Ge neratio ns

The Official Publication of the National Ataxia Foundation Volume 35, Number 2 Summer 2007 Ata xia Resea rch Review

By Harry Orr, PhD Dr. Harry Orr is a full professor for the Department of Laboratory Medicine and Pathology at the University of Minnesota Medical School. Dr. Orr received a BA degree from Oakland University in Rochester, Michigan. He earned his P hD at Washington University and completed a graduate fellowship at Harvard. He is the Director of the Institute for Human Genetics and holds the Tulloch Chair in Genetics. Dr. Orr is known as the researcher who, along with Dr. Huda Zoghbi, found the first gene for ataxia, now known as SCA1. His research is focused on molecular neurogenetics and he is a published author of more than 120 articles, many on the genetics of ataxia. Dr. Orr was appointed the National Ataxia Foundation’s Research Director on June 14, 2006. The following was presented at the 2007 NAF Annual Membership Meeting in Memphis, Tennessee.

I have two major goals in this short talk this that the goal here is a treatment or cure for ataxia. morning. One is as Director of Research for the Of course, it needs to be stated that the founda - National Ataxia Foundation: I want to give you tion of this effort is you, the patients and families an overview of ataxia research from the perspec - with ataxia. tive of the meeting today. Clearly, my colleagues Now just a few specific words about the that are coming up after me, after the break, will different types of research. We start with basic give you a much more detailed perspective of a research. This is where we try to find in the lot of the exciting research that is going on in research laboratory the cause of ataxia. What we ataxia. Besides being the Director of Research are looking for, as researchers, are the cellular and for the National Ataxia Foundation, I also head biochemical pathways that are altered as a result up a lab that does research on ataxia, specifically, of the disease. From this information, still in the SCA1, so I thought I would take a moment research lab, we move towards what we call towards the end of the talk to give you a few preclinical research. This is where we test ideas words about where we stand in terms of SCA1. for therapies and largely we test these in model We view research as the bridge to hope. On systems of the disease and we rely very heavily one side of the bridge, the left hand side, we have on the use of animal models. In my own lab we two major classifications of research starting out rely exclusively on the use of a mouse model of with basic research and moving to pre-clinical the disease that we study. There are two types of research. As we move across the bridge we move into clinical trials, and obviously we all are aware Continued on page 3 Page 2 Generations Summer 2007

Please direct correspondence to: Gen erations Staf f: 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) 55 3- 0020 Mike Parent ...... Executive Director FAX: (763) 55 3- 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 2007 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 what - soever for the use or contents of any product or service mentioned in the newsletter.

Table of Conten ts Annual Membership Meeting Articles (cont.) Ataxia Research Review ...... 1 Stock Talk ...... 42 Experimental Therapeutics for New NAF Research Program for FA ...... 45 Friedreich’s Ataxia ...... 7 International Ataxia Awareness Day ...... 46 Other Movement Disorders in Shopping on the Web ...... 47 Patients with Ataxia ...... 16 Photographs ...... 24-26 Research Summaries Blazing a Trail in Researc h: How Does the Normal Function of 2008 Annual Membership Meeting ...... 27 Ataxin-3 Affect Its Fate in Cells? ...... 32 Characterization of Frataxin’s Articles Function in the Stress Response: NAF Giving Options Abound ...... 6 Taking Advantage of C. Elgans Model ...... 34 From the Desk of the Executive Director ...... 13 Membership Topics Caregiver’s Corner ...... 14 NAF Merchandise ...... 33 Taking Care of Yourself: Chapter and Support Group News ...... 36 Good Nutrition is Essential and Easy ...... 15 NAF Chapters and Support Groups ...... 38 Generations Word Find ...... 20 Ambassador Listing ...... 41 American Academy of Neurology Conference a Huge Success ...... 22 Calendar of Events ...... 43 Designate Your Research Dollars ...... 22 Memorials and In Your Honor ...... 47 Family Fund Raisers ...... 22 Personal Stories and Poems Thank You Athena! ...... 29 Murphy’s Gramma ...... 12 Featured Board Member I’m Living with Ataxia: of the NAF: Camille Daglio ...... 30 the Sneak Thief of Life ...... 23 A Special Thank You to Dr. Susan Perlman ... 31 My Group ...... 39 Attention Government Workers ...... 32 Summer 2007 Generations Page 3

Ataxia Research Review sporadic ataxias and inherited ataxias. We all Continued from page 1 know that if we have a sporadic ataxia, your children are at no increased risk for developing tests that we do in the lab. One test is what we ataxia. Whereas if you have an inherited form of call a proof of principle and this is where we use ataxia, you have gotten the mutated gene from a strategy where we are basically asking the one or both of your parents and if you have question, if we were able to alter this function, children they are also at risk for inheriting this and typically we are using a strategy that we can mutant gene. In the research arena, we focus only use in the research lab, but if we alter this a lot of our attention on the inherited or the function is it a benefit in the disease model. The genetic forms of ataxia. Often it is hard to second, and perhaps more important type of understand why we focus so much attention in preclinical research, is where we are using an our research on these forms of ataxia and less so approach that we think has the possibility of on the sporadic ataxias which, if anything, are being applied to humans. And so, again does this more frequent than the genetic forms. The approach have a positive affect on the disease in simple answer is that we know from a research our animal model? And if in the result of this side how to go from a mutated gene towards preclinical research things go well, we then move understanding the molecular pathway that is forward to what we call clinical trials and this is altered. That is a much more difficult question to where we actually test these potential therapies or therapeutics in humans. address for the sporadic forms of ataxia. So for the inherited ataxias, the roadmap if you will, the I am sure you have heard the different desig - map for research, is to start with families, find nations for clinical research: phase one, phase the gene, understand the mutation and with that two and phase three. These are the trials that are information begin to elucidate the pathways in overseen by the FDA, the Federal Drug Admin - istration. In phase one, the simple question is, the cell that are altered as a result of this mutant “With this drug, what are its toxic effects?” You gene. have heard previously that every drug comes You are going to hear in subsequent talks, for with side effects and comes with toxic effects. example in Friedreich’s ataxia, we know the We are putting chemical agents into the body mitochondria is a major target, the part of the and we basically need to get a handle on what are cell that produces energy. In other forms of ataxia these toxic effects. The basic question is we want we think the nucleus might be the major target to be assured that the drug is certainly no worse of the mutant gene, the region of the cell that than the disease itself. Once a drug or thera- contains our genetic information and controls peutic passes phase one, it moves to phase two. how that genetic information is expressed. Once This is where we begin to ask the question, we understand these molecular pathways, we can “Does this drug have some potential to be effec - then move to therapeutics. Now the hope is tive to treat the disease that we are interested in?” that as, and I think it is being borne out as the If we pass phase two, we move onto phase three, research is progressing, we understand and get which are the large scale clinical trials where we therapeutics for these genetic forms of ataxia are really trying to hone in on how good is this they will also be effective for the sporadic forms drug for therapy in terms of ataxia. Then, of of ataxia. So although the research is perhaps course, if it passes phase three we have a treat - different between the two types of ataxias the ment that can be prescribed by your physician. outcome, hopefully, will be the same. Now let’s come back to the research. We think of ataxia as being formed into two major classes: Continued on page 4 Page 4 Generations Summer 2007

