforts to raise ataxia awareness Thursday, March 27, was the arrival date of in her area. The Coffey Family was recognized the riders of Ride Ataxia II. Over 100 people for their long-time efforts in raising funds for gathered to welcome the riders! Congratulations important ataxia research programs. Kyle Bryant, to Kyle Bryant, founder of Ride Ataxia and all founder of Ride Ataxia accepted a plaque dedi- the other participants of Ride Ataxia II for cated to Ride Ataxia II. Kyle gave a presentation their courageous efforts. We thank all those that on the highlights of this year’s ride experience. supported Ride Ataxia II to raise ataxia awareness All the riders of Ride Ataxia II were recognized and funds for important ataxia research. with a medal for their participation in the bike Friday morning started with the breakout ride, which started in Sacramento and ended in sessions, which provided several resourceful top- Las Vegas at the membership meeting. Ride ics including Speech and Swallowing, Genetics Ataxia II raised over $120,000 for ataxia research and Genetic Testing, Dancing with Ataxia, that will go towards a Friedreich’s ataxia research Financial Planning, Selecting a Patient Care grant in Kyle Bryant’s honor. NAF and FARA Attendant, Social Security and Medicare, Patient will again partner this year to add funds to in- Care Techniques for Caregivers, Emotional crease the amount for this important research Impact of Ataxia, Adaptive Sports, and Living award. with Ataxia. These topics were presented by Saturday started the General Session program individuals with either personal or professional with many new and familiar medical profession- experience. We thank all the presenters for their als and researchers. Huda Zoghbi, MD (Baylor participation. University) started out the General Sessions by Friday afternoon attendees were given the discussing the translational studies being done in opportunity to meet others with the same type spinocerebellar ataxia. Christopher Gomez, MD, of ataxia in smaller groups, get personal questions PhD (University of Chicago) talked about Gen_0801_25-36.qxd:Layout 1 4/22/08 10:57 AM Page 25

Spring 2008 Generations Page 25

Biomarkers in ataxia. Helene Puccio, MD, PhD trials. Arnulf Koeppen, MD (Virginia Medical (INSERM) reported on what we can learn from Center, Albany, NY) then presented information Animal Models to further Friedreich’s ataxia on brain tissue repair in hereditary ataxia research. Laura Ranum, PhD (University of followed by Broyna Keats, PhD (Louisiana State Minnesota) presented a general overview of University Health Sciences Center) who dis- ataxia followed by George Wilmot, MD, PhD cussed RNAi Research. Armin Alaedini, PhD (University of Michigan) who discussed the (Cornell University) talked about gluten sensitiv- importance of ataxia patient registries. ity and the immune response in ataxia. Lawrence Saturday afternoon was busy with more Schut, MD (CentraCare Clinic) reviewed what General Session presentations. Nicholas Wood, medication can be considered in ataxia. Dr. John PhD, FRCP, FMedSci (University of London) presented on SCA11 followed by S.H. Subra- mony, MD (University of Texas) who presented on Sporadic Ataxia. Jeremy Schmahmann, MD (Boston University) discussed cognition, emotion, and the cerebellum. Harry Orr, PhD (University of Minnesota Medical School) gave a review of all ataxia research. Michael Fahey, MD (Australia) informed us about “what’s up down under.” Saturday’s banquet was a most enjoyable experience for all who attended. The 50/50 raffle fundraiser was great fun with over 80% of conference attendees participating to raise more than $3,700. Congratulations to the winners of the raffle. Thank you to everyone who donated items for the silent auction and to those that The Flamingo Hotel and Casino in Las Vegas was the location of the 2008 NAF Annual participated in this event which raised over Membership Meeting. $4,500. At the banquet, Dr. John Day gave us a review of the 2008 Ataxia Investigator’s Meeting Day (University of Minnesota) gave the closing (AIM) which was held earlier in the week. presentation of the conference with his “Top 10” Thank you to Dr. Day and all the 2008 AIM review of what we have learned throughout the organizers for their efforts. Michael Parent, weekend. NAF’s Executive Director, presented plaques to Each day’s General Session was followed by a Dr. John Day for his organization of the 2008 question-and-answer session facilitated by Dr. AIM meeting, his years of involvement in ataxia Ranum, Dr. Orr, and Dr. Day which included research and service to the ataxia community, to the presenters of each day. Please watch in future Dr. Susan Perlman for her years of support to issues of Generations, where presentations will NAF, the ataxia community, and ataxia research, be published so all can learn the important and to Dr. Larry Schut for his lifelong contribu- information that was presented. Copies of most tions to NAF, the ataxia community, and ataxia of the presentations are available on the NAF research. website: www.ataxia.org. On Sunday morning the General Session This was an excellent and exciting meeting! program continued with Susan Perlman, MD Thank you again to the outstanding job done by (UCLA) giving an update on FRDA clinical the Arizona Ataxia Support Group! O Gen_0801_25-36.qxd:Layout 1 4/22/08 10:57 AM Page 26

Page 26 Generations Spring 2008

Here is what was said by meeting attendees... Quotes and Top Three Lists from the

“Las2008 Vegas is NAFAnnual a good location for the meeting Membership as answered and helped me understandMeet abouting the there are a lot of things to do after the meeting.” disease process and hope for treatment by the “I commend NAF on all the hard work, the excel- intense research by researchers all over the world.” lent organization and commitment to a quality ex- On Birds of a Feather perience for everyone.” “Was great. Helpful.” “Very informative, presenters were very knowl- edgeable and knew their subjects, all were good “The Birds of a Feather is one of the most impor- presentations.” tant parts of the conference.” “As always, everyone very helpful and friendly.” “It definitely served its purpose of providing those with similar diagnoses to discuss a wide range of “I don’t know how things could be better – food, topics from how to deal with depression to the staff, transportation – all very good.” latest research.” “The speakers are amazing – so dedicated to “Favorite part of meeting each year.” research.” “Good to see old friends again.” “Very well organized. Thank you!” “Information discussed very helpful, informative “NAF did a great job, this was very large.” and exciting to have such a support group that was “Very helpful – All questions were addressed and so comfortable and intimate. Top Three Lists 1) Birds of a Feather 1) Networking 1) Ability to interact with 2) Susan Perlman and the 2) Research Updates doctors informally other excellent speakers 3) Breakout Session Topics 2) Sessions from doctors 3) Fabulous socialization 3) Social Network 1) Speakers opportunities 2) Organization 1) Hearing from researchers 1) Ride Ataxia II 3) Accessibility of restrooms 2) Breakout Groups 2) Dr. Perlman 3) Meeting Others 1) Birds of a Feather 3) Financial Planning 2) Dinner 1) All the speakers 1) Investigator Collaboration 3) Dancing with Ataxia 2) The way everything was 2) General Sessions organized 1) The General Sessions, 3) Meeting old & new friends 3. The banquet especially those covering 1) Breakouts research 1) Breakout Sessions 2) Review at end 2) Friday night reception – 2) Networking/Meeting 3) Question & Answer good opportunity to meet people/Socializing with my people support group members 1) Having so many outstand- 3) “Bookstore” – provided an 3) General Sessions/Meeting ing doctors in this field opportunity to purchase doctors we read about in 2) Excellent organization helpful info Generations 3) Great staff who were always helpful Gen_0801_25-36.qxd:Layout 1 4/22/08 10:57 AM Page 27

Spring 2008 Generations Page 27

The NAF Board of Directors along with the Seattle Ataxia Support Group and the Ataxia Society of Vancouver, Canada would like to invite you to attend the National Ataxia Foundation 52nd Annual Membership Meeting March 20-22, 2009 (Leadership Meeting March19) Join us in Seattle for the Annual Membership Meeting!

The Doubletree Hotel – Seattle Airport is pleased to provide the facilities for the 2009 NAF Annual Meeting. Rooms are available for the special group rate of $139 per night. Please be sure to make your reservations by February 16, 2009 in order to secure the special group rate. If rooms are available, the special rate will be extended three days before and three days after the meeting dates. To book your stay, call toll-free 1-800-222-TREE and ask for the National Ataxia Foundation conference special rate (Group Code: NAF). There are a limited number of ADA rooms available on a first-come, first-serve basis. To reserve an ADA room, you must contact the National Ataxia Foundation at (763) 553-0020. NAF will have a limited number of shower chairs, toilet frames and tub bars available on a first-come, first-serve basis at the hotel. We look forward to seeing you in Seattle! Gen_0801_25-36.qxd:Layout 1 4/22/08 10:57 AM Page 28

