Ataxia Digest Digest The Johns Hopkins Ataxia Center: How to Become a Patient in Our Clinic AtaxiaNews from the Johns Digest Hopkins Ataxia Center 2018 Welcome to our Ataxia Center at Johns Hopkins! The first step in the process of becoming one of our patients is to have records sent to us. Please include 2015 Vol. 2 demographic information (so we know who to contact when we get the records), NewsLetter from the from Johns Hopkinsthe Director Ataxia Center 2018 neurology clinic notes within the past year, reports of your most recent MRI, lab results, and any genetic testing results. These notes can be faxed to 410-630-7900; Attn: Ataxia Center for review by one of our physicians. The decisions to accept The Ataxia Center at Johns Hopkins has continued to pursue its tripartite a patient into our clinic is based on our neurologist’s assessment of whether the Lettermission of clinical from care, theeducation Director and research. The ataxia medical home is patient would benefit from being seen by physicians and therapists with an expertise Thecentral Ataxia to that Center mission at Johns and continuesHopkins hasto thrive continu anded becometo pursue more its tripartiteembedded mission in of in neurodegenerative . Based on review of the clinical records, Ataxia Center clinical care, education of patients, family and healthcare professionals and research patients may also be scheduled with a physical therapist, occupational therapist, our practice. In addition to this multidisciplinary approach to the identification toand improve treatment treatments. of cerebellar As partataxia, of thethat Ataxia mission, Center the Centeralso serves has welcomedas a new facul- therapist, genetic counselor and for vestibular testing, neurocognitive testing, ty and staff, expanded outreach efforts, participated in a nationwide clinical trial and and/ or neuro-ophthalmology. Our center believes in a multidisciplinary approach to recognizing and treating cerebellar clearinghouse for information, and a way to get involved in scientific studies in continued to train fellows in the treatment of individuals with ataxia. ataxia. All of these appointments are geared towards diagnosing and providing treatment recommendations. Each appointment our quest to better understand and treat ataxia. As part of our clinical mission, provides a thorough work up and concentrated care to our patients. Jeethe Bang,Center M.D., has welcomed M.P.H., Ricardo Jee Bang, Roda, M.D., M.D., M.P.H. Ph.D., and two Ricardo neurologists Roda, andM.D., move- Ph.D., two neurologists and movement disorders specialists. When coming to your appointment day, please make sure to have a copy of the most recent MRI on a CD, and questions to ment disorders specialists, and Donna DeLeno Neuworth, Ataxia Health Educator, ask your physician. Before you leave the appointment please make sure you have all referrals, orders, prescriptions or refills have joined the Ataxia Center staff (please see next page for more information on placed for you. Immediately after the visit please make sure you call to get a follow-up appointment right away, since we tend theOur new education staff members). efforts have The also Ataxia expanded Center and also we welcomed added a full two time new ataxia fellows health who be- Liana Rosenthal, MD to book up quickly. We always look forward to assisting in your care! ganeducator their towork our in staff, the AtaxiaMs. Donna Center DeLeno in 2017 Neuworth. —Bonnie Kaas,With the M.D. addition and Suraj of Ms.Rajan, Liana S. Rosenthal, MD MSc.,DeLeno M.D. Neuworth, the Ataxia Center’s outreach program has grown and we have been ~ Carrie Berlett, Ataxia Clinic Coordinator able to offer more educational and social programs. We continued to offer our annual events such as the Ataxia Sailing With the addition of Ms. DeLeno Neuworth as a full-time Ataxia Health Educator, the Ataxia Center’s outreach Day, the Ataxia Holiday Party, and an Ataxia Wellness Day, and we were also able to offer educational programs and program has grown and we have been able to offer more educational and social programs. In addition to the Mailing Address Johns Hopkins at Green Spring Station annualsupport events groups such on emergencyas the Ataxia medical Sailing care, Day, physical the Ataxia therapy Holiday and ataxia,Party, and anclinical Ataxia trial Wellness readiness Day, and we research. were We 10751 Falls Road, Suite 250, Lutherville, MD 21093 ableare looking to offer forward educational to all programs the events and and support programs groups in the on upcoming emergency year medical and hope care, you physical will be therapy able to andjoin ataxiaus for andmany clinical of them trial (please readiness see the and listing research. of events We are on looking page 5 andforward 6). We to alsoall the continue events toand educate programs other in health the upcoming profesisonals Clinic Address Johns Hopkins Outpatient Center yearand weand welcomed hope you two will newbe able Fellows to join who us began for many their of work them in (please the Ataxia see theCenterlisting in 2017of events). —Bonnie Kaas, M.D. and 601 North Caroline Street, Suite 5064, Baltimore, MD 21287 Suraj Rajan, M.D., MSc. (please see page 9 for more information on the new staff members). The ataxia medical home continues to thrive and become more embedded in our practice. In addition to the Ataxia Coordinator Carrie Berlett, BS multidisciplinaryOur research also approach continues to to the grow identification as we forge and collaborations treatment of with cerebellar others atataxia Johns, the Hopkins Ataxia andCenter nationwide. also serve as Phone: 410-955-4894 aDuring clearinghouse this past for year, information, the Ataxia andCenter a way took to partget involvedin a clinical in scientific trial for peoplestudies with in our spinocerebellar quest to better understand to test and treat ataxia. During this past year the Ataxia Center took part in a clinical trial for people involving people Fax: 410-616-2810 a potential therapy for the treatment of neurodegenerative, neuropsychiatric and other challenges associated with [email protected] with spinocerebellar ataxias to test a potential therapy for the treatment of neurodegenerative, neuropsychiatric andataxia. other The challenges trial is still associated ongoing withand theataxia. Ataxia The Centertrial is continuesstill ongoing to andpursue the additional Ataxia Center research continues studies to to pursue expand our additionalunderstanding research of ataxia-related studies to expand symptoms our understanding and to identify of better ataxia-related treatments. symptoms and to identify better treat- Ataxia Digest Editor Donna DeLeno Neuworth, BA, Ataxia Health Educator ments. Phone: 410-616-2811 In 2018 the Ataxia Center will be celebrating its 10th year anniversary. We are deeply grateful to the Gordon and [email protected] InMarilyn 2018 theMacklin Ataxia Foundation, Center will bethe celebrating National Ataxia their 10thFoundation, year anniversary. and other We donors are deep wholy have grateful continually to the Gordon supported andour effortsMarilyn atMacklin the Johns Foundation Hopkins andAtaxia other Center donors to improve who have the continually health and supported well-being the of workindividuals of the Johnswith ataxia Hop- and kinstheir Ataxia families. Center and all of the outreach activities and programs. Sincerely, Please consider supporting our center! Sincerely, The work of the Johns Hopkins University Ataxia Center would not be possible without the generous support of the Gordon and Marilyn Macklin Foundation, the National Ataxia Foundation, our patients and the community.