Ataxia Research Review move to clinical trials. An important aspect of Continued from page 3 this is coming up with a consistent and easy rating scale for progression of these ataxias and And over the years, dating back some 13 to 14 this is where our clinical colleagues will come years, the list of genes that are mutated that end into play. So hopefully, as a result of this work - up causing ataxia has grown and we have a lot of shop, we will see a more aggressive approach to targets, if you will, a lot of molecular pathways developing some clinical trials for the SCAs. to work with and each of these diseases, whether Dr. Bev Davidson in her talk today is going to they are recessive or dominant forms of ataxia are mention one of these particular approaches, the being aggressively pursued by investigators so called RNAi approach in SCA1 and other throughout the world and supported from funds, dominant neurodegenerative diseases. some from NAF, FARA, NIH, and so forth. But of course what drives this whole thing are The good news is there is a major effort under - dollars and unfortunately as we move from the way to understand the molecular basis of ataxia basic side of the bridge to the clinical side of the and to develop therapies. In bridge the amount of dollars it some cases, we have been quite takes to move things forward successful. In the case of Fried- gets proportionately larger and in reich’s ataxia there are currently In th“e case of terms a basic research, NAF and three drugs being tested in phase Friedreich’s ataxia FARA and of course NIH. one and phase two of clinical tri - NIH is the major supporter of als. So there clearly are examples there are currently biomedical research in the world of success. We have gone from three drugs being and in the United States. But the research lab to clinical trials. organizations like the NAF are Now I think one of the excit - tested in phase one also equally very important. ing things in terms of the SCAs and phase two of For example, in the last two is that in April there is going clinical trial s... years we have spent over one to be a workshop in the DC area million dollars supporting basic supported by the National Insti - research on the ataxias and this is tutes of Health and the NAF. ” a very critical aspect of research The goal of this workshop is this: we think the because these are new investigators into the research has come to a point where we can now ataxia field, these are new ideas and these are ex - begin to think about what else needs to be done periments and investigations the results of which so that we can take something to a clinical the investigators can now take to the NIH and trial, like what has been done in the case of ask for larger money. And over the years NAF Friedreich’s ataxia. So in a relatively small room, supported investigators have been able to lever - much smaller than this, we are going to get age those research funds to obtain five to 10 group a of basic scientists and clinical scientists times as much dollars from the NIH. So this is who work on ataxia and we are going to get important seed money that grows into a big tree them together and we are going to sit and talk in terms of a research program. for a couple of days. We are going to talk about And then, Arnie (Arnie Gruetzmacher) has where we are now from the basic science stand - already mentioned another initiative underway, point, what things do we think are close to being and this is a partnership between NAF and applicable to clinical trials and then we are going FARA and it’s the Kyle Bryant Translational to also talk about what we need to do to config - Research Award. You have heard the $100,000 ure the research platform so that these things can figure. Both organizations, yesterday I believe  Summer 2007 Generations Page 5 at 1:00 Eastern time, posted on their websites some uncommon causes of ataxia, and Khalaf the announcement for this research award. Bushara, also from Minnesota, will talk about The goal is, because of Kyle’s efforts, to award ataxia and allergies from the basic research a Friedreich’s ataxia investigator what we call a perspective. On the preclinical side we are going preclinical translational research award in the to hear from Rob Wilson from Penn on experi - amount of $100,000. And this is on a fast track mental therapeutics for Friedrich’s ataxia, and so that hopefully the grants will be received and I have already mentioned Bev’s work on reviewed within a couple of months and the microRNA’s particularly in SCA1. decision of who will get the award will be made Now, if you will, bear with me, just a few shortly thereafter. The money will be put to words about SCA1. First of all, what we know work as quickly as possible. And translational for sure; we know that SCA1 is an autosomal research is actually that part of research that takes dominant disease caused by the expansion of a an idea from the preclinical CAG triplet nucleotide in a stage to the clinical trial stage. gene. The gene that we desig - The goal here is to grease this nated is encoding a protein pathway even more with this ataxin1. That we know for sure. translational award and because As a result of research over the of Kyle’s efforts and the past 10 to 13 years since this partnership between NAF and gene was cloned we strongly FARA hopefully we will get believe that the disease is caused to the treatment even sooner by the expression of this mutant rather than later. protein containing an expanded So as we move through the polyglutamine track. What we rest of this morning’s session we are going to hear from Dr. are going to hear some impor - Davidson is a strategy to try to tant advances in the basic get rid of this mutant protein aspects of research on ataxia. from cells. We believe that the Laura (Dr. Laura Ranum) will Dr. Harry Orr nucleus is the subset or site of talk about her work on SCA8. pathogenesis, the development Dr. Sid Gilman, from Michigan, will talk about of the disease, but we don’t think that the the sporadic ataxias. Dr. Hank Paulson, who disease is caused by these large inclusions or is currently at Iowa, will talk about SCA3/ accumulations of the ataxin1 protein. I think Machado-Joseph disease. very importantly, in terms of how we view I need to mention something about Hank. future research on SCA1, we think that the nor - Hank is embarking upon a move that is mal function of this protein actually underlies absolutely incredible. Hank was born and raised how the mutant protein causes the disease. in Columbus, Ohio, which is where Ohio State Therefore, we are spending a lot of time trying to is. He spent some time at the University of understand more about this normal function. Iowa and now he is going to the University of Again this is basic research, but we think that Michigan. I can’t tell you how difficult it must be the normal function of this protein somehow for somebody who grew up with the scarlet and regulates gene expression in the nucleus. gray to the land of maze and blue. He is a brave Recently, we have developed some results soul. that we think if we derail or alter cerebellar And then Meri (Meri Firpo) is going to talk to us about stem cells and Dr. Subramony about Continued on page 6 Page 6 Generations Summer 2007

Ataxia Research Review a huge potential of having an enormous affect Continued from page 5 on function. One of the things that we are also looking at in development, we render the adult neuron, the lab is that we think a biochemical process, subsequently in the adult animal, more suscepti - called phosphorylation of the protein, is an ble to disease and this potentially could be a very important process that regulates the biology of important concept in terms of how we view this protein and particularly regulates the ability ataxias and neurodegenerative disease in general. of the mutant protein to cause the disease. And That is, proper development is very important why are we excited about this? This simple fact in setting the stage and if we compromise devel - is that the process of phosphorylating a protein is opment we could render the animals much more driven by a set of enzymes we call kinases and the susceptible to insults later on in the adult. I think, reality is a major set of drugs that are developed very excitingly, neurons can recover from the by pharmaceuticals are drugs that are targeted to effects of the mutant protein. So this is a very these proteins, these kinases, so we are hopeful hopeful sign, that if we can get rid of the mutant that perhaps there is a drug out there that has protein or alter its ability to cause the disease, already been developed to target a kinase that will even after the disease has developed, we have be beneficial in altering this process in SCA1.O

NAF Giving Options Abound There are many ways you can help support the NAF and receive annuity payments. important work of the National Ataxia Founda - • NAF Annual Meeting Fund: Donations made tion. Here are just a few: to help support the annual membership meet - • Combined Federal Campaign (CFC) Giving: ings. NAF’s new CFC number is 10752. • Host Your Own NAF Fund Raiser: Contact • United Ways: Designate your United Way NAF for guidelines and application. gifts to NAF. • Pledging: You can pledge monthly, quarterly, • Employer Matching Gift Programs: Ask your or annually to NAF. employer to match your donation to NAF. • Individual Donations: Individuals who make • Donate your vehicle: Donate your car, truck, donations in support of NAF programs. or van. Contact NAF for further details. • Volunteer: There are a number of ways you • Shopping on the Web: Shop online at can help NAF by volunteering your time and www.iGive.com and for each purchase you talents. Contact NAF for more information. make a donation will be made to NAF. • Group Support: Ask your local civic groups • Annual NAF Memberships: There are indi - to help support NAF. vidual, household, professional, patron, and gift • Honors and Memorials: Remembering and memberships available. If you are not a mem - honoring family and friends. ber, please use the form on the back page of • Family Funds: Families pooling their money Generations to join today. together to support NAF programs and research. • Annual NAF Research Drive: Contribute an - These are just a few ways you can help NAF nually to the ataxia research drive in support of provide meaningful programs and promising important ataxia research studies. research. • Stock Donations: Donating appreciated The National Ataxia Foundation is a nonprofit, securities, such as stock, to NAF. tax exempt 501(c)(3) organization. Donations • Deferred Giving: Remember NAF in your will. made to the Foundation are tax deductible to • Charitable Gift Annuities: Gifting assets to the fullest extent of the law. Summer 2007 Generations Page 7 Experimental Therapeutics for Frie dreic h’ s Ataxia By Dr. Robert Wilson, MD, PhD Dr. Robert Wilson is an Associate Professor in the Department of Pathology and Laboratory Medicine at the University of Pennsylvania and is the Associate Director of Molecular Pathology for the Univer - sity of Pennsylvania Health System. He received his BA in Music and BS in Biochemistry from Brown University. He then received his MD and PhD in Genetics from the University of Pennsylvania followed by a Clinical Pathology Residency, a Transfusion Medicine Fellowship, and post-doctoral research in the Howard Hughes Medical Institute, all at the University of Pennsylvania. Dr. Wilson also serves on the National Ataxia Foundation’s Medical and Research Advisory Board. The following was presented at the 2007 NAF Annual Membership Meeting in Memphis, Tennessee. First I would like to thank the National Ataxia frataxin is one of the many proteins that is Foundation for inviting me to speak and I would encoded in the nucleus and gets imported into like to congratulate NAF and all the wonderful the mitochondria where it is very important volunteers for pulling off yet another superbly for that respiratory chain for energy production. organized meeting. I know how difficult this is. What happens in Friedreich’s ataxia is that these I’m going to talk today about experimental GAA repeats get tangled up. That is one of the therapeutics for Friedreich’s ataxia. things that happens and because of this tangling I would like to start by saying that I do have up of the DNA, much less frataxin gets made, potential conflicts of interests. Drug companies much less of it gets into the mitochondria and call me up all the time and ask for advice on how there’s a decrease in energy production and to move forward and I am only too happy to probably an increase in oxidative stress. So one help them. These are the three companies that I of the approaches that researchers are taking is to have helped the most. I have not accepted any try and increase the expression of the protein money from Sathera or Edison but I do have a from the defective gene. There are three general formal consulting relationship with ApoPharma. approaches being pursued. Nevertheless, I am going to try to give you the The first is polyamides. These are molecules straight scoop but you should know that I have that bind directly to DNA and are designed to that potential conflict of interest. untangle this pretzel and hopefully increase Friedreich’s ataxia is caused by GAA repeat expression of frataxin. These are being studied expansions in the gene encoding the protein by Joel Gottesfeld and Peter Dervan at The called frataxin. These expansions are much larger Scripps Research Institute and Cal Tech respec - than in the polyglutamine diseases that we have tively. They work well in tissue culture models heard discussed so far today. The key point about and cell culture dishes in the laboratory. The what they do, is that they decrease the amount downside of them seems to be that they of the protein frataxin that gets made. So this work best in dividing cells. Most of you with gene normally encodes a protein called frataxin. Friedreich’s know that the cell types that are As Dr. Subramony mentioned there are some proteins encoded in the mitochondria but Continued on page 8 Page 8 Generations Summer 2007