Page 28 Generations Spring 2008 A Final Act of Selflessness By Kelly McDonald I’m writing this on what would have been my attitude. I was attaching so much importance to dad’s 63rd birthday. Instead of calling him today these trivial physical accomplishments and to wish him a happy birthday, I will call my failing to see the true greatness of my dad ... his mom, to comfort her in his absence. But when I character. think about it, he’s not really absent. There are Describing his character in some ways is diffi- pictures scattered around my house and there are cult. He was simple when it came to his own plenty of memories. I know the photos will age needs – a minimal wardrobe, a reliable car, a dog and some will inevitably be replaced, and the on his lap, a bike (or two, or actually four; maybe memories will fade or fragment, requiring not so simple there) and an endless supply of reconstruction with bits of imagination. But the chocolate chip cookies. But there was so much lessons he taught, almost entirely through quiet more than met the eye. We’d seen examples, and example, will accompany me for the rest of my directly benefited, from his generosity and life. This is a story of some of those lessons. selflessness throughout our lives, but I’m not My dad was diagnosed with a form of sporadic sure any of us knew the strength of his character ataxia two months after my husband and I until his illness, especially in the final stages. moved 2,000 miles away from our families to I was devastated at first when my sister called start our new lives in Northern California. This and told me that he was writing his own memo- began seven-and-one-half years of torturous rial service. Was he doing it because he had a lot uncertainty, sleepless nights and frequent trans- to say, but was frequently unheard due to the American flights, but it also offered a priceless dysarthria that affected his speech? Did he not opportunity; the opportunity to get to know – trust us to do it like he wanted, or did he not and truly appreciate - my dad. want us to have to do it? It could have been any I call the first few years of his illness the or all of these, but I believe his primary reason “re-learning my dad” phase. I’d known him to was because he didn’t want it to be about him. be a fantastic athlete, a hopeless workaholic, a He’d always been uncomfortable being the borderline neat-freak and a quick-witted practi- center of attention. Regardless of his reasons, cal jokester. But having essentially moved away what transpired was truly unbelievable and what from home at the age of 18, I had not the chance I refer to as his “final act of selflessness”...that to observe and appreciate all of the qualities that being, he made us laugh...hard! only post-teenage lenses can see and process. I When I attempt to describe my dad’s memorial struggled at first to redefine our relationship, service to friends, I tell them it often had the feel which had largely been based on physical of a packed comedy club, in which no one close competitions of some sort. The man who’d been to my dad was safe. The common theme of the quarterback in high school, pitcher in college “food” ran throughout, and he took special care and semi-pro ballplayer, accomplished runner to thank everyone who’d ever fed him, with (who I couldn’t beat until graduate school), and special gratitude paid to those who’d designed my frequent coach was now stumbling and and orchestrated covert missions to smuggle junk needing assistance with basic physical tasks. It food disguised as vegetable casseroles past my was my husband that pointed out the flaw in my health-obsessed mother. He also took the Gen_0801_25-36.qxd:Layout 1 4/22/08 10:57 AM Page 29

Spring 2008 Generations Page 29

opportunity to get the last word in on all sports- encountered.” related rivalries (Roll Tide!) and then “outted” Non-judgmental/Unselfish Soul – “He or made fun of friends and family, in the harm- was a very unselfish person, who rarely judged less way that only he could pull off. others. From a young age, he naturally seemed Although our family had not been privy to his to think of others before himself, preferring to writings prior to the memorial service, we con- give rather than receive praise and attention.” spired to produce our own script, summarizing Philosopher – “When asked how he main- his character in a “Words from the Family” tained such a positive attitude (in light of his piece, written largely by my sister and read disease), he would simply reply, ‘I don’t worry by the two of us at the memorial service. We about the things I can’t do, I just focus on the characterized him as an Educator, Sportsman, things I can’.” Comedian, Non-judgmental/Unselfish Soul, Glutton – “I’ve already alluded to this one, Philosopher, Glutton and Role Model. I’ve but I can’t resist telling a funny story. Less than selected a few of my favorite 12 hours before my dad died, parts of this document to share: my sister walked into his room Educator – “Throughout his “ eating a cookie. He lifted his life, my father loved teaching, I don’t worry eyebrows, indicating he wanted mentoring and educating... a bite. As he had difficulty swal- wanting little acknowledge- about the things lowing, it sat on his tongue until ment...simply deriving enjoy- we decided it would be best to ment from watching others I can’t do, remove it with a spoon. How- learn and accomplish their goals. I just focus on ever, each time my sister tried to His role as an educator lives on, retrieve the cookie, he clenched not only in the hearts of those the things I can. his teeth tightly in protest. We who knew him, but directly finally gave up and let him enjoy through those physicians who his last cookie.” will study his brain (donated to Role Model – “He showed Vanderbilt Medical Hospital) in efforts to”us how to live, but just as importantly, he showed understand his disease.” us how to die – with courage, integrity, humor, Sportsman – “He had a keen love of compe- and the amazing ability to comfort us, as much, tition; however, he was equally supportive and if not more, than we comforted him.” encouraging. At least once he wagered a bet at a This was my dad; these were and are his running race with his youngest sister (the prize, lessons. I feel terribly unlucky to have lost him no surprise, being a steak). He had the win all so prematurely, just as I was re-learning him, but but wrapped up, only to sacrifice it in the end I feel so fortunate to have had him at all. for a ‘tie’ – having already bought the steaks the Editor’s note: The National Ataxia Foundation night before.” is grateful to Kelly McDonald for her contributions to Comedian – “Whether appropriate or ataxia research. inappropriate, my father always had a joke. My I race for Touchstone Elite Women’s Cycling mother relates that his witty sense of humor was Team, based in Berkeley, CA, although our one of the characteristics that first attracted her seven members are spread out over all of North- to him and that remained alive, even in his final ern California. My team was a huge support for days. He never seemed to take himself, or life, too seriously no matter what challenges they Continued on page 31 Gen_0801_25-36.qxd:Layout 1 4/22/08 10:57 AM Page 30

Page 30 Generations Spring 2008 Caregiver’s Corner NAF has permission to reprint the following excerpts from the “The Comfort of Home” series. Safety at Home: Preventing Falls

Falls are serious at any age, but especially for Drinking alcohol also increases risk because older people who are more likely to break a bone it can: when they fall. Falls are the most common cause • Slow reflexes of nursing home placement. The risk of falling • Cause dizziness or sleepiness increases with age. • Alter balance Falls and accidents seldom “just happen.” Reg- • Cause a person to take risks that can lead to ular exercise as well as regular eye and physical falls exams may help reduce the risk of falling. Preventing Falls Getting rid of tripping hazards in the home and Here are some ideas for reducing the risk of wearing nonskid shoes may also help. Getting falls: enough calcium and vitamin D reduces the Outdoors chances of breaking a bone if a fall does occur. • Use a cane or walker If the person in your care has osteoporosis, • Wear rubber-soled shoes that don’t slip they are more likely to break a bone if they fall. • Walk on grass when sidewalks are slick Osteoporosis is called the “silent disease” be- • Put salt or kitty litter on icy sidewalks cause bones become weak with no symptoms. Indoors People often find out they have it when a strain, • Keep rooms free of clutter, especially on bump, fall, or even a cough causes a bone to floors and in hallways break. Get the person in your care tested. • Use plastic or carpet runners Why Do People Fall? • Wear low-heeled shoes • Do not walk in socks, stockings, or slippers Some of the reasons people fall are: • Be sure rugs have skid-proof backs • Tripping or slipping due to loss of footing or • Be sure stairs are well lit and have rails on traction both sides • Slow reflexes, which make it hard to balance • Put grab bars on bathroom walls near tub, or move out of the way of a hazard shower, and toilet • Balance problems • Use a nonskid bath mat in the shower or tub • Reduced muscle strength • Keep a flashlight next to the bed • Poor vision • Add more lights in rooms • Illness • Buy a cordless phone so that no one has to The more medications a person is taking, the rush to answer the phone and so they can call for higher the chances of falling. Certain medicines help if they fall increase the risk: • Blood pressure pills Preventing Broken Bones • Heart medicines if a Fall Occurs • Diuretics (water pills) Falling forwards (on your hands) or backwards • Muscle relaxants (on your buttocks) rather than the side can • Sleeping pills prevent a hip fracture. Falls are responsible for Gen_0801_25-36.qxd:Layout 1 4/22/08 10:57 AM Page 31

Spring 2008 Generations Page 31

90 percent of broken hips. Some people wear A Final Act of Selflessness extra clothes to pad their hips or use special hip Continued from page 29 pads. me over the last couple of years of my dad’s Exercises to Improve Balance illness. We have a webpage, with the link to • While holding the back of a sturdy chair, the National Ataxia Foundation and a photo of sink, or counter: my dad and me, which can be found at www. • Stand on one leg at a time for a minute and touchstonecycling.com/Site/Romance.html. Last year then slowly increase the time. Try to balance I donated all of my race earnings to the NAF. with your eyes closed or without holding on. My team frequently allowed me to keep more of • Stand on your toes for a count of 10, and my winnings or gave me their shares to donate. then rock back on your heels for a count of 10. Their support continues, as this year, all mem- • Make a big circle to the left with your hips, bers agreed to put the NAF logo on our jerseys and then to the right. Do not move your shoul- to further raise awareness about ataxia. I will ders or feet. Repeat five times. continue to save my race earnings throughout Source: National Institute of Health the year to donate to the NAF. I believe that having this wonderful cause has more than once Assistance Dogs contributed to my racing success. O Assistance dogs can make life easier for some disabled people. Service dogs help with physical tasks such as pulling wheelchairs, opening doors TISSUEDONATION and offering payment at cash registers. Hearing If you are interested in helping dogs provide their hard-of-hearing partners with ataxia research by donation of greater independence and security by alerting tissue after death, please contact them to sounds such as sirens and doorbells. Dr. Arnulf Koeppen for information. Skilled companion dogs work as part of a three- Arnulf Koeppen, MD part team with an able-bodied adult, offering Professor of Neurology a sense of security to people with physical or VA Medical Center developmental disabilities such as autism and 113 Holland Ave., Albany, NY 12208 early-onset Alzheimer’s. Phone: 518.626.6373 Fax: 518.626.6369 Assistance dogs are chosen for temperament E-mail: [email protected] when they are puppies; they then learn basic house training, obedience commands, and socialization skills. Upon passing the initial screening, the young Wanted: Photos dogs begin training with professional instructors The summer issue of Generations will for six to nine months. feature a photo spread of the National Dogs that complete the training are matched Ataxia Foundation 2008 Annual Member- with recipients, who spend two weeks training ship meeting. Send us your photos and one-on-one with the dogs at a training facility. they may be published! Disabled recipients are not charged for their Photos should represent a cross section of the meeting and be of interest to all dogs. Generations readers. Please burn photos For more about assistance dogs, contact Canine to a CD and mail it to the NAF office, Attn: Companions for Independence at www.cci.org or Generations Editor. Thanks for your help. call 1-800-572-BARK (1-800-572-2275). O Gen_0801_25-36.qxd:Layout 1 4/22/08 10:57 AM Page 32