Development Office 443-287-7877 For more information about the Ataxia Center please visit our website at For more information about supporting the center, please contact the at . https://www.hopkinsmedicine.org/neurology_neurosurgeryFor more information about the Ataxia Center please visit/centers_clinics/movement_di our website: sorders/ataxia/conditions/ https://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/movement_disorders/ataxia/conditions/

Ataxia Digest

2 Can GeneticAtaxia Testing Digest End My Diagnostic Odyssey? Weiyi Mu, ScM, CGC, Johns Hopkins University, Institute of Genetic Medicine Can Genetic Testing End My Diagnostic Odyssey? The road to a diagnosis is often long and weary. For many, there has been quite a journey before the word “ataxia” is even mentioned. This odyssey may involveWeiyi Mu, countless ScM, CGC, medical Johns Hopkins visits andUniversity, frustrating Institute misdiagnoses. of Genetic Medicine After reaching this point, however, you may realize that ataxia is a diagnosis The road to a diagnosis is often long and weary. For many, there has been quite a journey with many differentbefore the causes. word “ataxia” Some is peopleeven mentioned. with ataxia This odyssey have anmay autoimmuneinvolve countless medical disease or vitaminvisits anddeficiencies; frustrating misdiagnoses. some have family members with a specific type of . Yet others are “idiopathic” mysteries even af- After reaching this point, however, you may realize that ataxia is a diagnosis with many ter years of testing.different causes. Some people with ataxia have an or vitamin If you are in thedeficiencies; “undiagnosed” some have categfamilyory members of ataxia, with a specificyou may type be of presentedspinocerebellar ataxia. Yet with genetic testingothers areas “idiopathic”an option. mysteries Genetic even testing after years has of testing.come a long way since 1993, the year Ifthe you gene are in forthe “undiagnosed”spinocerebellar category ataxia of ataxia, type you 1 maywas be first presented located. with geneticTo- day, there are hundredstesting as an ofoption. genes Genetic linked testing to hasataxia. come a long way since 1993, the year the gene for spinocerebellar ataxia type 1 was first located. Today, there are hundreds of genes Rumors aboundlinked with to ataxia.genetic testing. The information is complicated, and changes year toRumors year. abound It can with be geneticdifficult testing. to stayThe informationafloat of allis complicated, the updates. and changesHere are some four yearcommon to year. Itmisconceptions can be difficult to aboutstay afloat genetic of all thetesting. updates. Below are four common misconceptions about genetic testing. Source: globalgenes.orgSource: globalgenes.org