Experimental Therapeutics for Friedreich’s Ataxia frataxin expression at dosages that are not too Continued from page 7 high?” The problem with EPO is we know the side effect; it increases red blood cells. And if affected in your body neurons and muscle cells you increase red blood cells too much, bad things are non-dividing. So, I am not sure how far can happen, like stroke and kidney failure. So polyamides are going to go for the treatment of preliminary clinical trials suggested that there Friedreich’s. might be dosages of EPO that increase frataxin The second approach is through the use of in human patients but that needs to be tested molecules called histone deacetylase inhibitors or further. HDAC inhibitors. It turns out that in addition to What frataxin does is take iron to form iron- forming these pretzels, which Dr. Robert Wells sulfur clusters. Iron-sulfur clusters sit inside those has called sticky DNA, this GAA repeat expan - proteins and they mediate the movement of sion in the frataxin gene induces the packaging electrons from the food that you eat through of DNA by proteins called histones. They wrap up the DNA, and what HDAC inhibitors do is this respiratory chain and are coupled to energy help to unwrap the DNA and maybe increase production. The membranes in the mitochon - frataxin expression. And again in tissue culture dria are where the proteins are embedded and dishes in the laboratory, one does see an increase through which the electrons move that are of frataxin expression when you put HDAC coupled to energy production. When you have inhibitors on the cells. Unlike polyamides, they too little frataxin, you don’t get as good assembly seem to work in non-dividing cells. The down - of these iron-sulfur clusters, which has three im - side of HDAC inhibitors, and there are upsides portant consequences. One is that the electrons and downsides to all the things that I am going to don’t move through the electron transport chain talk about today, is that they can be very toxic. as well and so you get a decrease in energy pro - Now there are HDAC inhibitors that are more duction. A secondary consequence is that these toxic and HDAC inhibitors that are less toxic. electrons that don’t get through the electron So the hope is to try and find HDAC inhibitors transport chain can increase oxidativ e stress. that are less toxic but still work well to increase The third consequence is that there is a build up frataxin expression and that is an active area of of iron within the mitochondria and that in turn our investigation right now. can lead to oxidative stress. In addition, there may The third approach to increase frataxin expres - be a vicious cycle because it turns out that sion is with molecule of Erythropoietin, known iron-sulfur clusters are sensitive to oxidants so the as EPO. Some of you may have heard of it from oxidants may further damage the iron-sulfur the Tour d’France. Cyclists take EPO to make clusters and thereby further increase iron and extra red cells, which in fact is the side effect. decrease the movement of electrons through the Now EPO has been shown in tissue culture cells electron transport chain. Again, oxidants may in vitro in the laboratory to increase frataxin damage iron-sulfur clusters leading to a further expression. What EPO does when it induces red increase in iron and further increase in oxidants cell formation is up-regulate most of the genes and more electrons that can’t go through the involved in iron metabolism, and since frataxin iron-sulfur clusters. is involved in iron metabolism and it does up- Let me talk a little bit about some of the regulate frataxin, it may overcome the decrease therapies that are directed against these problems. in expression from this tangling of DNA and The therapeutic approach that is furthest along is from the wrapping by histone proteins. The the use of parabenzoquinones. Most of you have question is: “Can we get enough increase of not heard that word before but you probably  Summer 2007 Generations Page 9 have heard of CoQ10 and Idebenone. Those prevent these toxic side effects or catch them both fall within the class of chemicals called early enough that they don’t have serious conse - para benzoquinones. Edison Pharmaceuticals is a quences. company that is developing related parabenzo - I would like to talk about obtaining FDA quinones for the treatment of Friedreich’s approval. Sue Perlman published a very nice ataxia and all of them work to enhance the flux description of this in a recent issue of of electrons through the electron transport chain Generations , which you all should read. One and thereby potentially break this vicious cycle. question I get from people when I come to these Because they seem to be relatively non-toxic, annual meetings is, “Gee, you they’ve moved pretty far along in keep telling us about clinical trials. these interesting therapies. A second approach is What is taking so long?” MitoQ. MitoQ is basi - The answer is that it is a cally a parabenzoquinone long, complex and very but it is engineered so expensive process to take a that is concentrated in drug from the laboratory the mitochondria. Its all the way to approval in big advantage is that it the clinics. One has concentrates in the to first formulate mitochondria where the chemical com - all these problems pound in such a are happening. The way that you get disadvantage of MitoQ, very good purity. You or the downside, is that it have to show that impurities doesn’t seem to enhance the aren’t toxic. You have to study flow of electrons to the elec - pharmacokinetics. You have to tron transport chain as well as look at the absorption of the the pure parabenzoquinones drug, the distribution of the and that disruption of electron drug, the metabolism of the drug, flow may be a primary source of the excretion of the drug. And oxidants. Nevertheless, I think then you test the toxicity in MitoQ is definitely worth testing animals over many, many months and should be moving into clinical trials. for millions and millions of dollars. The third approach is iron chelators. Iron If it gets through all of that and several other chelators grab onto excess iron. ApoPharma is things I haven’t mentioned, then you get to put moving forward with clinical trials for a chelator it into humans at very, very low doses and then that actually goes all the way into mitochondria at that point maybe you start giving it to humans and can grab unto this excess iron and pull it out who have a particular disease. Usually that clin - which may break that vicious cycle and have a ical section of drug development starts with a very positive affect. The downside is that iron phase I trial to determine tolerability and safety chelation can be quite toxic and it requires very and it typically involves at least tens of patients careful monitoring of individuals who take at a minimum. Phase II looks at safety further but them. The good news is that ApoPharma has a lot of experience with iron chelaters and knows exactly how to monitor patients properly to Continued on page 10 Page 10 Generations Summer 2007

Experimental Therapeutics for Friedreich’s Ataxia hurdles, but stay tuned at future meetings. Continued from page 9 I also want to note, since I am here talking to a lot of individuals who have this disorder, a phase is also designed to evaluate disease-relevant, III trial to get approval by the FDA must be biological activity. In other words, “Is the drug placebo controlled and double-blinded. That doing biochemically what you think it is really means the investigators and the patients don’t doing? Can you show that in a convincing way?” know who is getting the placebo and who is The third step is a large scale study to establish getting the real drug. In many of these trials, it is efficacy. Typically it involves hundreds to thou - not half and half. There might be more than one sands of patients, but if you think about it, you arm of the trial that gets the drug; you might get all are here because you have rare diseases and it’s two different doses and then one group gets very hard to get together hundreds or thousands placebo. But one group has to get placebo or of patients to run a drug trial. This puts up the FDA will never approve it. That’s just the even further hurdles for drug reality. However, if there are companies who are willing to dramatic benefits, they can stop develop drugs for rare diseases. the trial early and move every - Fortunately the FDA has an an I don’“t know of body over to the drug. orphan drug division and the any plans to enter Now back in 1999 at the first NIH has an orphan drug office, International Friedreich’s Ataxia as well, to facilitate this, but it pr e-clinical testing conference, Dr. Subramony got still takes a little extra time. for gene therapy up to the podium and he said, Where are the various drugs or protein therapy. “We have to develop better that I have talked about on ataxia scales.” Back in 1999, the this spectrum? The parabenzo - I think that is gene had just been cloned a quinones, like Idebenone, are a little further couple of years before and peo - entering phase III. They are ple were starting to understand pretty far along. The FDA is down the road. the function of the protein and requiring MitoQ to have more the role of mitochondria. It was animal studies before entering all very exciting and a lot of sci - phase II, so I suspect that will probably be next ”entists said, “Okay, that will take care of itself.” year. Edison’s Compounds are in the process of But Dr. Subramony was way ahead. Now I am pre-clinical testing. I suspect they’ll move into talking to drug companies and they are all saying phase I trials before too long. ApoPharma’s iron “What’s the endpoint measure going to be for chelator may be entering phase II later this year our phase III trial?” Dr. Subramony was right. depending on the FDA’s review. EPO will likely It’s absolutely critical to get ataxia scales that are enter phase II this year or next. Polyamides and refined, precise and accurate because if you can’t HDAC inhibitors are still in pre-clinical testing. measure ataxia it doesn’t matter if you have a I think the HDAC inhibitors are going to move miracle drug. You have to have a way to measure fairly quickly depending on whether they can it and prove to the FDA that it’s efficacious in a find non-toxic ones that increase frataxin trial, so Dr. Subramony initiated this effort to expression well. develop a Friedreich’s ataxia rating scale with I don’t know of any plans to enter pre-clinical Mark Hallad and several others at the NIH. testing for gene therapy or protein therapy. My colleague at University of Pennsylvania, I think that is a little further down the road. Dr. David Lynch, has picked up the baton and is There are very difficult technical and regulatory doing a multi- center ataxia scales trial whose  Summer 2007 Generations Page 11 design is an annual assessment which includes a I think it is true for all ataxias. I’ve seen many nine-hole pegboard test, a 25-foot timed walk, sibling pairs with Friedreich’s ataxia that have low contrast vision test, and the Friedreich’s similar size repeats where one of the two exer - ataxia rating scale, which is more like a neuro - cises a lot and does a lot of physical therapy logical exam that Dr. Subramony developed. and those who do exercise are almost invariably These performance measures are turning out to doing much better than those who do not. So be looking very, very good for potential phase III I think exercise is good, but it has to be done trials. I cannot emphasize how important this is obviously safely. Diet is important. These anti- because we can’t get a drug approved if we don’t oxidants and redox active compounds that are have a good way to measure efficacy. being tested: fruits and vegetables are chock full Another question I get asked is, “Well, okay, of them, as is green tea. Some people scoff at this. it’s going to take a while, what In fact, there is a lot of benefit can I do now?” If you are inter - from a healthy diet. All of us ested in participating in clinical could benefit from that, not just trials, you just go to www. those with ataxia. So I urge you curefa.org and click on “Patient to eat lots of fruits and vegeta - Registry Sign In.” Entering bles and shop the periphery of your name and contact infor - your grocery store, not the mation into a register commits middle part. The periphery is you to nothing. All it is is a way where the stuff goes bad, if it for potential clinical trialists to goes bad, it is probably good for find out where patients are who you before it goes bad. Even might be interested in entering regular tea is full of antioxidants. clinical trials. If you are called The good news is that there and you come to meet with a are a number of therapeutic neurologist, they explain to you approaches under development all the risks and benefits and and the reason that is good Dr. Robert Wilson you get to decide. If you decide news is because some of that it is not for you, you can them will fail. But by having decline to participate. It commits you to several different approaches, we get many shots nothing. It just puts your name out there as on goal. I think given that we have a lot of dif - someone who wants to participate. Now if you ferent approaches it is very likely that one or are a little antsy about participating in a clinical more of them will succeed. trial with a new drug, at the very least I urge you Also, one possibility for the future is that these to participate in the ataxia scales trial. It is therapeutic approaches could be combined so straightforward and painless and not dangerous you could perhaps get additive effects for the and you get to see a top neurologist in the field, beneficial parts but then distribute the toxic side as well. effects across different organ systems. The caveat There are symptomatic treatments. You should to this is that there can sometimes be unexpected go see your doctors about symptomatic treat - toxic drug interactions, so I hasten to add that ments to improve your quality of life as we combining therapies should be evaluated first in develop these treatments that might affect the clinical trials. I urge you to avoid the temptation progression of the disease through an affect on to go out and try any of these compounds the underlying biochemistry. Exercise: I am a champion of exercise for Friedreich’s ataxia and Continued on page 12 Page 12 Generations Summer 2007