Page 32 Generations Spring 2008

where ataxia patients could be seen and treated Chesapeake Chapter efficiently. Through a patient process of waiting By Carl J. Lauter and talking and discovering the Macklin family, It couldn’t have been a more perfect day – a the dream has come to fruition. Libby intro- bright and sunny 45 degrees – to celebrate the duced Donald Dawn, the nephew of Gordon 25th Anniversary of the Chesapeake Chapter’s Macklin and President of the Gordon and Annual Medical Meetings and to announce Marilyn Macklin Foundation (which is funding the inauguration of the Ataxia Center at Johns the initial phase of the Center), and members of Hopkins Medical Institute in Baltimore, MD on the Macklin family: Stan and Peg Macklin, Lisa February 16 at the Montgomery College in and Jim Stargel, Nancy and Dan Hook, and Rockville (see complete story on page 11). Gary and Linda Macklin, without whom we Carl Lauter, President of CC-NAF, welcomed would not be celebrating this occasion. and thanked the 100 people in attendance which Libby then introduced Justin McArthur, included the administrators of Montgomery MBBS, MPH, Director of the Johns Hopkins College, speakers, Johns Hopkins administrators Neurology Department, who gave complimen- and clinical and research scientists, Macklin tary remarks on the creation of the Ataxia family members, JHU Macklin Fellows, and the Center. He, among other administrators of CC-NAF members, friends, and first time JHU, were very understanding and cooperative attendees. Carl then presented the financial with the negotiations involved in the creation of activities of the CC-NAF for 2007: $35,133 the Center, for which we are very thankful. contributed to NAF for several ataxia research Sarah H. Ying, MD, Clinical Director of the funds and $2,000 for administrative and opera- Ataxia Center, presented a short review of tional functions, plus the release of $18,668 from how the center will work explaining the basic an accumulating CC-NAF research fund and a structure which they describe as a “CORE” for $50,000 gift of Gordon Macklin for helping to Clinical, Outreach, Research, and Education. sponsor the 2008 NAF Ataxia Investigator’s Several of the doctors, connected with the Meeting in March 2008. clinical aspects, gave brief presentations of Carl then stated, “It is with honor and great their specialties. Joseph M. Savitt, MD, PhD, pleasure that I can announce, on behalf of Assistant Clinical Director, talked about the the CC-NAF, the establishment of the Ataxia importance of education for building a future for Center at Johns Hopkins University in Baltimore, ataxia and training of new students in research. Maryland.” He then introduced Libby Labash, David Solomon, MD, PhD, Assistant Professor Vice-President of CC-NAF and Mistress of of Neurology and Otolaryngology, indicated his Ceremonies for the day. topic would be genetic counseling and testing. Libby welcomed everybody and proceeded to Paul Dash, MD, Clinical Associate, Division describe how the Ataxia Center came to be. It of Cognitive Neuroscience, would be involved had been a long vision of Libby and Norman with cognitive testing. Zoltan Mari, MD, Labash that such a facility could exist nearby Assistant Professor of Neurology, discussed Gen_0801_25-36.qxd:Layout 1 4/22/08 10:57 AM Page 33

Spring 2008 Generations Page 33

the functions of an interdisciplinary team Mikulski, and from NAF President, DeNiece and the technique of deep brain stimulation. Roach and Michael Parent, NAF’s Executive Howard S. Ying, MD, PhD, Assistant Professor Director. The Ataxia Center ceremonies ended of Ophthalmology, said his interest would be eye with a ceremonial ribbon cutting. A wide bright evaluation in the ataxia patient. Laura Marsh, red ribbon strung across the front of the stage, MD, Associate Professor of Psychiatry, remarked held by members of the Macklin family, JHU on her specialty of psychiatry and the neurolog- and CC-NAF members, was cut by the two ical patient and Jenn Millar, MSPT, discussed Macklin daughters, Lisa and Nancy. the importance of rehabilitative therapy for the The program continued with a presentation, ataxic patient. She also mentioned a colleague, “The Cerebellum and the Control of Move- Jennifer Keller, PT,at adjoining Kennedy-Krieger ment,” by Reza Shadmehr, PhD, Associate Institute, also performing physical therapy for Professor of Biomedical Engineering, Johns patients. Hopkins. Snacks were graciously provided by local Libby Labash, having recently lost her faithful merchants and we returned to hearing Dr. Sarah and loving husband on December 5, 2007, Ying describe briefly the basic research and ed- presented, with broken heart, a loving memorial ucation structure of the Clinic, and introduce of Norman, which was followed by touching the research team: Aaron Wong, a PhD candi- tributes by Bill Lee, current CC-NAF Secretary date in Biomedical Engineering, who brilliantly and co-founder of CC-NAF, and Dick Sargent, discussed his work on “Predictions and the current A-Team member and long-term Cerebellum.” Jerry Prince, PhD, Professor of member. Electrical and Computer Engineering, then During lunch break two large birthday cakes presented his work with “Imaging the Cerebel- were enjoyed celebrating the 25th year anniver- lum.” sary of holding Medical Meetings. An Ataxia Awareness Campaign was held on The afternoon lecture titled “Antibodies in the Johns Hopkins campus earlier in the year Ataxia” by Ejaz Shamim, MD, MS, Clinical where questions were posted throughout the Neurology Fellow, Medical Neurology Branch, campus and the undergrads and graduate stu- NINDS, Bethesda, MD summarized some of dents were to respond to them. It went so well the work that has been done there for the past and they are so interested and cooperative with several years. CC-NAF, that they may do this activity for A special attraction of the day was the appear- IAAD this year. Also, graduate students in ance of Bill Nye, The Science Guy, whose Neurology were asked to write a grant proposal family tree is filled with ataxia members. He telling why they would want to attend the CC- gave a joyful talk on “Just carelessness, door- NAF Meeting and what they would expect to jambs, and the Darby glide,” which brought learn from it. The winners would be titled in some of the aspects and problems a family “Macklin Fellows.” Ten winners were presented experiences with ataxia. With his enthusiasm, he with certificates from JHU and the CC-NAF could well create public awareness of ataxia. presented them with a copy of Dr. Susan The afternoon finished with 45 minutes of an Perlman’s book: “Evaluation and Management open forum discussion with questions to the of Ataxic Disorders – An Overview for speakers from the attendees. This is one of the Physicians.” Letters of congratulations and more valuable times of the medical meetings, as support were received from the U.S. Senators from Maryland, Benjamin Cardi and Barbara Continued on page 34 Gen_0801_25-36.qxd:Layout 1 4/22/08 10:57 AM Page 34

Page 34 Generations Spring 2008

Chapter and Support Group News downtown Denver, there will be a NAF Continued from page 33 fundraiser with a musician, a vocalist and a dance group performing, a silent auction and delicious questions can be answered and the medical staff hors d’oeuvre-sized desserts for sale. is so pleased to participate. In turn, we of CC-NAF have volunteers to participate in the Los Angeles Ataxia Support Group various research studies being carried out at Johns By Sid Luther Hopkins and the NIH. The Los Angeles Ataxia Support Group meets As a summary, in respect to the generosity of bi-monthly at the Westside Center for Inde- our members and in a very significant way to the pendent Living (WCIL). We meet on the philanthropy of the Macklin family, in memory second Saturday of the month at 12901 Venice of two members, Gordon and Marilyn Macklin, Blvd. between the hours of 2 to 4 p.m. approximately $49,214 has been given over the last nine years in the form of direct gifts to CC- At our last meeting on March 8 we watched the NAF or from their Challenge Grant for research, NAF Video “Together there is Understanding.” in addition to the current $150,000 for the establishment of the Johns Hopkins Ataxia Cen- ter, the only Ataxia Center on the East Coast. In addition, the Macklin Family has provided $50,000 toward sponsorship of the AIM meeting held concurrently with the 2008 NAF annual membership meeting. We are dedicated to finding significant funding for continued research on the causes and potential cures for ataxia and for the better- ment of the Ataxia Clinic. Los Angeles Ataxia Support Group We also discussed Section 8 Housing. A few Denver Area Ataxia Support Group of our members are trying to find affordable By Tom Sathre housing for disabled. The Denver Ataxia Support Group met at At our May 10 meeting we are planning to Swedish Hospital on March 8 for its quarterly have a speech and swallowing specialist from meeting. We enjoyed a potluck lunch, massages UCLA Medical Center in attendance. Last from four trainees at Heritage College, and a November Dr. Joanna Jen from UCLA came presentation by a local non-medical home care and gave us about updates in ataxia research and agency. The presentation took about two hours answered questions. We also had pizza. and was frequently interrupted by questions, Most recently we have taken several group which shows the interest the audience had in the outings with Casa Colina Rehabilitation Center, topic! About 20 people were there at 1 p.m., the including kayaking, sailing and whalewatching. announced time of the meeting – about half were Great fun for everyone involved. We also did a care-givers and half were ataxians – and more trip to the Aquarium of the Pacific followed by a came in later. In the business part of the meet- late lunch at a local restaurant. This spring we are ing, notes were taken and the address list was planning on going to some concerts in the park. updated. On Sunday, June 8, from 6-8 p.m. in During the month I received several phone the Tivoli Turnhalle on the Auraria campus in calls and e-mails regarding ataxia questions. Gen_0801_25-36.qxd:Layout 1 4/22/08 10:57 AM Page 35