MYTH 1: Genetic testing does not change anything about my case of ataxia. FACT: This dependsMYTH on each 1: Genetic person. testing It does is true not changethat ther e is not a wayuncertain. to “fix” Other a times, non-functional tests such as whole ataxia exome gene. Your day to day treatmentanything about may my not case change. of ataxia. However, a genetic diagnosissequencing can may provide reveal information a more aboutspecific other progno- health risks, such as hereditary cancers. You can sis, accurate risk predictionFACT: This for depends your childrenon each person. and It grandc is true thathildren, and in some cases, more effective therapies speak with a genetic counselor to learn about what that work for yourthere type is ofnot ataxia.a way to “fix” a non-functional ataxia the testing may reveal, before deciding to have your gene. Your day to day treatment may not change. blood drawn. It is important to keep in mind that However, a genetic diagnosis can provide a more despite the latest advancements, we still do not know MYTH 2: If the geneticspecific testprognosis, is “normal,” accurate risk th predictionen my casefor your ataxia is not genetic. every gene for ataxia. The majority of people with FACT: This is notchildren necessarily and grandchildren, true. There and are in some many cases, different more types of genetic tests. Some test just one ataxia likely genetic ataxia remain undiagnosed. It may help effective therapies that work for your type of ataxia. gene; some test dozens of genes. Some tests, such as whole exometo sequencing, know that you lookare not at alone, almost and thatall knownresearchers genes at once, but cannot detect certain types of gene changes. Ask your arehealthcare working hard providers to uncover tomore find causes out and what the best testing strategyMYTH is for you.2: If the genetic test is “normal,” then my treatments. If you are undiagnosed, check back with case of ataxia is not genetic. your ataxia neurologist and genetic counselor. There FACT: This is not necessarily true. There are many are still more questions to be answered, and it is our MYTH 3: Geneticdifferent testing types always of genetic provides tests. Some defi testnitive, just one“yes” or “no”privilege answers. to be part of your journey. FACT: Sometimes,ataxia genetic gene; sometesting test dozenscan lead of genes. to more Some tests,questions than answers. Results may be uncertain. Other times, tests such assuch whole as whole exome exome sequencing sequencing, look may at almostreveal all information MYTH about 4 other: Genetic heal testingth risks,is too expensive. such as heredi- known genes at once, but cannot detect certain types Insurance will not cover it. tary cancers. You canof gene speak changes. with Ask a your genetic healthcare counselor providers to to learn about what the testing may reveal, before decid- FACT: The era of the $20,000 genetic test is over. ing to have your bloodfind out drawn. what the It best is testingimportant strategy to is forkeep you. in mind that despite the latest advancements, we still do Most genetic tests are in the $100s to low $1000s not know every gene for ataxia. The majority of people with likely range.genetic More ataxia insurances remain are covering undiagnosed. genetic testing It may help to know that MYTHyou are 3not: Genetic alone, testing and always that providesresearch ers are workingthan hardbefore. to If youruncover insurance more did notcauses cover andgenetic treat- ments. If you are undiagnosed,definitive, “yes” orcheck “no” answers. back with your ataxia neurologisttesting anda few geneticyears ago, counselor.it may be worth There it to check are still more questions to FACTbe answered,: Sometimes, and genetic it is testingour privilege can lead to to be part ofagain. your Some journey. genetic testing companies also offer more questions than answers. Results may be discount payment plans. MYTH 4: Genetic testing is too expensive. Insurance will not cover it. FACT: The era of the $20,000 genetic test is over. Most genetic tests are in the $100s to low $1000s range. More insurances are covering genetic testing than before. If your insurance didn’t cover genetic testing a few years ago, it may be worth it to check again. Some genetic testing companies also offer discount payment plans. 3 Ataxia Digest