Experimental Therapeutics for Friedreich’s Ataxia monitored properly. Think of gasoline for Continued from page 11 example. We use it in our cars but we handle it very carefully. I think you have to approach this that might be out there without doing it in with caution but with optimism, if you do it in consultation with your physician. conjunction with well-monitored clinical trials We’re getting into compounds that are a and with your physician, I think it can be quite bit more dangerous. They are safe if they are safe. O Murphy’s G ramma By Murphy Williams, age 9, Oak Forest, Illinois Murphy’s grandmother is Wanda Willingham of Oak Forest, Illinois. When my mom married dad, they lived with said that it’s a little boy’s job to have fun and it’s my gramma at her house. After I was born I a gramma’s job to let him. After I painted myself lived there, too. When my little and my gramma she would squirt us clean with brother Jack was born I was warm water from the garden hose. We always four years old. We moved have fun. My gramma is very special to into our own house after me. One day I was chasing my gramma that. We didn’t move far around the kitchen and she was from my gramma so I screaming, pretending that she still saw her everyday. was afraid. She fell on the My gramma is very floor and broke her glasses special to me. and cut her head but she My gramma is a never stopped laughing. very special person. She just smiled at me She is a nurse and and said, “Sometimes a teacher. She was people fall. That was even in the Navy! great fun. I love My gramma is a you very much.” lot of fun; she My gramma is very always takes me special to me. places. We play in the Two years ago, my back yard, in the pool, gramma came to live we even plant a garden in our house. My every spring. I love my garden. gramma is sick now. She We have fun picking our tomatoes. It’s just has something called ataxia. She can’t work any - like we never moved. We still spend a lot of time more. She walks with a crutch. We still have a lot together. My gramma is very special to me. of fun together. My gramma can’t run anymore When I was a little boy my gramma bought me though so I can’t chase her. I still surprise her and finger paints. She would let me finger paint out - she pretends to be scared and screams very loud. side and I could paint my whole body and she would never get mad at me. My gramma always Continued on page 21 Summer 2007 Generations Page 13

From the Desk of the Executive Director

Recently I was asked the question, “What is helps in the development and distribution of membership?” Membership is really an action various publications on ataxia and aids in main - of the heart for something you believe in. It taining and updating the web site. Membership is also a commitment to oneself and to the support allows NAF representation at various organization. Ability Expos and medical conferences and pro - For some, a National Ataxia Foundation mem - vides growth and expansion for support groups bership means to belong to an organization and chapters. dedicated to serving ataxia families, while for Membership helps provide current and others it is an opportunity to be part of an or - accurate information, medical referrals, and ganization whose founding beliefs are the same sponsoring of various medical conferences. as theirs. Still others see membership as a way Membership connects people through the to meet families at the NAF annual membership Pen Pal program, the Internet, support groups meetings or chapter and support group meet - and chapters, and through conferences like the ings who share the same con - annual membership meetings. cerns and issues. In the fall of each year the NAF Last year NAF conducted its first begins an annual ataxia research annual membership drive. That drive. Funds received through this drive increased membership sup - drive are used to support promis - port by more than 50% compared ing ataxia research. Funds which to the previous year. Because of support the annual membership the success of the first drive, the drive, however, are used to sup - Foundation will be conducting its port educational programs and second annual membership drive support services. We are hopeful beginning in June 2007. that you will be able to support Many of you will be receiving a both drives in supporting world- letter asking you to support this wide ataxia research and mean - most important drive. If your mem - Michael Parent ingful programs for ataxia families. bership has recently expired or you have not yet The National Ataxia Foundation is a mem - become a member, this is a great time to sign bership supported nonprofit organization estab - up to become an NAF member. lished in 1957 to serve ataxia families. It is There are various levels of NAF membership, through membership which helps enable the or commitment, that you can choose from: 1) Foundation to provide important programs and Individual Membership, 2) Household Member - services. To become an NAF member today, ship, 3) Professional Membership, 4) Patron please fill out the membership drive return Membership, or 5) Lifetime Membership. There envelope you have received in the mail and re - is also a Gift Membership which one can give turn it with your donation to NAF. You may also as a gift to someone special in their life. complete the membership section on the back Membership entitles you to uninterrupted page of this issue of Generations and return it issues of the quarterly news publication to the Foundation or go on line to www.ataxia. Generations and also provides you with org and become a member today. discounts in attending the annual membership However one defines membership, your NAF meetings. Your membership also gives others membership makes a difference. Please give to help and hope. the 2007 NAF Annual Membership Drive today. Your National Ataxia Foundation membership Thank you. Page 14 Generations Summer 2007 Car egiver’s Cor ner NAF has permission to reprint the following excerpts from the “The Comfort of Home” series. Preparing the Home for Caregiving – Safety First Accidents can happen, but with a little planning they can be prevented. Take a close look at safety in the home where you will provide care, keeping comfort in mind, too. Ask a relative or friend to look at it with you to help see any safety hazards you may have overlooked.

General Safety Tips • Use a microwave oven whenever possible • Take out unnecessary furniture and leave (but not if someone with a pacemaker lives in the space for a walker or wheelchair to get around house). • Keep the furniture in the same place and The Bedroom make sure it will not move if leaned on • Use a monitor to listen to activity • Use chairs with long armrests to help the • Keep a flashlight near the person’s bed person get up and down • Provide a sturdy chair or table next to the • Add cushioning to sharp corners bed for help getting in and out of bed • Use low-pile carpet in solid colors • Make sure the bed is stable and doesn’t move • Don’t leave anything on the floor that might The Bathroom cause tripping, especially on stairs Accidents often happen in the bathroom. Here • Install strong railings are some safety tips: • Have good lighting inside and out • Put a non-slip mat in the tub, shower, and • Put night-lights in the rooms used by the on the floor person in your care • Install a grab bar on the edge of the vanity • Have an emergency fire escape plan; keep and in the tub or shower fire-escape routes clear; keep a fire extinguisher • Remove glass shower doors or replace them in the kitchen; and put up smoke alarms with unbreakable plastic Fall Fact • Set the hot water thermostat below 120° F • Use a single-lever faucet to balance water “Among all age groups, falls ranked as the sec - temperature (also in kitchen) ond leading cause of unintentional injury deaths • Remove locks on bathroom doors in the United States. Of those who survive a fall, 20-30 percent will suffer debilitating injuries Note that affect them the rest of their lives.” An 85-year-old needs about three times the Source: National Safety Council, Report on Injuries amount of light a 15-year-old needs to see the in America, 2003 same thing. Contrasting colors play a big part in seeing well. As much as possible, the color of The Kitchen furniture, toilet seats, counters, etc., should be • If the person in your care helps prepare food, different from the floor color. provide a safe work space (no knives and away Taking Care of Yourself – from the stove) Tips to Avoid Falling • Use an electric teakettle Falls are the leading cause of injury-  Summer 2007 Generations Page 15 related deaths among people 65 and older. a call is coming in Protect yourself and the person in your care by: • TTY for the hard of hearing • Exercising to preserve muscle strength and • Speed-dial buttons with names or pictures flexibility of friends and family instead of numbers • Being extra careful if you take medications Keep a list of emergency numbers and medi - that cause dizziness or sleepiness cines beside the telephone and on the refrigera - • Going to the eye doctor once a year tor, along with written instructions on how to • Eating foods containing calcium and tell emergency workers the address and direc - vitamin D for strong bones tions to the house. Source: New York Times, “Taking Steps So Aging Safety Outdoors Does Not Mean Falling,” by Jane E. Brody The outside of the house should have: • Ramps on stairs if needed Tip • Non-slip step surfaces and sturdy handrails To reduce the chance of falls, and to avoid reaching and bending, put frequently used items • A hidden door key at a level between the shoulders and knees. • Enough light to see walkways at night • A hedge or fence around the yard The Telephone Get a phone that has: Inspiration • Large numbers for easy dialing “The great thing about getting older is that • A handset with voice amplifiers you don’t lose all the other ages you’ve • Signal devices, such as lights that flash when been.” — Madeleine L’Engle O

Taking Care of Yoursel f: Good Nutrition is Essential and Easy Maintaining good nutrition habits is tough grains: switch breakfast cereals. Change from for anyone, but especially difficult for white to whole grain bread. Eat brown rice caregivers because they are juggling the rather than white rice and whole grain crack - potentially selective appetites of a ers rather than regular ones. patient, other family members, and their Close to Perfect Foods: Fruits and own personal mealtime likes and vegetables are easy to prepare, they dislikes. taste good, and they’re good for you. Here are some simple guidelines: Protein Variety: Most of us get more Drink Water: Water is an essential protein than we need. The average nutrient because about 55 percent of woman needs about 5 0- 80 grams of your body is made up of water. Begin protein daily; an average piece of every day with a glass of water, drink chicken contains 34 grams. Make water between and at every meal, and sure to eat protein from a variety of create the habit of taking a bottle of sources, not just meat. Fish, eggs, water whenever you go out. dairy foods, soy products, and Eat Whole Grains: Whole grains are beans are good alternatives. part of a healthy diet. Here are a few ways Source: The Caregiver Assistance to transition from refined grains to whole Newsletter, June 2007 Page 16 Generations Summer 2007 Other Movement Disorders in Patients with Ataxia

By Mark LeDoux, MD, PhD Dr. Mark LeDoux is a professor in the Department of Neurology, Division of Movement Disorders at the University of Tennessee Health Science Center. He is also a professor of Anatomy and Neurobiology at the Center for Neuroscience. After completing his residency in Neurosurgery at the University of Alabama in 1992 and his residency in Neurology at the University of Tennessee Health Science Center he joined the faculty of the University of Tennessee Health Science Center in 1997. In 1998, Dr. LeDoux was appointed Director of Dystonia Clinic at the University of Tennessee Health Science Center and received the Dystonia Doctor of Excellence Award from the Dystonia Medical Research Foundation in 2004. Dr. LeDoux’s research interests include Adult and Pediatric Movement Disorders and Treatment of Dystonia and Spasticity with Botulium Toxin. Dr. LeDoux is a member of the American Academy of Neurology, the Movement Disorders Society and the Society of Neuroscience. The following was presented at the 2007 NAF Annual Membership Meeting in Memphis, Tennessee.