Spring 2008 Generations Page 35

We are looking forward to the NAF Annual what physical therapy can do for us as ataxia Membership Meeting and the upcoming MED patients in helping us with strengthening our life trade show to be held in May at the Long bodies and loosening tight muscles. One of her Beach Convention Center and the Abilities students was also present to help Professor Expo in June to be held at the Anaheim Con- Stephenson demonstrate some of the helpful vention Center. For more information visit stretching exercises. She also answered questions www.ataxia.org/chapters/LosAngeles/default.aspx or from the group. Professor Stephenson has an www.geocities.com/HotSprings/Falls/6629. ataxia clinic as part of her curriculum each year that the group participates in and USF has a Northern California Support Group full-time Physical Therapy Clinic. By Deborah Omicitin The rest of the afternoon we were treated to a session with Dr. Tom Clouse of “Dancing with- Dr. David Schaffer of the Helen Wills Neuro- Ataxia” fame. Dr. Clouse went into great detail science Institute at UC Berkeley was our guest explaining that part of our problem with walking speaker in October 2007. His timely topic was as ataxians is our mind set and our posture. He had several volunteers come up to re- learn how to walk and in a short time two of them made remarkable progress. I even joined in the fun and found I have a lot of work to do! Dr. Clouse explained we need to re-center ourselves at our “belt” and walk from our knees and stop looking at our feet, because if we lift our knees, of course, the feet naturally follow. Afterwards we were privileged to Northern California Support Group have Dr. Clouse and his partner dance for us and were very impressed! It was “Human Embryonic Stem Cells: Fact and such a thrill to have Dr. Clouse there with us! Fiction.” Our next meeting will be on April 12 We’re hoping to have him back another time for at Our Savior’s Lutheran Church at 1035 Carol an indoor and hopefully warmer session. Lane, Lafayette at 11:30 a.m. Thanks to all the brave group members who shivered along with me. It’s not supposed to be Tampa Bay Area Support Group cold and windy in Tampa in March! By Chris Frohna We had a good turnout at our Seventh Annual Utah Support Group TBASG Picnic on March 8 despite the unusu- By Julia Kleinschmidt ally cool and windy weather. Craig Baker, our Vice President, was our chef, cooking burgers The February 27 meeting, with speech pathol- and chicken, and everyone brought a dish to ogists presenting “Ataxia and Speech Therapy: share. The picnic was held at Phillippe Park in Can It Help and How?” was very informative. Safety Harbor. On May 7 many in the group will attend the After lunch we were privileged to have Utah Opera’s production of Don Giovanni. Professor Jeannie Stephenson, PT, MS, NCS of Each year since 1998, the Community Education the USF School of Physical Therapy and Rehabilitation Sciences give us her input on Continued on page 36 Gen_0801_25-36.qxd:Layout 1 4/22/08 10:57 AM Page 36

Page 36 Generations Spring 2008

Chapter and Support Group News Continued from page 35 News & Notes Director of the opera company has arranged for Your E-mail Address and special accommodations for people with Address Changes Are Requested visual impairment and other special needs. Help NAF keep its records current and So our group enjoys a pre-opera talk in which, complete and reduce postage expenses. in addition to information on the production, Your e-mail address is especially important props are brought down from the stage to be to update NAF’s current database. enjoyed close up. During the production, those Please e-mail your name, mailing address, with visual impairment wear headphones in phone number and e-mail address to Julie which the stage action is described. It’s a Braun at [email protected] at your earliest convenience. wonderful evening. On May 14, our guest speaker will be Dr. Combined Federal Campaign Number Stefan Pulst, Chair of the University of Utah’s The National Ataxia Foundation’s Com- bined Federal Campaign (CFC) number is Neurology Department and SCA researcher. 10752. This program provides a convenient way to donate to the Foundation and pro- Tri-State Ataxia Support Group vides great benefit to those with ataxia. By Denise Mitchell Please give as generously as you can and please ask your co-workers to also give to On April 2, the Tri-State Ataxia Support the National Ataxia Foundation. Group was formed at Beth Israel Hospital in Using GoodSearch and iGive? New York City. There was a great turnout and Are you using the two great websites that everyone enjoyed getting to know each other. support the National Ataxia Foundation? The group will meet the first Wednesday of each Use GoodSearch.com and iGive.com and month. Mark and Denise Mitchell are going to each time you search or make a purchase, be the leaders of the group. NAF receives a donation. Please bookmark these sites today! The next meeting is May 7 at 6:30 p.m. in the Friedman Conference Center (Room 1) on the Correction second floor of the Phillips Ambulatory Care The photo caption on page 34 of the Winter 2007-08 issue of Generations Center (PACC) 10 Union Square East. incorrectly identified June Wood as Jane Please RSVP to Jeannie Soto-Valencia at Wood. Our apologies to June. (212) 844-8711. Desserts will be served. O

Tri-State Ataxia Support Group Gen_0801_37-48.qxd:Layout 1 4/22/08 10:59 AM Page 37

Spring 2008 Generations Page 37

NAF Merchandise BOOKS VIDEO/CD Ten Years to Live by Henry Schut Ballads of a Family Man CD The story of the Schut family’s struggle with heredi- 10 songs in memory of Billa Ballard. $5 of purchase tary ataxia and the impact it had on this extended price goes to support the work of the NAF. $13 family. Paperback, photos. $8.75 “Together there is Understanding” VHS or DVD Living with Ataxia by Martha Nance, MD Continuation and expansion of “Together There is A compassionate, easy to understand explanation Hope.” 50-minute in-depth look at ataxia and ataxia and ideas on how to live with ataxia. Paperback. research. VHS $20 or DVD $25 $14 Healing Wounded Doctor-Patient Relationships SHIRTS/MISCELLANEOUS by Linda Hanner and contributor John J. Witek, MD 2008 Annual Membership Meeting T-Shirt Offers demonstrations of how effective dialog can Dark blue with “Blazing a Trail in help move patients and doctors to productive Research” logo. Various sizes. $10 NEW! relationships. Paperback. $10 NAF Shoulder Bag Friedreich’s Ataxia Research Cookbook Blue with white NAF logo. 11x15x2 inches. $10 Julie Karjalahti of Savage, Minnesota has published NAF Polo Shirt this cookbook to raise money for FA research. Royal blue w/ white embroidered NAF logo. $27.50 Includes recipes from around the U.S. $12 NAF Denim Shirt Recipes and Recollections Denim with white embroidered NAF logo. $27.50 by Kathryn Hoefer Smith “Ataxia is not a foreign cab” T-Shirt Full of delicious recipes and recollections, this book White. New design. Sizes small to XXX-large. $10 is perfect for fund raisers. Proceeds go towards FA research. Paperback. $10 “Ataxia is not a foreign cab” Sweatshirt Ash colored. Sizes small to XXX-large. $20 Managing Speech & Swallowing Problems by G.N. Rangamani, PdD, CCC-SLP NAF Baseball Caps White w/ blue embroidered NAF logo or blue w/ A basic guide to understanding and managing white embroidered logo. Velcro strap for sizing. $10 speech and/or swallowing problems. $7.50 Window Cling or Bumper Sticker Evaluation and Management of Ataxic Disorders, $1 each or 6 for $5 an Overview for Physicians by Susan L. Perlman, MD NAF Ataxia Awareness Band Blue. One size fits all. $2 A guide for physicians treating ataxia patients. Paperback. $5 NAF Ataxia Awareness Ribbon Magnet Blue with white lettering/logo. $4

To order, call (763) 553-0020, fax (763) 553-0167 or mail this completed form to National Ataxia Foundation, 2600 Fernbrook Lane, Suite 119, Minneapolis, MN 55447

Description Qty. Size Each Total NAME: ______

______ADDRESS: ______CITY ______STATE: ____ ZIP: ______PHONE: ______For credit card orders, please fill out the following information ______(you must include phone number and signature): SUBTOTAL: ______CIRCLE ONE: Visa Mastercard Shipping: (Add) $5.00 NAME ON CARD: ______(Outside U.S. add additional $4) ______CARD #: ______ORDER TOTAL: ______EXP DATE:______SIGNATURE: ______PLEASE ALLOW 4-6 WEEKS FOR DELIVERY Gen_0801_37-48.qxd:Layout 1 4/22/08 10:59 AM Page 38