Cognition, the and Cerebellar Ataxia

Cherie Marvel, PhD, Associate Professor, Neurology and

For the past several years, we have been working to identify cognitive and emotional changes associated with cerebellar ataxia. There are no standardized or widely used diagnostic tests currently available to measure cerebellar-related non- motor function. Therefore, we have taken a two-prong approach to our research: 1) design and administer a battery of tests aimed to assess cerebellar cognitive abilities, and 2) conduct interviews with the patients and families to gather data about symptom severity and progression. Cerebrum In terms of cognition, we are finding that cerebellar ataxia impacts three areas: 1) patient’s ability to create Medulla Cerebellum an efficient, step by step approach to managing a new ( Stem) situation. This may interfere with daily tasks of planning and problem solving; 2) word finding difficulties also Source: Creative Commons Attribution 2.5 License 2006 increase with the onset of ataxia, and this is distinct from cerebellar-related speech changes. Patients may instead use negatively impact interpersonal relationships, marital a less precise word than intended and experience difficulty relations, and coping strategies. Because of this, we getting their point across and 3) short-term memory may consider this avenue of research a priority for future studies also be affected, with patients experiencing more problems in cerebellar ataxia. remembering appointments, needing lists and reminders, forgetting what has been said in conversations and As we learn more about changes in cognition and emotion misplacing objects. associated with the progression of cerebellar ataxia, we will be in a better position to improve education for patients In terms of emotions, our data indicate an ataxia-related and families, as well as to continue on our path towards increase in depressive and anxious mood symptoms. A developing new treatments. decrease in emotional regulation can lead to feelings of frustration and irritability that are expressed as angry For more information about a research study at Johns outbursts, followed by a rapid return to usual behavior. Hopkins involving cognition and emotion, please refer to Importantly, these emotional changes can the research section of this newsletter on page 8.

Dr. Cherie Marvel received her Ph.D. in Neuroscience from Georgetown University in Washington, DC in 2002. Her dissertation research examined cerebellar-related cognitive and motor deficits in schizophrenia. She completed her first postdoctoral fellowship in Clinical Neuroscience at the University of Iowa, where she furthered her training in cerebellar cognitive function in psychiatric disorders. She completed her second post- doctoral fellowship in Cognitive Neuroscience at Johns Hopkins University, where she learned to use brain imaging methods (such as functional MRI) to examine cognition.

Now an Associate Professor of Neurology and Psychiatry & Behavioral Sciences at Johns Hopkins, Dr. Marvel’s research focuses on the interaction between cognitive and motor systems, with special emphasis on the cerebellum, in healthy and clinical populations. 4 Ataxia Digest

Multiple System Atrophy (MSA)

Jee Bang, MD, MPH, Clinical Director, Johns Hopkins Huntington Disease Center of Excellence

MSA is a degenerative neurological disease which can system (which controls automatic regulatory functions in look similar to either Parkinson disease or cerebellar the body such as blood pressure, bladder function, and ataxia, depending on the type. One type is called MSA-C, temperature regulation). In fact, patients with MSA often where the C refers to cerebellar symptoms, and the other present with changes in their autonomic functions, before type is called MSA-P, where the P refers to Parkinsonism the motor changes occur. For example, a patient may (Parkinson disease-like symptoms). A patient with MSA develop loss of bladder control (and/or erectile dysfunction may present with mixed features of both MSA-C and in men) or dizziness upon standing or sitting up with no MSA-P. other changes in their or movement. They may also develop sleep abnormalities, such as acting out what they As the name implies, MSA affects multiple different areas are dreaming while asleep (called REM behavior disorder, of the brain, including the cerebellum (which controls or RBD) or difficulty breathing (sleep apnea). Months or balance and coordination) and the autonomic nervous even years later, movement changes may follow.

MSA-P MSA-C Patients with MSA-P can experience similar Patients with MSA-C can experience imbalance, symptoms as patients with Parkinson disease (PD). slurred speech, clumsiness, double vision, difficulty For example, they may have , slowness swallowing, or a sensation that the objects they see of movement, muscle rigidity or stiffness, or appear to be jumping around because their eyes imbalance. However, unlike PD, those symptoms are constantly bouncing. MSA-C is different from are often rapidly progressive. Levodopa, a other diseases that cause ataxia by the fact that it medication used to treat PD, can lead to some is often preceded or accompanied by autonomic symptom improvement in MSA. However, the dysfunction. effectiveness of this medication is small, does not last as long as it does for PD, or simply may not be effective in MSA.

Diagnosis There is no single definitive test to diagnose MSA. Clinicians use the history, the timeline of symptoms, including blood pressure measurements in the lying down and standing up positions, brain imaging, and lab tests (including additional autonomic function tests to make the diagnosis). Treatment There is currently no medication to stop or slow down the progression of MSA. However, there are multiple medications and non-medical interventions to treat the symptoms of MSA and improve the quality of life. Levodopa, as mentioned above, may help some MSA patients by improving tremors, slowness of movement, muscle rigidity or stiffness, or imbalance. Several medications are available to improve the blood pressure drop with position changes (called ). Sleep treatments are also available to treat RBD and sleep apnea. Regular physical, occupational, and speech therapies are helpful in maintaining the level of function (strength, flexibility, balance) as long as possible. Unfortunately, patients with MSA tend to have a shorter lifespan compared to patients with PD or slowly degenerative genetic ataxias. More research studies to understand the disease process, and how to treat the disease, are underway. 5 Ataxia Digest

Meet the Ataxia Ambassadors

If you have attended an ataxia event this past year, chances are you have met some of the Ataxia Ambassadors, who have been volunteering their help at the center and with events for several years.