Today, many people here or most people here, may be seen in addition to ataxia in patients with if you’re not a spouse or a caregiver, have ataxia. ataxia. The list includes athetosis, chorea, dysto - However a number of patients, a significant nia, fasciculations (which is an involuntary percentage of patients with ataxia, also have movement, it is not a true movement disorder), other movement disorders. myoclonus, myokymia, tics, tremor and dyski - I am a neurologist who specializes in move - nesias and we will define these types of ment disorders. I see not only patients with movements. ataxia but also patients with Parkinson’s disease First of all is athetosis. These are slow writhing and other types of movement disorders. If you and twisting movements without sustained carefully examine patients with ataxia, many of posturing. They can be seen, for example, in them do have other movement disorders that children with cerebral palsy. They can be seen in may be treatable. When we see patients in a patients with Parkinson’s disease that are being movement disorder clinic, first of all we look treated with medications. You may have seen for involuntary movements and I will give the Michael J. Fox on TV. Frequently, the involun - definitions for those different types of involun - tary movements that you see are actually chorea tary movements. We also use a term “motor and athetosis. Athetosis may worsen with syndromes.” “Motor syndromes” include invol - attempts to move and sometimes only occur untary movements but they may include other with attempts to move and they share this motor signs. The three motor syndromes that I feature with the dystonias. represent here are ataxia, Parkinsonism, and the Next is chorea; the classic disorder with chorea upper motor neuron syndrome, which is also is Huntington’s disease. Now Huntington’s known as spasticity. disease, of course, is closely related to the ataxias These are some of the involuntary movements, because it is another trinucleotide repeat disease. this is not a complete list but actually this covers Virtually all patients with Huntington’s disease the vast majority of involuntary movements that will exhibit chorea and these are irregular,  Summer 2007 Generations Page 17 rapid, uncontrolled, involuntary movements. movements: They’re very brief, so they’re less They seem to flow randomly from one part of than a tenth of a second in duration. They may the body to another. They may affect any part of be limited to one specific muscle or one area the body, the eyes, the face, the tongue, the of the body or they may involve the whole extremities. And again they’re characteristic of body. They’re very frequently precipitated by Huntington’s disease but also seen in a number movements so if a patient or individual is reach - of acquired and hereditary neurological disorders ing for an object, it may precipitate myoclonic including the ataxias. movement. Next is dystonia. Actually most of my research Myokymia. We are going through many is focused on dystonia and we pointed out a definitions because you need to know the name possible relationship between the cerebellum and for the particular movement you have and the dystonia that is gaining some momentum in doctor that you see will need to correctly classify research circles. But dystonia is characterized by your involuntary movement. Myokymia, is usu - sustained muscle contractions, usually produc - ally visualized beneath the skin as vermicular, or ing twisting and repetitive movements or abnor - wormlike, movements, a continuous rippling mal postures and positions. The key is, with movement under the skin. This usually involves dystonia, there is a sustained component to the a small area of a centimeter or couple of movement, sometimes only for an instant. centimeters. It is very commonly seen in the Dystonia is frequently precipitated by action. face, for example around the eyes or the chin. Dystonia may affect any part of your body. Sometimes the term orbiculus oculi myokymia Common types of focal dystonia include is used, for example if you stayed up too late or blepharospasm or involuntary movement of the drank too much coffee, sometimes you may get eyelids or spasmodic torticollis, involvement of a little twitch on the side of your eye and some - the neck, writer’s cramp and spasmodic dystonia times that is within the spectrum of myokymia. with involvement of the voice, often with ad - It’s due to rhythmic or semi-rhythmic bursts of duction of the vocal cords, where the vocal cords muscle potentials followed by periods of silence. are too close together, producing a strangled Now what are tics? These are T-I-C-S and not voice. So these are some types of focal dystonia, T-I-C-K-S. This is not from going hiking and but again, dystonia can appear to be generalized, camping and getting them on your skin. These it can be focal, it can involve a segment of the are actually movement disorders. The classic body. example of a tic disorder is Tourette syndrome. Fasciculations are not a true movement disor - To meet the criteria for diagnosis of Tourette der. Patients with ataxia may have fasciculations, syndrome you have to have both motor and vocal if they have damage to their anterior horn cells. tics. When we say “vocal” you have to make Those are big neurons in your spinal cord that abnormal sounds. It can be grunting or sniffing send fibers out to the muscles in the body. A or a sound of clearing your throat but for disease with involvement of anterior horn cells Tourette syndrome, you have to have both of is ALS. In some types of hereditary ataxia there these. Now patients with ataxia, on a rare occa - may also be damage to these anterior horn cells sion may exhibit tic-like movements. You can so you may see fasciculations. So, if it is in the have simple tics, such as a cough-like sound, a leg, it’s a little twitch of the muscle that you may grunt, a facial twitch or a shoulder shrug, which see in the calves or thigh muscles, you may see is quite common, or the tics may be more com - them in the hands or the feet and that’s evidence plex, more stereotypical sorts of movements. of damage to anterior horn cells. Now, myoclonus or sudden brief shock-like Continued on page 18 Page 18 Generations Summer 2007

Other Ataxia Movement Disorders intentional, when they reach toward the target Continued from page 17 the amplitude of the tremor increases so as they get toward the target that tremor increases, as Now, characteristically, how do you distinguish I’m coming toward my nose the tremor ampli - tics from some of these other quick movements, tude increases so this would be an action tremor, like myoclonus? In the case of tics, there is kinetic subtype, intentional subtype. usually a premonitory urge prior to the particu - Dyskinesias-dyskinesias is a fairly non-specific lar movement. Second, tics can be suppressed for term that neurologists use when they really can’t a period of time. So children with Tourette’s classify the movement disorder or when there’s syndrome, for example, they can dampen their a bunch of different involuntary movements tics during the day while they are at school. They may be embarrassed that their classmates are occurring together. So it may include various watching them. They dampen it down and when combinations of chorea, tremor, athetosis and they get home after school and they sit in front of dystonia. It’s commonly employed in the setting the TV and momma gives them a Twinkie, then of involuntary orobuccolingual movement, their tics go wild, because no one is watching some movements around the mouth, the them and they can relax at that point and don’t tongue, and the side of the face. Not infrequently have to suppress them. So tics, the key thing it occurs after long-term exposure to an anti- about them, as a physician deciding if the psychotic or anti-emetic, drugs that block movement is a tic, is “Can it be suppressed to dopamine receptors. some degree?” So patients that have been treated with stuff Now tremor is broad category. There is a large like Phenergan and Reglan for many years, classification scheme for tremor, but basically sometimes they will develop these movements, tremor has to have some rhythmicity to it. So to particularly older females. It is also used in the define an abnormal movement as tremor, it has setting of Parkinson’s disease and patients with to have some rhythmic component to it, a back Parkinson’s disease, like when you have seen and forth oscillation of a part of the body. Now Michael J. Fox on TV, he has a little bit too classically we see tremor in the arms or we can much, so to speak, Parkinson’s disease medica - see tremor in the jaw, in the tongue. We can also tion on board and you will see these involuntary see tremor in the feet, in the legs and other parts movements. of the body. Now I am going to talk about the motor With tremors, the classification scheme is fairly syndromes. First, we talked about the involun - simple. First of all you divide all tremors as either tary movements. The involuntary movements a resting tremor or an action tremor. Any type may occur in the context of a motor syndrome of movement is action so even if I pick my arm or they may occur in isolation. The three major up and hold it still, that is action. Now if I’m just motor syndromes are ataxia, the upper motor holding it like this and it would start to tremor, neuron syndrome or spasticity and Parkinson - that’s a postural tremor, but if is tremoring ism. You know about ataxia and we don’t have while I’m moving that would be a kinetic to spend much time on this and these are tremor. So you can have an action tremor that some of the terms that describe ataxia such as may have both postural and kinetic components asynergia – the force and timing of muscle or you may have an action tremor with only a contractions are inappropriate for the intended kinetic component. Patients with ataxia fre - movement. Second, dysmetria, overshooting or quently exhibit a tremor that is a kinetic tremor undershooting a target and lastly difficulty with an intentional component. When we say making rapid transitions in muscle tension.  Summer 2007 Generations Page 19