Page 38 Generations Spring 2008 Chapters, Support Groups and Ambassadors The following is a list of National Ataxia Foundation chapters, support groups and ambassadors. The use of these names, addresses and phone numbers for any purpose other than requesting information regarding NAF or joining a chapter or support group is strictly prohibited. We encourage you to contact the chapter or group nearest you. Chapters TUCSON AREA S.G. Bart Beck Chesapeake Chapter 7665 E. Placita Luna Preciosa Tucson, AZ 85710 Carl J. Lauter, President (520) 885-8326 3200 Baker Circle, I-117 E-mail: [email protected] Adamstown, MD 21710-9666 Web: www.geocities.com/azataxiasg (301) 644-1836 www.ataxia.org/chapters/Tucson/default.aspx E-mail: [email protected] Web: www.geocities.com/HotSprings/Oasis/4988/ California www.ataxia.org/chapters/Chesapeake/default.aspx LOS ANGELES ATAXIA S.G. Sid Luther Louisiana Chapter 339 W. Palmer, Apt. A Carla Hagler, President Glendale, CA 91204 PMB 51056 (818) 246-5758 2250 Gause Blvd. E-mail: [email protected] Slidell, LA 70461 Web: www.geocities.com/HotSprings/Falls/6629/ (985) 643-0783 www.ataxia.org/chapters/LosAngeles/default.aspx E-mail: [email protected] Jim Fritz Web: www.angelfire.com/la/ataxiachapter (310) 397-5208 www.ataxia.org/chapters/Louisiana/default.aspx E-mail: [email protected] Mississippi Chapter Northern California S.G. Camille Daglio, President Deborah Omictin P.O. Box 17005 26840 Edridge Ave. Hattiesburg, MS 39404 Hayward, CA 94544 E-mail: [email protected] (510) 783-3190 www.ataxia.org/chapters/Mississippi/default.aspx E-mail: [email protected] Web: www.geocities.com/casupport/ Support Groups www.ataxia.org/chapters/NorthernCalifornia/default.aspx Alabama Orange County S.G. BIRMINGHAM S.G. Daniel Navar 829 W. Gary Ave. Becky Donnelly Montebello, CA 90640 16 The Oaks Circle (323) 788-7751 Hoover, AL 35244 E-mail: [email protected] (205) 987-2883 Web: www.geocities.com/ocasgg/ E-mail: [email protected] www.ataxia.org/chapters/OrangeCounty/default.aspx www.ataxia.org/chapters/Birmingham/default.aspx San Diego S.G. Arizona Earl McLaughlin PHOENIX AREA S.G. 2087 Granite Hills Dr. Rita Garcia El Cajon, CA 92019 2322 W. Sagebrush Dr. (619) 447-3753 Chandler, AZ 85224-2155 S.G. e-mail: [email protected] (480) 726-3579 Earl’s e-mail: [email protected] E-mail: [email protected] Web: www.geocities.com/ataxia_sdasg www.ataxia.org/chapters/Phoenix/default.aspx www.ataxia.org/chapters/SanDiego/default.aspx Gen_0801_37-48.qxd:Layout 1 4/22/08 11:00 AM Page 39

Spring 2008 Generations Page 39

Colorado E-mail: [email protected] DENVER AREA ATAXIA S.G. Richard Carr Donna & Tom Sathre 120 South Elm 5902 W. Maplewood Dr. Mount Prospect, IL 60056 Littleton, CO 80123 (847) 253-2920 (303) 794-6351 Fax: (801) 640-8602 E-mail: [email protected] E-mail: [email protected] www.ataxia.org/chapters/Chicago/default.aspx www.ataxia.org/chapters/Denver/default.aspx METRO AREA CHICAGO ATAXIA S.G. Connecticut Christopher Marsh See Tri-State Ataxia S.G. under New York 5633 N. Kenmore, Apt. 059 Chicago, IL 60660 Florida (773) 334-1667 NORTHEAST FLORIDA S.G. E-mail: [email protected] June McGrane http://health.groups.yahoo.com/group/u-r-notalone/ 54 Troon Terrace www.ataxia.org/chapters/ChrisMarsh/default.aspx Ponte Vedra, FL 32082-3321 (904) 273-4644 Indiana E-mail: [email protected] LOUISVILLE AREA ATAXIA S.G. www.ataxia.org/chapters/NortheastFlorida/default.aspx Monica Smith ORLANDO ATAXIA S.G. 1102 Ridgwood Dr. Apt.4 Huntingburg, IN 47542 Jim Ellson (812) 630-4783 E-mail: [email protected] or [email protected] E-mail: [email protected] www.ataxia.org/chapters/Orlando/default.aspx www.ataxia.org/chapters/Louisville/default.aspx TAMPA BAY S.G. Crystal (Chris) Frohna Kansas 9753 Elm Way KANSAS CITY S.G. Tampa, FL 33635 Lois Goodman (813) 453-1084 729 S. Clark St. E-mail: [email protected] Fort Scot, KS 66701 Web: www.flataxia.org (620) 223-1996 www.ataxia.org/chapters/TampaBay/default.aspx www.ataxia.org/chapters/KansasCity/default.aspx Georgia Louisiana GREATER ATLANTA AREA S.G. See Louisiana Chapter Greg Rooks Maine 320 Peters St., Unit 12 Atlanta, GA 30313 MAINE SUPPORT GROUP (404) 822-7451 Kelley Rollins E-mail: [email protected] P.O. Box 113 Bowdoinham, ME 04008 Dave Zilles E-mail: [email protected] 2400 Kimbrough Ct. Atlanta, GA 30350 Monique Godbout (770) 399-6710 56 King Road E-mail: [email protected] Lisbon, ME 04250 E-mail: [email protected] Lynn Robinette Web: www.ataxiaME.com 1971 Sumter Court Lawrenceville, GA 30044 www.ataxia.org/chapters/Maine/default.aspx (770) 982-0275 Maryland E-mail: [email protected] HOWARD COUNTY S.G. www.ataxia.org/chapters/Atlanta/default.aspx Kathy van’t Hoff Illinois (301) 854-2650 GREATER CHICAGO AREA ATAXIA S.G. E-mail: [email protected] Craig Lisack Tim Daly 410 W. Mahogany Ct., Unit 505 (410) 715-1241 Palatine, IL 60067 (847) 496-7544 Continued on page 40 Gen_0801_37-48.qxd:Layout 1 4/22/08 11:00 AM Page 40

Page 40 Generations Spring 2008

Chapters, Support Groups and Ambassadors Denise Mitchell Continued from page 39 E-mail: [email protected] www.ataxia.org/chapters/Tri-State/default.aspx Web: www.geocities.com/hcasg/ North Carolina www.ataxia.org/chapters/HowardCounty/default.aspx See South/North Carolina Massachusetts Ohio NEW ENGLAND S.G. CENTRAL OHIO S.G. Donna & Richard Gorzela Cecelia Urbanski 45 Juliette St. 7852 Country Court Andover, MA 01810 Mentor, OH 44060 (978) 475-8072 (440) 255-8284 www.ataxia.org/chapters/NewEngland/default.aspx E-mail: [email protected] Minnesota www.ataxia.org/chapters/CentralOhio/default.aspx TWIN CITIES AREA S.G. Oregon Lenore Healey Schultz WILLAMETTE VALLEY ATAXIA S.G. 2549 32nd Ave. S. Malinda Moore, CCC-SLP Minneapolis, MN 55406 Albany General Hospital (612) 724-3784 1046 Sixth Ave. S.W. E-mail: [email protected] Albany, OR 97321 www.ataxia.org/chapters/TwinCities/default.aspx (541) 812-4162 Fax: (541) 812-4614 E-mail: [email protected] Mississippi www.ataxia.org/chapters/Willamette/default.aspx See Mississippi Chapter Pennsylvania Missouri SE PENNSYLVANIA S.G. KANSAS CITY S.G. Liz Nussear Jim Clark (610) 277-7722 6605 N. Holmes E-mail: [email protected] Gladstone, MO 64118 www.ataxia.org/chapters/SEPennsylvania/default.aspx (816) 468-7260 E-mail: [email protected] South/North Carolina www.ataxia.org/chapters/KansasCity/default.aspx CAROLINAS S.G. MID-MISSOURI ATAXIA S.G. Cece Russell Roger Cooley 1305 Cely Rd. 1609 Cocoa Court Easley, SC 29642 Columbia, MO 65202 (864) 220-3395 (573) 474-7232 before noon E-mail: [email protected] www.ataxia.org/chapters/RogerCooley/default.aspx www.ataxia.org/chapters/Carolinas/default.aspx New Jersey Texas See Tri-State Ataxia S.G. under New York GOLDEN TRIANGLE AREA S.G. Dana LeBlanc New York 2801 W. Sunset #59H CENTRAL NEW YORK ATAXIA S.G. Orange, TX 77630 Linda Johnson (409) 883-5570 2849 Bingley Rd. E-mail: [email protected] Cazenovia, NY 13035 Web: http://ladyd1973.tripod.com/index.html E-mail: [email protected] www.ataxia.org/chapters/GoldenTriangle/default.aspx www.ataxia.org/chapters/CentralNewYork/default.aspx HOUSTON AREA S.G. TRI-STATE ATAXIA S.G. Angela Cloud Jeannie Soto-Valencia 9405 Hwy 6 South Beth Israel Dept. of Neurology, Suite 2R Houston, TX 77083 10 Union Square East (281) 693-1826 New York, NY 10003 E-mail: [email protected] (212) 844-8711 www.ataxia.org/chapters/Houston/default.aspx Gen_0801_37-48.qxd:Layout 1 4/22/08 11:00 AM Page 41