The Ataxia Ambassadors Club is a large group of undergraduate students from Johns Hopkins University who are committed to helping individuals with ataxia and their care partners through outreach, education and fundraising activities to support both the Johns Hopkins Ataxia Center and the National Ataxia Foundation.

Many of the students are pre-medical students, neuroscience or bioengineering majors who want to In addition to helping at all the Mid-Atlantic Ataxia Social improve the lives of people with ataxia by developing Events, the Ataxia Ambassadors host an annual event on improved technology, tools and research. They observe campus – Arts for Ataxia – where performing arts student the ataxia neurologists and other clinicians at the monthly groups, including a cappella group, cultural dance, string Johns Hopkins Ataxia Center Clinic and are very engaged and instrumental music, perform for people in the Johns and interested in learning all they can about ataxia. It is Hopkins Mid-Atlantic Ataxia Social Group. very encouraging to see so many students devoting their time and college studies towards improving the quality of life for people living with ataxia.

Ataxia Events Ataxia Sailing Day

The weather was perfect for the third annual Ataxia Sailing Day which took place on June 10, 2017. The Downtown Sailing Center (DSC) again graciously hosted the Ataxia Center and provided accessible sailing for people with ataxia and their families in the Inner Harbor. It was a day of fun, followed by a fundraising raffle for the Ataxia Center at the Little Havana restaurant with good food and comradery. The Downtown Sailing Association is a non-profit organization that provides the community with affordable and accessible quality sailing programs and events. The Downtown Sailing Association provides education in sailing for all skill levels, ages and abilities. Saturday, June 9, 2018 is the next Ataxia Sailing Day. We hope you can join in the fun! 6 Ataxia Digest

Ataxia Programs and Events

The Ataxia Center hosted several programs throughout the year. In December 2016, over 55 people attended the annual holiday party in Baltimore, coming from West Virginia, Pennsylvania, District of Columbia, and Maryland. The participants received a presentation on emergency medical assistance by Dr. Liana Rosenthal, Johns Hopkins Ataxia Center Director, and Mary Blake, Director of Quality and Risk Management, from the League of , at the Howard County Medical Center.

During Ataxia Wellness Day on April 29, 2017 care partners and people with ataxia enjoyed lunch, seated Holiday Party Fun 2016 massage and chair yoga. Dr. Cherie Marvel from the Ataxia Center also delivered a presentation on cognition and The annual ataxia holiday party was on December 2nd at ataxia. In June we sailed with the Downtown Sailing the BWI Marriott Hotel which is always a fun event with Center and in September we hosted a joint event with the good food and conversation. Chesapeake Chapter of the National Ataxia Foundation on ataxia research.

Upcoming Events, Support Groups and Educational Programs in 2018

We have many great events planned for 2018. If you would like to keep updated on upcoming events and programs, and receive our e-newsletter and other announcements, please contact Donna DeLeno Neuworth, Health Educator, at [email protected] or 410-616-2811. Saturday, February 24, 2018: Ataxia Genetics: From Basic Principles to Newest Updates, Towson, Maryland Weiyi Mu, ScM, CGC, Genetic Counselor at Johns Hopkins University, Institute of Genetic Medicine and the Johns Hopkins Ataxia Center will be presenting information on ataxia genetics followed by a Q & A session. Saturday, April 14, 2018: Ask the Lawyer, Ask the Doctor, Columbia, Maryland A program that includes presentations and a large Q & A segment on various topics on cerebellar ataxia, estate planning, advance directives, living wills, trusts and benefits including applications and appeals. Presenters include Liana Rosenthal, MD, Director, Ataxia Center; Director, Clinical Core of the Morris K. Udall Centers of Excellence for Parkinson’s Disease Research and Assistant Professor of Neurology; Mary E. O’Byrne, Esq., O’Byrne Law, LLC, Lutherville, MD and Richard Neuworth, Esq., attorney at Lebau & Neuworth, Towson, MD. Saturday, June 9, 2018 : Ataxia Sailing Day, Baltimore, Maryland The fourth annual Ataxia Sailing Day at the Downtown Sailing Association (DSC) http://www.downtownsailing.org/. No sailing experience necessary. The DSC provides a safe and fun experience for children and adults with ataxia. See their website for more information. After sailing, enjoy appetizers and a raffle with great prizes at a nearby restaurant. Registration will be open soon for this popular event!