Sometimes the term impaired check is used positive signs associated with the upper motor where your doctor has you push down forcefully, neuron syndrome are as follows: you get a he holds and then he releases it and if you can’t velocity dependent, again this one depends on check your arm it will hit the side of the bed or the velocity in which you move the extremity, the side of your leg. So these are features of increase resistance to passive movement. You see ataxia. So ataxia can be classified as a motor brisk muscle stretch reflexes or what is called syndrome with a number of distinctive features. deep tendon reflexes by some doctors and you Next is Parkinsonism. These are the four see these pathological signs like the Babinski cardinal features of Parkinson’s disease. For most response, the annoying test that your doctor does clinical studies of Parkinson’s disease, patients when he scratches the bottom of your feet when have to exhibit at least three of these four features you are in clinic and if your big toe goes up and to have a diagnosis of Parkinson’s disease. Un - the other toes kind of fan out, that is the Babin - like a lot of the ataxias where we can make, so to ski response. So these are some of the features of speak, a definitive diagnosis with genetic testing, the upper motor neuron syndrome, some of the Parkinson’s disease largely remains positive signs. Another positive a clinical diagnosis characterized sign is clonus, where you see that by these four cardinal features. rhythmic oscillation in the foot Bradykinesia, that term brady So at“axia can when the doctor taps on the ball means slow, slow movements. of your foot and holds a little Second is rigidity. So this is a ve - be classified as a pressure and it oscillates and that’s locity and direction independent motor syndrome called clonus. Negative signs in - resistance to externally imposed clude loss of dexterity, particularly movement. So in the clinic, when with a number distally, in the distal parts of your we evaluate patients with Parkin - of distinctive upper extremities, in the fingers son’s disease we take their fingers features. and weakness. You may also, on a and we roll the hand around the long-term basis, develop changes wrist. Well, in Parkinson’s disease, in the viscoelastic properties of you will see rigidity. Sometimes ” the muscles and tendons so you we use the term cogwheel rigidity, when you see can get contractures, with for example tight the tremor superimposed rigidity you have a hamstrings in the tight heel cord where the foot ratchety feeling when you twist the arm around. flexes down and the heel cord is very tight and In patients with Parkinson’s disease we also see you subsequently can get fibrosis in the muscles postural instability, so they’re likely to fall par - and atrophy in the muscle. ticularly with various perturbations if they are Now we talked about all of these different standing still and you give them a little nudge types of involuntary movements in some of the they are more likely to tip over and fall. And then motor syndromes. They can be seen in a number lastly, a resting tremor. So we have classified a of hereditary and acquired ataxias. However, tremor as either resting or action and the resting I will point out some examples that have tremor is quite characteristic of Parkinson’s been fairly well described in the literature. For disease. example chorea can be seen in a number of Upper motor neuron syndrome-spasticity, so patients with SCA2 and SCA17. Parkinsonism a number of types of hereditary ataxia are has been well described in SCA2 and SCA3. also associated with spasticity so patients not It can be seen in some of the other hereditary only have an ataxic syndrome but also have an upper motor neuron or spastic syndrome. So the Continued on page 46 Page 20 Generations Summer 2007 Gener at ions Word Find Please see directions and terms at right. Answers appear on page 37 .

WQP IWBVDERTYUOLHGKFP

BGFOCURTFVMGWNBXCZWK

AJ AF LDENTATENUCLE I KO

NAT I ONA l CAKEHROUGHFL

ESAASDFDZXCVBNMP I SGB

CLXTQUI NYJUBOWLTAGVX

PB I HNCARD I OMYOPATHYC

E I AVLGEBD I PCDWAUMOPN

KOSASDFRCRGPOUUTRKFA

VZUXGLAFEBJQHZYLY I HF

DRPCALYQSBKOPNWTORZM

COPVERIONZEMHTAZI IDI

KUOTVSEHU MA LONRCL AMS

GEREYBYFQBPWL I WAQA I S

SCTEN I XELELXNUVSCDG I

GWGZYCOHLEDMGHMLCEKO

SYRTRANPGLXUAMVWDHON

ANORTFEDQZA I BRCBUSUS

L SUEHAGENERPAMSAMLUT

VLPEJBHA I DWATENCLFGA

ANDREWSKNZLOA I I VEROT

PARAMSOOAR I EXPXRTBUE

TYLERDHZBWXA IHDJWTSM

ZQWTYCIKPLTJAIUNGHPE

UYWVOQBHDAGLKLPDHZFN

HSCTXHBTRMUWQXLOWERT

K I I NYWFFNGBNHEARTXHS

BM I TOQU I NONEKZGWORZM Summer 2007 Generations Page 21

Mu rphy ’s Gramma popcorn for us just like my gramma used to do Continued from page 12 for me. She says it tastes much better than hers ever did. We both laugh a lot and watch the That makes my brother and me laugh real hard. movie. My gramma is very special to me. My mom always says that she’s gonna ground Sometimes we look at family photos. My gramma if she doesn’t stop playing in the house. gramma will tell me all about when my mom was My gramma has a hard time walking now so I a baby. She always tells me that I am just like my always help her. It makes me feel good. My mom was when she was my age. My gramma gramma is very special to me. always has a sweet smile on her face when she Before my gramma was sick, she would make tells me these stories. It is fun for me and my me snacks and bring them to me. Now I do that gramma can do this very easily. She doesn’t have for her. She would take me shopping and walk to walk or anything, we just sit and talk. My me all over the store. Now we go shopping and gramma is very special to me. I push her in a wheelchair all over the store. It’s When gramma falls asleep after a day of having a lot of fun for both of us and it makes me feel so much fun with me and my brother and our good. My gramma is very special to me. friends, I take her glasses off for her and snuggle My gramma loves animals. When she is tired her tight, kiss her goodnight and tell her I love or doesn’t feel good, I put a movie about animals her. I do it the same way she used to do to me. on the TV and we watch it together. I even make My gramma is very, very special to me. O

Word Find Directions Circle the terms defined below when you find them. They can be found across, down, and diagonal.

AREFLEXIA : Loss of reflexes. CEREBELLUM : The part of the brain that ATAXIA : Comes from the Greek word, “a taxis” controls coordination of movement. meaning “without order or incoordination.” It can FRATAXIN : An essential protein in the cells of the be used to refer to a neurologic symptom which body. The genetic defect that causes Friedreich’s can have many causes, or to denote one of the sev - ataxia results in reduced levels of this protein. eral degenerative diseases that cause poor coordi - IAAD : Acronym for International Ataxia Awareness nation. Day, which will be held on September 25, 2007. ATAXIA SUPPORT GROUP : A group of people NAF MISSION STATEMENT : The National who share the same issues and concerns about Ataxia Foundation is dedicated to improving ataxia issues who gather to learn, share, care and the lives of persons affected by ataxia through provide friendship and support. support, education, and research. CARDIOMYOPATHY : Disease of the heart MITOCHONDRIA : The small power packs that muscle. provide energy to the cell in the form of adenosine DENTATE NUCLEI : Located deep within the triphosphate. cerebellum and beneath the cerebellar cortex, they MITOQUINONE : An antioxidant that targets the are the main way-stations for impulses leaving the mitochondria and is being evaluated as a possible cerebellum. treatment for Friedreich’s ataxia. DR JOHN W SCHUT : The founder of the SUE HAGEN : The National Ataxia Foundation’s National Ataxia Foundation. newest employee serving as Outreach Coordinator. Page 22 Generations Summer 2007 American Academy of Neurology Conference aHuge Success By Becky Kowalkowski This year’s American Academy of Neurology www.ataxia.org , or call the office at (763) 553- Conference was held in Boston at the Hynes 0020 to order it. Many of the neurologists who Convention Center and it was a huge success. visited the NAF booth requested a copy of the The convention center has three levels and booklet. Information was also made available on exhibits were displayed on two levels. Each year NAF’s funding of grants for research. NAF staffs an information booth at this confer - I was fortunate to have two members of the ence. It is a valuable way to educate physicians New England support group volunteer to help on ataxia. Neurologists from around the world staff the booth. Donna and Charlene were attended and they asked many questions about generous to give their time and I thank them ataxia in the United States. There were several both for their help. Medical meetings such as pediatric neurologists who came up to the booth these are so important for the Foundation to at - as well and gathered information and gave us tend because not only is it a great way to network their contact information. It was surprising with other organizations but is also a wonderful how many doctors were unaware of the exis - way to meet new neurologists and continue to tence of the National Ataxia Foundation. Well provide information about ataxia. It was nice to believe me, they knew about NAF once they left see so many old faces but even nicer to see so our booth! many new faces. It was nice to be able to show them Dr. NAF attends other medical conferences, such Susan Perlman’s new booklet, Evaluation and as the American Academy of Human Genetics Management of Ataxic Disorders: An Overview for and Society for Neuroscience, so we can Physician s; they thought it was great! One way continue NAF’s mission of being “dedicated to you can help inform physicians of this resource improving the lives of persons affected by ataxia is to encourage them to go to NAF’s web site, through support, education and research.” O