Spring 2008 Generations Page 41

NORTH TEXAS S.G. www.ataxia.org/chapters/Chandu/default.aspx David Henry Jr. 7 Wentworth Ct. Ambassador Listing Trophy Club, TX 76262 E-mail: [email protected] Alabama www.ataxia.org/chapters/NorthTexas/default.aspx Dianne Blain Williamson 123 Leigh Ann Rd. Utah Hazel Green, AL 35750 Dr. Julia Kleinschmidt (256) 828-4858 Moran Eye Center, U of Utah E-mail: [email protected] 50 N. Medical Dr. www.ataxia.org/chapters/DianneWilliamson/default.aspx Salt Lake City, UT 84132 (801) 585-2213 Millard H. McWhorter III E-Mail: [email protected] P.O. Box 1457 www.ataxia.org/chapters/Utah/default.aspx Andalusia, AL 36420 (334) 222-3423 Virginia E-mail: [email protected] See Chesapeake Chapter www.ataxia.org/chapters/MillardMcWhorter/default.aspx Washington Arkansas SEATTLE AREA Judy and David King Milly Lewendon 17 Sanchez Point 14104 107th Ave. NE Hot Springs Village, AR 71909 Kirkland, WA 98037 E-mail: [email protected] (425) 823-6239 www.ataxia.org/chapters/JudyKing/default.aspx Milly’s e-mail: [email protected] S.G. e-mail: [email protected] California www.ataxia.org/chapters/Seattle/default.aspx Barbara Bynum 3801 W. Bailey Electronic Support Groups Merced, CA 95340 (209) 383-1275 E-NAF (ELECTRONIC NAF) S.G. www.ataxia.org/chapters/BarbaraBynum/default.aspx Jim Kardos 1283 Westfield SW Mike Fernandes North Canton, OH 44720 7251 Brentwood Blvd. #114 (330) 499-4060 Brentwood, CA 94513 E-mail: [email protected] (925) 516-6906 www.ataxia.org/chapters/E-NAF/default.aspx E-mail: [email protected] www.ataxia.org/chapters/MikeFernandes/default.aspx International Support Groups Mike Betchel 315 W. Alamos, Apt. 141 Canada — British Columbia Clovis, CA 93612 ATAXIA SOCIETY VANCOUVER (559) 281-9188 Brenda Dixon E-mail: [email protected] 206-8611 Ackroyd Rd. www.ataxia.org/chapters/mike/default.aspx Richmond, B.C. V6X 3P4 (604) 273-2789 Connecticut E-mail: [email protected] or [email protected] Terre Di Placito Web: www.bcataxia.org 107 Barton St. www.ataxia.org/chapters/Vancouver/default.aspx Torrington, CT 06790 (860) 489-5092 India www.ataxia.org/chapters/TerreDiPlacito/default.aspx SAMAG (INDIA ATAXIA S.G.) Chandu Prasad George.CH, Florida H-No:5-9520, Sri Laxmi Nagar Colony, Old Alwal Christina Sugars Secunderabad, 500 010 India 302 Beach Dr. Phone: 0091-040-27971043 Destin, FL 30541 Mobile: 0091-9949019410 Fax: 091-040-27971043 (850) 654-2817 E-mail: [email protected] E-mail: [email protected] Continued on page 42 Gen_0801_37-48.qxd:Layout 1 4/22/08 11:00 AM Page 42

Generations Spring 2008 Page 42

Chapters, Support Groups and Ambassadors 8555 Brownsville Rd. Continued from page 41 Brownsville, KY 42210 (270) 597-3854 www.ataxia.org/chapters/JaniceJohnson/default.aspx E-mail: [email protected] www.ataxia.org/chapters/ChristinaSugars/default.aspx Albin Douglas Johnson 10602 Tarrytowne Dr. Jim Henderson Louisville, KY 40272 3212 Lee Shore Loop (502) 751-4585 Orlando, FL 32820 www.ataxia.org/chapters/AlbinJohnson/default.aspx (407) 568-9092 E-mail: [email protected] Maryland www.ataxia.org/chapters/JimHenderson/default.aspx Karen Rosenberger Thomas Clouse, MD 6411 Spring Forest Rd. 1604 Cheshire Circle S. Frederick, MD 21701 Lehigh Acres, FL 33936 (301) 682-5386 (239) 989-5150 E-mail: [email protected] E-mail: [email protected] www.ataxia.org/chapters/KarenRosenberger/default.aspx www.ataxia.org/chapters/ThomasClouse/default.aspx Michigan Georgia Lynn K. Ball Kristie Adams 35015 Riverview Dr. 258 Beaufort Rd. Paw Paw, MI 49079 Savannah, GA 31419 (269) 657-5191 E-mail: [email protected] E-mail: [email protected] www.ataxia.org/chapters/KristieAdams/default.aspx www.ataxia.org/chapters/LynnBall/default.aspx Diana Kimmel Minnesota 3607 Shepherds Ln Loganville, GA 30052 Lori Goetzman E-mail: [email protected] 5179 Meadow Dr. www.ataxia.org/chapters/DianaK/default.aspx Rochester, MN 55904 (507) 282-7127 Illinois E-mail: [email protected] Elaine Darte www.ataxia.org/chapters/LoriGoetzman/default.aspx 36 Lindorf Dr. Debbie Kelly Belleville, IL 62223 310 Fern St. #7 (618) 397-3259 Big Lake, MN 55309 www.ataxia.org/chapters/SouthernIllinois/default.aspx (763) 263-1812 Kevin Donnelli www.ataxia.org/chapters/DebbieKelly/default.aspx 6525 Thomas Parkway Julie Schuur Rockford, IL 61114 218 Cashin Dr. (815) 633-8620 Luverne, MN 56156 www.ataxia.org/chapters/KevinDonnelli/default.aspx (507) 283-2555 Indiana E-mail: [email protected] Jenney Roemke www.ataxia.org/chapters/JulieSchuur/default.aspx 4522 Shenandoah Circle W. Missouri Ft. Wayne, IN 46835 Susan L. Strode, PhD (219) 485-0965 www.ataxia.org/chapters/JenneyRoemke/default.aspx 12 Jackson #811B Jefferson City, MO 65101 Iowa (573) 659-4759 Emily Medina E-mail: [email protected] 3720 Patricia Dr. #1 Web: www.dr-susie.com Urbandale, IA 50322 New York (515) 727-8713 E-mail: [email protected] Valerie Ruggiero 36 West Redoubt Rd. Kentucky Fishkill, NY 12524 Janice Johnson (845) 897-5632 Gen_0801_37-48.qxd:Layout 1 4/22/08 11:00 AM Page 43

Spring 2008 Generations Page 43

E-mail: [email protected] www.ataxia.org/chapters/DickSargent/default.aspx www.ataxia.org/chapters/ValerieRuggiero/default.aspx Washington Diane P. Hall Linda Jacoy 210 E. Utica St. PO Box 19045 Buffalo, NY 14208 Spokane, WA 99217 (716) 881-0677 (509) 482-8501 www.ataxia.org/chapters/DianeHall/default.aspx www.ataxia.org/chapters/Spokane/default.aspx Mary Ann Costa 460 Brielle Ave. International Ambassadors Staten Island, NY 10314 (718) 317-3802 American Samoa www.ataxia.org/chapters/MaryAnn/default.aspx Bob Coulter Ohio P.O. Box 9062 James Kardos American Samoa 96799 1283 Westfield S.W. (684) 688-2437 North Canton, OH 44720 Australia (330) 499-4060 Renee Moore (Nee McCallum) E-mail: [email protected] 44 Lotherton Way www.ataxia.org/chapters/E-NAF/default.aspx Hocking, W. Australia 6065 Joe Miller 61-8-9404-7052 Box 148 E-mail: [email protected] Mesopotamia, OH 44439 www.ataxia.org/chapters/ReneeMoore/default.aspx (440) 693-4454 E-mail: [email protected] Canada www.ataxia.org/chapters/JoeMiller/default.aspx Susan M. Duncan #401-1330 Richmond Rd. Oklahoma Ottawa, Ontario K2B 8J6 Mark Dvorak (613) 820-7900 915 Thistlewood E-mail: [email protected] Norman, OK 73072 www.ataxia.org/chapters/SusanDuncan/default.aspx (405) 447-6085 Cathy Chamberlain E-mail: [email protected] 551 Vermilyea Rd. www.ataxia.org/chapters/Ambassador/default.aspx Belleville, Ontario K8N 4Z5 Darrell Owens (613) 962-9623 5700 S.E. Hazel Rd. www.ataxia.org/chapters/CathyCamberlain/default.aspx Bartlesville, OK 74006 Prentis Clairmont (918) 331-9530 299 Somerset West, Apt. 402 E-mail: [email protected] Ottawa, Ontario K2P 2L3 www.ataxia.org/chapters/DarrellOwens/default.aspx (613) 864-8545 Texas E-mail: [email protected] www.ataxia.org/chapters/PrentisClairmont/default.aspx Jose Julio Vela 6702 Long Meadow Terry Greenwood Corpus Christi, TX 78405 37 Ericsson Bay (361) 993-9006 Winnipeg, Manitoba R3K 0T8 www.ataxia.org/chapters/JoseJulioVela/default.aspx (204) 885-3955 E-mail: [email protected] Barbara Pluta www.ataxia.org/chapters/TerryGreenwood/default.aspx 356 Las Brisas Blvd. Seguin, TX 78155-0193 India (830) 557-6050 Abhinav Kedia E-mail: [email protected] A9/7A Gomti Apartments, Kalkaji Extension www.ataxia.org/chapters/BarbaraPluta/default.aspx New Delhi-19 Virginia Phone: 0091-011-29960809/29962759/41861809 Mobile: 0091-0-9466355238 Dick Sargent E-mail: [email protected] (703) 321-9143 www.ataxia.org/chapters/AbhinavKedia/default.aspx E-mail: [email protected] O Gen_0801_37-48.qxd:Layout 1 4/22/08 11:00 AM Page 44