Other upcoming Ataxia Center events for 2018 in the planning include: Caring for the Caregiver Retreat, Traveling with a Disability, a 10th Anniversary Celebration of the Johns Hopkins University Ataxia Center and more! 7 Ataxia Digest

Tips for People with Ataxia and Care Partners

When Should I Call My Healthcare Provider? Symptoms and time of onset may vary according to the type of ataxia. Each person may experience symptoms differently. Contact your provider if you have any symptoms such as:

• Balance and coordination problems • Wide-based gait (manner of walking) • Lack of coordination in hands, arms, or legs • Difficulty with writing and eating • Slurring of speech • Slow eye movements

Key Points About Ataxia • People diagnosed with ataxia lose muscle control in deficiencies, chronic exposure to certain drugs, multiple their arms and legs, which may lead to a lack of balance, ­sclerosis, and other disorders. coordination, and trouble walking. Typically the most common symptoms of ataxia include: • Ataxia may affect the fingers, hands, arms, legs, body, - Balance and coordination are affected first speech, and even eye movements. - Poor coordination of hands, arms, and legs • Certain injuries or illnesses can cause ataxia to appear - Slurring of speech suddenly, such as , , brain hemorrhage, infections, exposure to certain drugs, or if breathing or - Difficulty with writing and eating the heart stops. - Slow eye movements • Some conditions can cause ataxia to appear gradually, such as , abuse, certain vitamin

Tips to Help You Get the Most from a Visit to Your Healthcare Provider • Know the reason for your visit and what you want to • Ask if your condition can be treated in other ways. happen. • Know why a test or procedure is recommended and • Before your visit, write down questions you want what the results could mean. answered. • Know what to expect if you do not take the medicine or • Bring someone with you to help you ask questions and have the test or procedure. remember what your provider tells you. • If you have a follow-up appointment, write down the • At the visit, write down the name of a new diagnosis, date, time, and purpose for that visit. and any new medicines, treatments, or tests. Also write • Know how you can contact your provider if you have down any new instructions your provider gives you. questions. • Know why a new medicine or treatment is prescribed, and how it will help you. Also know what the side effects are.

Source: Johns Hopkins University Ataxia Center Ataxia Center 8 Ataxia Digest

Johns Hopkins Ataxia Research Studies

Principle Condition Title Objective Eligibility Contact Investigator

To gain a better Ataxic Movements understanding of how SCA 6, *18-85 Amy Bastian, PhD Ataxiastudies@ Study at Kennedy the cerebellum SCA 8 years old NA_00043851 kennedykrieger.org Krieger Institute works and evaluate behavioral therapies

To gain a better understanding of the Diagnosis of Assessment of Non impact of cerebellar *18-75 Cherie Marvel, PhD Dr. Cherie Marvel, cerebellar -motor Functions ataxia on cognition years old NA_00076574 [email protected] ataxia in Cerebellar Ataxia and emotional regulation

To gain a better understanding of the John Krakauer, MD Diagnosis of and Control in role of the cerebellum *18-85 and cerebellar [email protected] Cerebellar in learning and years old Adrian Haith, PhD ataxia Ataxia controlling skilled IRB 00036195 actions

To gain a better *Presence of understanding of Natural History symptoms and progression rates of Chiadi Oniyike, MD Ann Fishman, Research Study of Genetic signs of ataxia SCA SCA and discover and Coordinator Modifiers in 1,2,3,6,7,8,10 genetic modifiers that *Positive genetic Liana Rosenthal, MD [email protected] or Spinocerebellar influence the age of testing either in NA_00034854 410-502-5816 Ataxia onset and the clinical participant or characteristics family

Gulin Oz, MD, To gain a better University understanding and *those with of Minnesota, IRB Magnetic Diane Hutter, RN, evaluate the early or 0502m67488; Resonance 612-625-2340 or SCA 2,3 differences between pre-symptomatic Peter Barker, D. Spectroscopy people with ataxia and ataxia symptoms Phil and Chiadi Ann Fishman, in Ataxia healthy controls with (for 3 Tesla MRI) Oniyike, MD, Johns 410-502-5816 no known ataxia Hopkins University, NA_00034854

Other Research Resources Clinicaltrials.gov ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies of human participants conducted around the world. Connecting Organizations for Regional Disease Surveillance (CORDS) http://www.cordsnetwork.org Non-Governmental Organization comprised of six international networks, working to reduce and prevent the spread of infectious diseases by exchanging information between surveillance systems globally. National Ataxia Foundation http://www.ataxia.org/ Dedicated to improving the lives of people affected by ataxia through support, education and research. Friedreich’s Ataxia Research Alliance (FARA) http://www.curefa.org/index.php The Friedreich’s Ataxia Research Alliance (FARA) is a national, public, 501(c)(3), non-profit, tax-exempt organization dedicated to the pursuit of scientific research leading to treatments and a cure for Friedreich’s ataxia. 9 Ataxia Digest

Meet the New Johns Hopkins Ataxia Center Staff Members

Jee Bang, M.D., M.P.H., joined the Ataxia Center in July 2016. She is an Assistant Professor of Neurology and also serves as the Clinical Director of the Johns Hopkins Huntington’s Disease Center of Excellence. Dr. Bang, in addition to caring for patients with ataxia, also cares for people with disorders of cognition and movement, Huntington’s disease, progressive supranuclear palsy, corticobasal degeneration, , with Lewy bodies, frontotemporal dementia, and Alzheimer disease. Dr. Bang trained in neurology at Johns Hopkins and completed further study in behavioral neurology at the University of California, San Francisco.