Designate Your Family Research Dollars Fund Raisers For many years donors have been able to The National Ataxia Foundation is truly designate their research gift of $100 or grateful to those families who conduct fund- more to fight a specific type of ataxia. If you raisers to support the important work of the wish to support research into Friedreich’s Foundation. Families in California, Florida, ataxia, a specific type of SCA, sporadic Iowa, Illinois, and elsewhere have raised ataxia, or another form of ataxia you may hundreds of thousands of dollars to support designate your research dollars to the promising ataxia research and meaningful National Ataxia Foundation. Each research programs for ataxia families. We are truly dollar brings us one step closer in finding thankful for their incredible dedication and the answers in stopping ataxia. commitment. Summer 2007 Generations Page 23 I’m Living with AT AXI A: By Charlie Kirchner the SNEAK THIEF of Life My story begins about 25 years ago transferred from Syracuse when my golf game began to “go to UF so we were able to south” due to coordination, or lack see more of her. I was able there of. I had sold my manufacturing to see her graduate and get company, taken a job as VP of a con - married. I was able to see sulting company and now, all of the my son graduate from sudden, I began having trouble walk - high school and college. I ing, keeping my balance and my was lucky to be able to be speech became slurred. part of all these activities. My dream of having more time with I slowly went from a my family, which consisted of my wife, cane to a walker and now my 18-year-old daughter, in her first I use a walker or a wheel - year of college, and my 10-year-old son, began chair. Through all of this, I remarried to vanish. Also gone was my dream to be able to and moved from Naples to Tampa play more golf. Bay. After joining a support group, I As most of you have experienced, all my struck up a friendship with a fellow doctors were now on a first name basis with me. ataxian and together we began playing It seemed every week I was being sent to a dif - golf. Not quite the same, but at least we ferent doctor. It was finally determined that I had tried and did enjoy it. I joined a country club, SCA. Okay, now what? The doctor’s answer: bought a golf cart and with the help of friends, “Oh, there is no treatment or cure.” As my began playing twice a week. Of course I could condition worsened, I found I could no longer only drive the golf cart to the ball and hit it since tolerate the cold weather in Pennsylvania, so we I can’t walk. I continue to remain as active as moved to Florida. I was still working at the time possible and do everything I set my mind to. I re - because my daughter was in college and my son mained very active with our support group as the would soon be doing the same. I continued see - leader until January of this year when my wife ing every neurologist I could, including NIH. was transferred to Irving, Texas, and we moved. When my GP decided to have my DNA done, My philosophy is this ... There are two things we learned that I had Friedreich’s ataxia. Then in life we didn’t ask for: 1) Who our parents are, the worse possible tragedy struck. My wife was and 2) The cards we are dealt. With our parents, diagnosed with breast cancer and died a year later. we have no options. With the cards we are dealt, I firmly believe that the stress of this situation led we have two options: 1) Lay the hand down to my condition worsening and three months without looking; don’t play and you lose, or 2) after her death I was forced to retire because Pick up your cards and play like you have four I could no longer do my job and clients were aces and you can’t lose. reporting that I was drunk. Do whatever you can and whatever you want. My son was now 15 and suddenly I had plenty It may not be the best but you still win. Me: of time to spend with him. My daughter had I choose option two and I hope you do, too. O THE NATIONAL AT 50th Annual Mem “The B ridge t Memphis, Tennessee

Peter and Susan Hanks

Dr. L arry Sc and J hut ulie Sch Right: uur o Great job t d the Camille an Chapter! Mississippi

50 Years of NAF History display Elvis Live TAXIA FOUNDATION mbership Meeting ge to Hope” M March 22-2 5, 2007

Right: NAF staff sporting ’50s style

Parent e and Mike : Rena Right s mber ’s me s NA F Kyle’ p sign r hel banne

A t ribu te to Ch arlie by t he M cLa ugh lin F ami ly Look at all the happy people! Brant Kruen ke Denise Dra Arnie Gruetzmacher

Below: DeNiece Roach

’ Char Danielson Judy and Sid groovin

Sunday speakers (left to right): Drs. Harry Orr, John Day, Sarah H. Ying, Jeremy Schmahmann, Mark LeDoux, Susan Perlman, Arnulf Koeppen, and Laura Ranum. At the podium: Arnie Gruetzmacher. Summer 2007 Generations Page 27 National Ataxia Foundation 51st Annual Membership Meeting “Blazing a Trail in Research” The Flamingo Las Vegas Hotel — Ma rch 2 8-3 0, 2008

The National Ataxia Foundation Board of About Flamingo Las Vegas Directors and the National Ataxia Foundation The Flamingo Las Vegas is the official confer - Phoenix and Tucson Arizona Ataxia Support ence hotel of the 2008 NAF Annual Member - Groups would like to welcome you to the 51st ship Meeting. The Flamingo Las Vegas is located Annual Membership Meeting. Please join us directly on the Vegas Strip and minutes from the in exciting Las Vegas, Nevada to learn, share, McCarran International Airport. Guests of the network, have fun, and enjoy the sights. Flamingo can enjoy 15 acres of Caribbean-style The 2008 NAF Annual Membership Meeting foliage which includes an extravagant Wildlife will continue to focus on bringing together NAF Habitat and five separate pools, with cascading members and their families to meet and learn waterfalls, for swimming and sunbathing. Guests from world leading ataxia researchers and neu - can also shop at the more then 10 shops, relax at rologists but also to build new friendships and the Flamingo Spa & Salon and dine at the eight reunite with old friends. Whether this is your various food venues available. Guests of the first meeting or your 51st, the 2008 Annual Flamingo always have a full house when it comes Membership Meeting will be filled with educa - to entertainment from superstar Toni Braxton tion, celebration, sharing, and caring! to George Wallace. You can also utilize the Future issues of Generations will feature 2008 Caesars hotel check-in facility at McCarran Annual Membership Meeting program details. International Airport. You can check into your You may also view the latest information avail - room and receive your room key – all before able about the Annual Membership Meeting on leaving the airport. The check-in facility is our website at www.ataxia.org . Registration located near Carousel One in the south half of forms will be available in the 2007/2008 Winter the main baggage claim area, within close prox - Issue of Generations and on our website at the imity of the exits from Terminal C and D. Valet parking is available at the hotel east entrance. Self end of December 2007. parking is available in the South Garage, located About Las Vegas immediately east of the main entrance. Both are Las Vegas, an ever-changing fantasy land of a complimentary. city, has seen unbelievable expansion since it Reservations – Guest rooms are available for a emerged from the desert 100 years ago. The special group rate of $124 per night. Please be sights and sounds of Las Vegas are enjoyed by sure to make your reservations by February 22, over 38.9 million visitors every year. 2008 in order to secure the special group rate. Please visit www.visitlasvegas.com for a complete list of attractions and planning information. Continued on page 28 Page 28 Generations Summer 2007

Blazing a Trail in Research to three days in advance to schedule rides. Continued from page 27 Parking – If you have a parking permit from To book your stay online, please go to your home city for your car’s dashboard and you www.harrahs.com/CheckGroupAvailability.do? will be renting a vehicle in Las Vegas, bring it propCode=FLV&groupCode=SFNAT8, or if you with you. prefer to make your reservations by phone, You may also make advance arrangements for please call 1-800-732-2111 toll free and ask for a free 90-day temporary disabled parking the National Ataxia Foundation group rate. permit through the City of Las Vegas. Write to: City Hall, Parking Permit Office, 400 E. Stew - There are a limited number of ADA rooms art, Las Vegas, NV 89101, (702) 229-6431. Send available on a first-come, first-serve basis. To a doctor’s letter explaining the condition and the reserve one of these rooms please contact the duration of the condition, and allow two to three National Ataxia Foundation at (763) 553-0020. weeks for a response. Valet parking is also an NAF will have a limited number of shower option at nearly every hotel. chairs, tub bars and toilet frames available on a Vegas on Foot – With all of these transporta - first-come, first-serve basis at the Flamingo tion options, you will still cover a lot of the city Hotel and Casino. on foot. That said, the length of the Strip can be Transportation deceptive ... it takes more time than you would Shuttle – Transportation to the Flamingo is think to walk from one end to the other. But available via shuttle. The cost is $7 per person parts of the Strip must be experienced on foot: one way and $14 per person round trip. You may where else in the world can you marvel at danc - charge this to your room upon check-in at the ing fountains (the Bellagio), see an erupting airport. Hours of operation: Monday through volcano (the Mirage), or watch pirates and sirens Wednesday 9AM – 7PM and Thursday through entertain on ships (Treasure Island, or T.I.) Sunday: 9AM – 11PM. nightly? Not to mention downtown’s Fremont Lift-Equipped Shuttles – These are available at Street Experience, which is a haven for pedestri - McCarran International Airport. Pick-up areas ans. Be sure to wear comfortable shoes and carry are located on the north and west sides of a bottle of water. See you in Las Vegas! baggage claim outside exit doors 8-14. Taxis – All taxi companies in Las Vegas have lift-equipped vans accommodating one wheel - Personal Care Attendants chair. Ask in advance for an accessible taxi van. Alliant Healthcare Service Strip Trolley – The trolley operates on the Strip 1050 E. Flamingo Rd., Suite W-253 and pulls up to the entrance of each hotel on its Las Vegas, NV 89119 route. Most are lift-equipped. For details call (702) 733-1599 Fax: (702) 733-9190 (702) 382-1404. CAT (Citizens Area Transit) – Bus service Comfort Keepers is fully accessible, including buses that are 701 N. Green Valley Pkwy., Suite 200 lift-equipped. Reduced fares are available for Henderson, NV 89074 persons with disabilities. Call (702) 228-7433. (702) 360-7475 Fax: (702) 990-3156 Paratransit – If you are certified to ride Nurse Core paratransit, bring your certification and you will 4423 W. Flamingo Rd. be allowed to ride for up to 21 days without a Las Vegas, NV 89103 Nevada certification. Call (702) 455-0997 one (702) 458-1137  Summer 2007 Generations Page 29