Page 44 Generations Spring 2008 Calendar of Events Wednesday, May 7, 2008 Dr. Kristie Spencer, Professor, Speech-Language Tri-State Ataxia Support Gzroup Meeting Pathologist at University of Washington. Contact 6:30 p.m. at the Friedman Conference Center Milly Lewendon at [email protected]. (Conference Room One) second floor of Phillips www.ataxia.org/chapters/Seattle/default.aspx. Ambulatory Care Center (PACC), 10 Union Square Wednesday, May 14, 2008 East, New York, NY. Desserts will be served. RSVP Utah Ataxia Support Group to Jeannie Soto-Valencia (212) 844-8711. 7 p.m. at the University of Utah John A. Moran Saturday, May 10, 2008 Eye Center. Special Guest speaker Dr. Stefan Pulst, Kansas City Area Ataxia Support Group Chairman of the Dept. of Neurology, Univ. of Utah 2-4 p.m. at the Northeast Library, 65 Wilson Ave, School of Medicine. Contact Julia Kleinschmidt at Kansas City, MO. Contact Lois Goodman (620) [email protected] for more informa- 223-1996 or Jim Clark at clarkstone9348@ tion. www.ataxia.org/chapters/Utah/default.aspx. sbcglobal.net. www.ataxia.org/chapters/Kansas Saturday, May 17, 2008 City/default.aspx. Greater Atlanta Ataxia Support Group Meeting Los Angeles Area Ataxia Support Group 1 p.m. at Emory Center for Rehabilitation Medicine, 2-4 p.m. The Westside Center for Independent 1441 Clifton Rd, Room 101, Atlanta, GA. www. Living, 12901 Venice Beach, CA. Contact Sid ataxia.org/chapters/Atlanta/default.aspx. Luther for more information (818) 246-5758. www.ataxia.org/chapters/LosAngeles/default.aspx. Orange County Ataxia Support Group Meeting North Texas Ataxia Support Group Meeting 1:30-4 p.m. Orange Coast Memorial Medical Center (in the basement, next to the cafeteria), 10 a.m.-noon at Los Colinas Medical Center, 6800 9920 Talbert Ave., Fountain Valley, CA. Contact Mac Arthur Blvd at Hwy 161, Irving, TX. David Daniel Navar at [email protected]. www.ataxia.org/ Henry, Jr. www.ataxia.org/chapters/NorthTexas/ chapters/OrangeCounty/default.aspx. default.aspx. SE Pennsylvania Ataxia Support Group Meeting Monday, May 19, 2008 10-11:30 a.m. at Mercy Suburban Hospital, 2701 Mid-Missouri Ataxia Support Group Meeting Dekalb Pike Norristown, PA. Contact Liz Nussear 10 a.m. at the Daniel Boone Regional Library, (610) 277-7722 or [email protected]. www.ataxia. Columbus, MO. Contact Roger Cooley at (573) org/chapters/SEPennsylvania/default.aspx. 474-7232 before noon. www.ataxia.org/chapters/ Tampa Bay Ataxia Support Group Meeting RogerCooley/default.aspx. 1-3 p.m. at Feathersound Community Church, Tuesday, May 20, 2008 Clearwater, FL. Contact Chris Frohna at (813) 453- 1084 or [email protected]. www.ataxia.org/ Twin Cities Ataxia Support Group chapters/ TampaBay/default.aspx. 7 p.m. at Roseville Presbyterian Home (located off 35W on County Rd D). Contact Lenore H. Schultz at Sunday, May 11, 2008 (612) 724-3784 or [email protected]. www. Seattle Area Ataxia Support Group Meeting ataxia.org/chapters/OrangeCounty/default.aspx. 2-4 p.m. at Madison House Retirement Commu- nity, 12215 NE 128th St, Kirkland, WA. Speaker Saturday, June 14, 2008 Denver Area Ataxia Support Group Meeting 1-4 p.m. at the Swedish Hospital & Medical Conference Center (Room Spruce A), 501 East Hampden Ave., Englewood, CO. Contact Tom Sathre at [email protected] or (303) 794-6351. www.ataxia.org/chapters/Denver/default.aspx. Kansas City Area Ataxia Support Group 2-4 p.m. at the Northeast Library, 65 Wilson Ave., Kansas City, MO. Contact Lois Goodman Gen_0801_37-48.qxd:Layout 1 4/22/08 11:00 AM Page 45

Spring 2008 Generations Page 45 Ataxia Doesn’t Stop Her: Kayla Prather’s Story By Dianne Thigpen, Kayla’s grandmother, who when asked about Kayla, says “She is my hero!” Kayla is a typical 15-year old. She likes to shop, runner-up. Kayla enjoys the pageants because read the latest teen magazines, talk on the phone, they allow her to participate and compete with go to movies, and all the other carefree fun things girls her age, while building new friendships. It that teenage girls do. The one thing that sets also affords her the opportunity to create aware- Kayla apart from her friends and other teenagers ness about FRDA. She uses the time that she is that she has Friedreich’s ataxia (FRDA) and “walks” for the judges to share information uses a wheelchair. But she doesn’t let that stop about FRDA. her. She lives by a motto that states, “I can do This year – her last year in middle school and to anything that others do – I just have to do it her surprise – she won the People’s Choice differently!” award and was crowned Miss Jaguar. Kayla, an honor roll student, is a Words cannot express the joy and pride member of the Jaguar Journal, the year she felt. book staff and recently joined the Kayla has a dynamic personality and BETA Club. She volunteers to create a zest for life that inspires those who awareness about FRDA. She has se- know her. Even with her daily chal- cured signed proclamations from local lenges, Kayla stays positive and is city, county and state leaders for Inter- always willing to help others. She has national Ataxia Awareness Day, been been thinking about career choices featured in several newspaper articles, which include becoming a professional

and appeared in a local public service Photo by TCPICS fundraiser or a lawyer working with the announcement for the Make-A-Wish Kayla Prather physically challenged population and Foundation. Kayla has been a spokesperson and helping to enforce ADA requirements. helped raise funds for various ataxia organizations “Unless you have a disability, you don’t realize including NAF’s Greater Atlanta Ataxia Support how difficult seemingly simple things are for Group. those with disabilities,” says Kayla, “or even how Prior to being diagnosed with FRDA, Kayla difficult it is to just get down to the football field was a member of a competitive dance team to support your team.” Kayla wants to make a which won several first place trophies. She still difference and is determined to make her dreams has that competitive spirit today and has partici- become realities. pated in her school pageant. Kayla has been the Kayla shares with other young people who may only girl in the pageant with a physical disability. face challenges, “Never give up – your ambitions As a sixth-grader Kayla was named Most can take you places allowing you to change your Photogenic. The next year she placed second life or the lives of others.” O

(620) 223-1996 or Jim Clark clarkstone9348@ 35W on County Rd D). Contact Lenore H. Schultz at sbc global.net. www.ataxia.org/chapters/Kansas (612) 724-3784 or [email protected]. www. City/default.aspx. ataxia.org/chapters/OrangeCounty/default.aspx. North Texas Ataxia Support Group Meeting Saturday, June 21, 2008 10 a.m.- noon at Los Colinas Medical Center, 6800 MacArthur Blvd. at Hwy. 161, Irving, TX. Orange County Ataxia Support Group Meeting www.ataxia.org/chapters/NorthTexas/default.aspx. 1:30-4 p.m. Orange Coast Memorial Medical Center (in the basement, next to the cafeteria), Tuesday, June 17, 2008 9920 Talbert Ave., Fountain Valley, CA. Contact Twin Cities Ataxia Support Group Daniel Navar at [email protected]. www.ataxia.org/ 7 p.m. at Roseville Presbyterian Home (located off chapters/OrangeCounty/default.aspx. O Gen_0801_37-48.qxd:Layout 1 4/22/08 11:00 AM Page 46