Dr. Ricardo Roda, M.D., Ph.D., is the newest edition to our team, joining the Ataxia Center in the fall of 2017. He earned a combined MD/PhD degree from University of Rochester and completed an adult neurology residency, followed by a clinical neuromuscular fellowship at Johns Hopkins University School of Medicine. During his residency, Dr. Roda developed a special interest in both auto-immune and genetic disorders. Following his residency, he spent three years in the neurogenetics branch of National Institute of Neurological Disorders and Stroke (NINDS) working with Dr. Craig Blackstone, focusing on the use of the newer DNA sequencing techniques in genetic diagnosis, and in establishing genotype/phenotype correlations for neuromuscular disorders, as well as treating patients with ataxia. His current clinical interests include developing testing strategies for undiagnosed genetic disorders and myasthenia gravis.

Donna DeLeno Neuworth, B.A., has been with the Johns Hopkins Ataxia Center as the full-time Health Educator since October 2016. Donna came to the Ataxia Center from the Johns Hopkins University MIND at Home (Maximizing Independence at Home) research study that is designed to help keep people with dementia living safely in their own homes. Previously, Donna worked in the aging and disability field for over 15 years as an advocate and public policy staff director for several aging organizations. She enjoys working with people with ataxia and their care partners, and will be working on expanding the Ataxia Center’s reach to people with ataxia and care partners in the Mid-Atlantic region. The outreach includes developing educational and social programs, creating and distributing the print and e-newsletters and providing resourceful information to patients and care partners. She also assists the Ataxia Center with fundraising events. 10 Ataxia Digest

Meet the Johns Hopkins Ataxia Advisory Board Members

John Cernosek, a certified personal trainer, has always had a passion for sports and fitness and continues to swim several times a week, in addition to doing many other fitness activities. He graduated from Saint Joseph’s University in 2005 and worked at a center for independent living as a benefits counselor. John was diagnosed with Friedreich’s Ataxia in 2003. He has been volunteering with the Johns Hopkins Ataxia Center and the Friedreich’s Ataxia Research Alliance for several years, focusing on ways people with ataxia can help themselves. Currently, John works with Dr. Tom Clouse, a general surgeon who was diagnosed with ataxia in 1997. John is assisting Dr. Clouse with starting the company Reclaiming Natural Movement. Dr. Clouse and John have developed a method of training for people with ataxia and other movement disorders to improve their movement.

Aaron A. Nichols, Esq. is currently is an Associate Attorney at Whiteford, Taylor & Preston, LLP. Aaron represents clients in a broad range of business and commercial disputes. His practice focuses on complex litigation, including antitrust and trade regulation cases, class action lawsuits and insurance coverage and defense litigation. In his free time, Aaron enjoys playing golf and volleyball. Aaron joined the ataxia board in 2014. His father was diagnosed with ataxia in the early 2000s. Aaron hopes to help the Ataxia Center raise funds and awareness to further treatment options for those living with ataxia.

Libby Sullivan works as a government secretary for SAMHSA (Substance Abuse and Mental Health Services Administration), a position she has held for seven years. She accepted the invitation to join the Ataxia Advisory Board in November 2017. She was diagnosed with SCA8 in 2007. Libby said she likes to think of ataxia “as an invisible disability, so others do not realize you have anything wrong until you start to move.” Libby added she is very excited to have a platform to be able to educate others about having ataxia. Libby enjoys keeping busy, and her hobbies include: needlework, entertaining and playing games - especially backgammon. Reading and discussing books is an important part of her life so she and a school friend started a book club that has lasted for over ten years. Ataxia is also an important part of her life, but she said it does not define her.

Brian P. “Sully” Sullivan is the owner and Principal at Knowlegiate, LLC, a web and application development studio. He and his wife Libby have been married for 18 years and live in Rockville, Maryland. They enjoy travel, movies, entertaining at home, and spending time with friends. Together, they joined the Mid-Atlantic Ataxia Social Group in October 2012, a few years after Libby’s diagnosis of SCA8. Sully is particularly interested in ways to make our community’s support gatherings as useful and effective as possible, and also in creating and collecting resources and information to share with individuals with ataxia and caregivers that make living with disabilities easier. 11 Ataxia Digest

Meet the Johns Hopkins Ataxia Advisory Board Members

Ed Dizon is currently a Strategic Planner at Northrop Grumman, but plans on retiring in early 2018. He enjoys fishing, exercising, being a “do it yourselfer”, and traveling. Ed joined the Ataxia Support Group in March of 2013, shortly after his wife Dawn passed away. Dawn had SCA1 and throughout their 20 year marriage Ed learned a lot about the physical, emotional and spiritual aspects of caregiving during that time. As an Ataxia Advisory Board member, he wants to share his experiences and lessons-learned with the group. Ed’s goals for the board and overall group include: helping patients and care partners enjoy life to the fullest by balancing short and long-term goals, retaining members while also focusing on recruitment, and providing more resources such as “how to” guides, accessibility aides and transportation to and from events.

Shirley McMonigle currently works as a Program Manager at the National Security Agency (NSA). She has worked at NSA and lived in Maryland for 32 years. She is originally from Indiana, moving here upon college graduation to work for the NSA. Shirley’s maternal family is related to President Abraham Lincoln and in 2016 she was diagnosed with the rare SCA 5, as some of President Lincoln’s family members also had SCA 5. With four other siblings, so far, she is the only one who has ataxia symptoms. As rare as SCA 5 is though, many symptoms are the same as other ataxias. As a patient-advocate, Shirley is very concerned with improving and maintaining a good quality of life. Her hobbies now are much simpler than they used to be, but she still enjoys traveling and just this past summer she went on an African Safari to Tanzania. She is looking forward to working with this group of dedicated volunteers and is thankful to be associated with the ataxia community.

Paula Gill has a Bachelor’s of Science degree from Park University and is a senior manager with the Department of Defense. In addition to serving on the Ataxia Advisory Board, she also serves on the American Legion Post 171 Executive Board in Damascus, Maryland. Paula’s husband Shawn was diagnosed with ataxia of unknown origin in 2012 . Paula has been involved with the Ataxia Center and Advisory Board since 2015. Paula’s goals for the Ataxia Network are to help people, fundraise for the Ataxia Center and to promote awareness of the disease. Paula believes the Ataxia Network group fosters a sense of community and acceptance. Paula and Shawn are both Air Force veterans, and like most people approaching retirement, Paula said they were anticipating traveling together in Europe, but ataxia threw them both a real curve ball. “The plans are still there, however, now will require a bit of tweaking!” Ataxia Digest

The Johns Hopkins Ataxia Center: How to Become a Patient in Our Clinic

Welcome to our Ataxia Center at Johns Hopkins! The first step in the process of becoming one of our patients is to have neurology records sent to us. Please include demographic information (so we know who to contact when we get the records), neurology clinic notes within the past year, reports of your most recent MRI, lab results, and any genetic testing results. These notes can be faxed to410-630-7900; Attn: Ataxia Center for review by one of our physicians. The decisions to accept a patient into our clinic is based on our neurologist’s assessment of whether the patient would benefit from being seen by physicians and therapists with an expertise in neurodegenerative cerebellar ataxia. Based on review of the clinical records, Ataxia Center patients may also be scheduled with a physical therapist, occupational therapist, speech therapist, genetic counselor and for vestibular testing, neurocognitive testing, and/ or neuro-ophthalmology. Our center believes in a multidisciplinary approach to recognizing and treating cerebellar ataxia. All of these appointments are geared towards diagnosing and providing treatment recommendations. Each appointment provides a thorough work up and concentrated care to our patients.

When coming to your appointment day, please make sure to have a copy of the most recent MRI on a CD, and questions to ask your physician. Before you leave the appointment please make sure you have all referrals, orders, prescriptions or refills placed for you. Immediately after the visit please make sure you call to get a follow-up appointment right away, since we tend to book up quickly. We always look forward to assisting in your care! ~ Carrie Berlett, Ataxia Clinic Coordinator

Mailing Address Johns Hopkins at Green Spring Station 10751 Falls Road, Suite 250, Lutherville, MD 21093

Clinic Address Johns Hopkins Outpatient Center 601 North Caroline Street, Suite 5064, Baltimore, MD 21287

Ataxia Coordinator Carrie Berlett, BS Phone: 410-955-4894 Fax: 410-616-2810 [email protected]

Ataxia Digest Editor Donna DeLeno Neuworth, BA, Ataxia Health Educator Phone: 410-616-2811 [email protected]

Please consider supporting our center! The work of the Johns Hopkins University Ataxia Center would not be possible without the generous support of the Gordon and Marilyn Macklin Foundation, the National Ataxia Foundation, our patients and the community.

For more information about supporting the center, please contact the Development Officeat 443-287-7877.