Page 46 Generations Spring 2008 Memori als and In Your Honor The National Ataxia Foundation is grateful to those who have made contributions in memory or in honor of their friends and families whose names are listed below. This list reflects contributions made from November 2007 through March 2008. We are sorry that we cannot separate the memorial contributions from those made in honor of someone, as sometimes the person making the contribution does not let us know if the contribution is a memorial or in honor of their friend or family member. Heidi & Peter James Carr Jereme Drew June Hagan D. Kim Timothy Adkins Richard Carr Shari Dresselhaus Evelyn Hankins John Kingery Ralph Aiello Terry Carroll Sandy Dudzic Jimmy Hankins Robert Kirchner Alexander Family Jeremy Carter Ronald Eakins Mary Hansen Grace Kirkwood M/M A. Alibrio Christopher Casey Buzz Earnhart Anthony Hanson Jamie Kosieracki Michele Alioto Peter Castaneda Phil Earnhart George Happell M/M J. Kremzier Crystal Allsopp Gerarda Cellucci Mary Erickson Jean Happell Norman Labash Jackie Anderson Charles Charleston Daniel Eustache Donald Hareid M/M J. Laird Kathy Anderson Lucille Charleston Trinity Falk Mary Hartmann Dan Lane Linda Anderson Mary Charlton Connie Farmer Dynah Haubert Irene Lanzendorfer Constance Ashton Stephanie Matt Farrow James Hay Max Lanzendorfer Olga Azurdia Chartrand Verna Faulds Shirley Hayworth Peter Lanzendorfer Vicki Balogh Douglas Chin Betty Fears-Jones Lois Henrich Rodger Larsen Helen Barkhouse Quock Chin Charlie Fisher David Henry, Jr. Gerald Laukhuf Lenda Barth William Chwee M/M Fred Flory Marita Herbold Lorrie Laukhuf Maureen Jim Ciecierski Mark Frykman Carmela Herman Denise Laundy Bartlett-Carter JoAnn Ciecierski Mary Fuchs Ginger Hertzfeldt Chui Lee Dianne Bates Eugene Clark Ann Gallagher Greg Hess Linda Lee Dr. Luke Baxley Krista Clarke Gregson Gann Denise Higdon Christine Leslie Betty Beck Michael Clementz Rita Garcia Candace Bootsie Levick Clair Beck Patricia Clementz Bryan Gervais Hintermister Harriet Lewis Kay Bell Janice Cohen William Gill Johnny Hogan Richard Lewis Jennifer Bellini James Collins Garima Goel Bette Holmes June Liverman Patricia Benyo Joe Comes Tanya Goldman Jim Horne Hankins Jacqueline Lombard Eva Birdsong Les Cooley Penny Golminas Lois Hough Stephanie Lovelock Kim Bishop Verla Corby Donna Gorzela Louis Howe Homer Mace Stephanie Blake Emma Cornwell John Goshert Sammy Hubbard James Mace Fred Blasberg Joan Costello Joan Govan James Hughes M/M R. Macedonia Gary Blasius Lucile Covey Brenda Graner Vera Hughes Gordon Macklin Anetha Borup Shirley Cox Lawrence Graner Conrad Humphries Marylin Macklin Matthew Bouma Jack Cunningham Jacqueline Gray Lisa Jaffe Carly Magnuson Linda Bowen Carol Curtis Dick Gregory Rinda Janney Gregg Malkin John Boyd M/M D. Bagwell Larsen Gregory Kerry Johnson Kerry Manchester Hilda Braswell Marty Dail Richard Gregory Terry Johnson Rebecca Muriel Breland Charlene Danielson Alan Groben R. Jurasek Mandernach Jane Brewer Jeannette Davis Brian Groben Maureen Jurek David Marcy Jamie Brooks Kennon Davis David Groben Keiko Kain Deborah Markham Nancy Brooks Page Davis Nancy Groben Marvin Kamen John Marten Lynda Brother Raymond Davis Philip Groben Aura Kaye Sandra Martin Kyle Bryant Pamela Dawn Jackie Guercio William Keaveney Bruno Theodore Burdyl Diane Deniger Paschal Guercio Robert Keithly Mastroprimiano Barbara Call Marlene Dietrich Shikha Guha Amy Keller Marco M/M Edward Callis Constance Nicholas Gulde Pauline Kelly Mastroprimiano Evelyn Camacho DiVincentis Patty Gutierrez Regina Kelly Rhonda Sharon Cameron Fred Donnelly Bryan Hackett Thomas Kennedy Mastroprimiano Jimmy Campbell Joe Drake Wilbur Hackett M/M W. Kern Helen Mays Kenny Canter Monte Drew Gordon Hagan Maj. (Ret.) Young Darrin McCarty Gen_0801_37-48.qxd:Layout 1 4/22/08 11:00 AM Page 47

Spring 2008 Generations Page 47

A Special Thank You The National Ataxia Foundation would like to Nutrition for your donation of tote bags for this extend a special thank you to all the attendees, year’s meeting materials. speakers, facilitators, exhibitors and numerous The “Blazing A Trail In Research” meeting volunteers of the NAF 2008 “Blazing A Trail In had over 645 attendees! We appreciate your Research” Annual Membership Meeting held in participation in making this conference so Las Vegas, NV. successful. Thank you so much for the wealth The NAF would like to especially thank the of information and knowledge that was brought Arizona Ataxia Support Group for their efforts. It to the conference by all the speakers, facilita- was a pleasure working with Rita Garcia, Bart tors and exhibitors. The information and skills Beck, Mary Fuchs, and Mary-Lisa Orth on this taken away from this conference by the atten- meeting. dees is invaluable and worth more than any Many thanks to Charlotte DePew, who volun- words can say. teered as our on-site nurse this year; your Thank you to the Flamingo Hotel and the Las services are so much appreciated. Vegas CVB for their service and hospitality We would also like to thank this year’s spon- throughout this event. A special thank you is sors. Thank you Special Needs Vehicles for your also extended to NBC Channel 8 News–Las donation of the name badges. Thank you to Bulk Vegas for their media coverage.

Michaela McAlpine Irvin Parce N. Santa Croce Elizabeth Stueber Donald Walker Maury McDonald Katherine Parnham Marilyn Saunders Jody Stutchbury- Vinitha Weera- M/M J. McDonough Paula Partilla Josephina Raposo Sooriya Charley McLaughlin Julie Passarelli Schembre-McCabe Dee Sweeney Susan Weiler Earl McLaughlin Tyrell Pavelec Marcella Schifrin Wes Sweeney Albert Wester Emily Medina Linda Perkowski Jay Schlueter Ernie Talarico David Westrick Suzanne Merrill Jo Ann Peter David Schon Tiffinay Talarico- Michael Wheeler John Miller Michael Peter Marvin Schoon Compiano Pat Whiton Refiye Miller Jane Petticrew Yvette Scimone Roger Teske Charles Williams Linda Mitchel-May Rita Powell- Derek Semler Bernice Thierfelder Jeannette Wilson Diane Modaff Lobascio Sarah Shabaker Melva Tillett Linn Wilson Carl Moles David Price Col. Alexander Garrett Timbie Connie Wolff Minnie Molini Denise Shafer Mark Tokarz Wolfson Family Rose Montalbano Price-Dudley Hunter Shankle Mark Torvinen Alena Wolfson Dolores Morello Jan Primeaux Sherry Sharp Donna Triebes Alisa Wolfson Gary Morris Julie Quinlivan Breah Shepherd Dennis Trietsch Michael Wolfson Charles Murphy Scott Quinn Phyllis Siegel Eva Tritschler Donald Woods Rhett Myers John Rakshys Dianne Simao Margie Tseng Nicholas Woods Bruce Nanninga Charity Ranger Col. D. A. Bonnie Tucker Thomas Wootten Craig Nielsen Florence Rinaldi Slingerland Phil Turnbull Arthur Workley Chip Niles Jennifer Robinette Kelly Smillie Jay Underwood Clarence Workley John Norton Janice Robinson Robin Smith John Underwood Harry Workley Iris Nusbaum Nathan Robinson Windy Smith Bob Vande Brake Joanne Workley Leta O’Brien M/M R. Rocca Miriam Sommese M/M R. Van Horn Larry Workley Patricia O’Brien Don Roemke Marlene Stadille Leslie William Workley M/M W. O’Connell Ken Roemke Joey Staiger Van Iderstine Leona Yates Kathie O’Day Walter Roemke Joseph Staiger Derrick Veeder Jack Yobs Mary-Lisa Orth Rodney Rydeen Gert Stein Maria Vergilii Nathan Young Josh Ostby Mark Salvani Cathy Steward Mary Vida Ryan Young Darrell Owens Santa Croce Family Pearl Straub Marlea Waddell Pete Zarmakoupis Hanna Parce Donald Santa Croce Matthew Strop Dean Walker Hitomi Zeller O Gen_0801_37-48.qxd:Layout 1 4/22/08 11:00 AM Page 48

National Ataxia Foundation Non-Profit 2600 Fernbrook Lane, Suite 119 Organization Minneapolis, MN 55447-4752 U.S. Postage (763) 553-0020 PAID Madison, SD Permit No.32

Is your address correct? Are you receiving more than one issue of Generations? If there are any changes that need to be made, please call NAF at (763)553-0020 or e-mail [email protected]. Thank you!

GIFT – HONOR – MEMORIAL MEMBERSHIP

A contribution given in memory of a friend or Yes, I want to help fight ataxia! Enclosed is relative is a thoughtful and lasting tribute, as my membership donation, which enables NAF to are gifts to honor your friends or family. A continue to provide meaningful programs and Gift Membership is a wonderful gift to a friend services for ataxia families. (Gifts in US Dollars) K or relative for special occasions like birthdays, Lifetime membership $500 + graduations, anniversaries, and holidays. NAF Annual memberships: will acknowledge your gift without reference to K Patron membership $100-$499 the amount. K Professional membership $45 + K Simply fill out this form and mail with your check Individual $25 + K or credit card information to the National Ataxia Household $45 + K Foundation. Addresses outside the U.S. please add $15 Honor/Memorial envelopes are available free of Your Name ______charge by writing or calling NAF. Address ______My contribution is: K K K City/State/Zip ______In Memory In Honor Gift Membership E-Mail ______Name ______PAYMENT INFORMATION

Occasion ______Gifts are tax deductible under the fullest extent of the law. K Send Acknowledgment Card to: Check. Please make payable to the Name ______National Ataxia Foundation. Address ______Total Amount Enclosed $ ______K K City/State/Zip ______Credit Card: Visa Master Card Name on Card ______From: Card # ______Name ______Exp. Date______Address ______Signature ______City/State/Zip ______Phone Number ______