Wheelchair & Scooter Rentals Village East Drugs (wheelchairs only) Ability Center 5025 S. Eastern 6001 S. Decatur Blvd, Suite N Las Vegas, NV 89119 Las Vegas, NV 89118 (702) 736-7018 (702) 434-3030 1-800-546-7622 ADA Assistance Offices Active Mobility ADA Business Connection 4625 S. Procyon St., Suite 202 Governor’s Committee on the Employment Las Vegas, NV 89103 of People with Disabilities (702) 736-4399 (800) 877-6106 Suzanne Thomas Fax: (702) 736-5900 Voice: (702) 486-4318 TTY: (702) 486-4393 Desert Medical Equipment Las Vegas Convention and Visitors Authority 5030 S. Decatur Blvd. ADA Coordinator Las Vegas, NV 89118 (702) 892-0711 (702) 876-9171 Fax: (702) 876-9083 Nevada Relay Service Encore Productions (in-house supplier) Voice: (800) 326-6888 Located in the Las Vegas Convention Center TTY: (800) 326-6868 O 3150 Paradise Rd. Las Vegas, NV 89109 (702) 943-6780 Thank You Freedom Medical Supply & Equipment 1725 E. Warm Springs Rd., #10 Athena! Las Vegas, NV 89119 (702) 386-9997 Fax: (702) 228-9996 Athena Diagnostics is a reference labo - ratory dedicated to the development of Mesa Medical Equipment diagnostic testing for neurological disor - 5225 S. Valley View Blvd., #10 ders, including the ataxias. Athena is a Las Vegas, NV 89118 leading provider of advanced neurological (702) 367-0737 1-800-852-3006 diagnostic assays, which are performed in Fax: (702) 895-9347 their lab in Worcester, Massachusetts. Over the years, Athena Diagnostics has Scootaround Inc. continued to contribute to the National 3904 Vanessa Dr. Ataxia Foundation’s annual membership Las Vegas, NV 89103 meetings and to the NAF Ataxia Investiga - (888) 441-7575 Fax: (204) 478-1172 tors Meeting (AIM). Athena had again made a funding com - Scooters4less Inc. mittment to the Foundation’s 50th Annual 224 Bailey Island Dr. Membership Meeting, held in March 2007 Henderson, NV 89074 in Memphis, Tennessee. (702) 436-2240 Fax: (702) 436-2241 The National Ataxia Foundation is truly grateful to Athena Diagnostics’ continued Total Home Care partnership with the Foundation in serving 5321 Cameron ataxia families. Las Vegas, NV 89118 Thank you Athena! (702) 796-1016 Page 30 Generations Summer 2007 Meet the NAF Board of Directors The National Ataxia Founda - ataxia research proposals and co-chairs a committee. tions’s Board of Directors are makes funding decisions on The Board is made up of a volunteers who dedicate count - these applications. diverse group of caring people. less hours to help ataxia fami - Over the years the Board has Each member brings with them lies. The Board is responsible developed a number of com - expertise on certain issues to for providing direction and mittees to oversee various help the Foundation’s efforts to overseeing the operations of the functions of the Foundation. provide important programs to Foundation. It also reviews Each board member chairs or ataxia families. O Featured Board Member of the NAF: Camille Daglio

Camille Daglio resides in Camille is married to Allan Hattiesburg, Mississippi and Daglio of Houston, Texas and currently serves as the President they live in Hattiesburg, Missis - of the Mississippi Chapter of sippi with their two very the National Ataxia Founda - spoiled dogs, Max and Joe. tion. In 2003 Camille became Camille became familiar with a member of the Board of ataxia in her early childhood as Directors of the Foundation. she watched her grandmother Camille received a degree in progress through the stages of Business Administration with Marie’s ataxia, which later be - emphasis in Accounting from came known as SCA1. In 1967, the University of Southern Camille’s mother was diag - raisers to promote research Mississippi in 1975. She began nosed with ataxia. A few years and workshops to help spread working at the Northern later, the family became in - ataxia awareness through out the Electric Company in Laurel, volved with Dr. Robert Currier southeastern and central areas of Mississippi in various areas of at the University Medical Mississippi. Camille has stated accounting. Camille was later Center in Jackson, Mississippi. that wherever you see her being transferred to Houston, Texas Through this relationship, involved with an ataxia event, as the company became part of Camille and her two sisters and you will also see her siblings the Sunbeam Corporation. In two brothers became involved Melinda, Lori, Monty, and 1985, Camille moved back to with the Mississippi Chapter Loyd following close behind. Mississippi and later became of the NAF. In 1993 Camille She is also happy to report that employed by South Mississippi was elected President of the her niece Brianna and nephew Electric Power Association Mississippi Chapter. Jordan are beginning to take (SMEPA) in Hattiesburg. She Since becoming involved active roles in the Mississippi has worked at SMEPA for the with the Mississippi Chapter of Chapter. past 21 years and currently the National Ataxia Founda - In 2007 the NAF’s 50th holds the position of Director tion, Camille and her siblings Annual Membership Meeting of Finance. have participated in many fund- was hosted by the Mississippi  Summer 2007 Generations Page 31

A Special Thank You to Dr. Susan Pe rlman By Becky Kowalkowski tests to be performed. There are several tables Dr. Susan Perlman has once again come on the SCA’s, FA, the sporadic, episodic, DRPLA, through for the National Ataxia Foundation X- linked and mitochondrial ataxias, along with by writing a comprehensive booklet called information on treatment, and much more. “Evaluation and Manage - Recently, while attending ment of Ataxic Disorders, an the American Academy of Overview for Physicians.” Neurology meeting, several In my position, as the Pa - neurologists came to the tient Services Director for NAF booth and commented NAF, the most frequent on what a helpful booklet comment I hear is, “My doc - this is and wanted copies to tor doesn’t work much with pass on to their colleagues. patients who have ataxia. This booklet is available Do you have any information for only $5 and can be or - I can give to my physician dered on-line at www.ataxia. that will help him/her?” org or by using the order Thanks to Dr. Perlman, we form on the Merchandise now have a booklet specifi - page (p. 33) in this issue of cally written for physicians Generations . that describes how to eval - Dr. Perlman has once uate the ataxic patient. again shown her commit - This booklet will help the ment and generosity to physician know what tests those with ataxia. Please to run and includes a list say thanks by ordering a of recommended laboratory copy today.

Chapter of the National Ataxia Meeting (the original location for ataxia families. Foundation. Camille spear - for the meeting was changed Many of you have met headed this most memorable due to Hurricane Katrina), Camille at various Chapter or meeting and it was through her Camille is committed in help - Foundation functions. For commitment, involvement, and ing out for next year’s meeting. those of you who have not yet perseverance which made the Camille brings to the Board met Camille, you will find her meeting such a great success. an in-depth understanding of to be a compassionate and At that meeting, the Missis - ataxia and how it impacts each caring person who carries with sippi Chapter donated $50,000 family member. Her commit - her an infectious smile and a to the Foundation to support ment to the ataxia community steadfast commitment in her the important work of the and to the National Ataxia heart. The National Ataxia Foundation. Camille played an Foundation is unmatched. Foundation is stronger because essential role in this most Camille has worked tirelessly in of her involvement and we are successful fund-raising effort. her efforts to support promising truly grateful for all that she has Even after countless hours of ataxia research, promote aware - done and continues to do in planning and preparation for ness, and to provide meaningful helping ataxia families. Thank the 2007 Annual Membership and compassionate programs you, Camille. O Page 32 Generations Summer 2007 How Does the Normal Function of Ataxin-3 Affect Its Fate in Cells? Sokol V. Todi, PhD The University of Iowa, Department of Neurology The following is a summary of a grant funded by NAF for 2006 The most common dominantly inherited some intriguing aspects of its functions, such as ataxia is Spinocerebellar Ataxia Type 3 (SCA3), interactions with other proteins (e.g. ubiquitin), also known as Machado-Joseph Disease (MJD). enzymatic properties (e.g., deubiquitination of SCA3/MJD is caused by the expansion of a proteins), and overall involvement in cell physi - pure stretch of the amino acid glutamine in the ology (e.g., degradation of proteins and protein protein ataxin-3. These expansions affect brain quality control). areas such as the basal ganglia, brain stem and Through our research we discovered that the cerebellum. enzymatic activity of ataxin-3 is important for its In other disorders caused by expansions of cellular life span. We found that a mutation that glutamine repeats it has recently been shown that incapacitates ataxin-3 function greatly increases normal functions of the causative proteins are its stability in the cell. We also found that this linked to disease. Therefore, we decided to study mutation alters the distribution of ataxin-3 in the how the normal function of ataxin-3 affects its cell; whereas functional ataxin-3 is predomi - fate and distribution in the cell. Although the nantly found in the nucleus, non-functional exact cellular function of ataxin-3 is unknown, ataxin-3 is distributed more equally throughout studies conducted thus far have shed light into the cell. Our data also indicate that ataxin-3 func - tional activity strengthens its interaction with partners that target proteins for degradation. We still do not know how polyglutamine Attention expansion affects ataxin-3 activity. Preliminary Government data indicate that pathogenic ataxin-3 may be less active in cells. Our finding that ataxin-3 Workers function is linked to its cellular turnover may indicate that disease-causing ataxin-3 is also less Recently the Combined Federal Campaign readily degraded by cells, contributing to patho - (CFC) has changed the CFC numbers for all participating CFC organizations. The new genesis over a person’s life. Furthermore, our CFC number for the National Ataxia Foun - finding that ataxin-3 function plays a role in its dation is 10752 . cellular distribution may be quite important to This program provides a convenient way SCA3/MJD pathogenesis, since in other poly- to donate to the Foundation, and provides glutamine disorders nuclear presence of the great benefit to those with ataxia and their families. disease protein is necessary for cellular demise. For those who choose to give through Therefore, we believe that we have gathered their local CFC, please use this new number significant insight into the cellular fate of and encourage your co-workers to give to ataxin-3 based on its catalytic function, which the National Ataxia Foundation. Thank you. may help shed further light on SCA3/MJD pathogenesis. O Summer 2007 Generations Page 33

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 - A CD containing 10 songs in memory of Billa tary ataxia and the impact it had on this extended Ballard. $5 of the purchase price goes to support family. Paperback, photos. $8.75 (includes S&H) the work of the NAF. $13 (includes S&H) Keep A Goin ’ by Jeff and Melinda Cromwell “Together there is Understandin g” VH S or DVD Fifty stories about ataxians around the world. Continuation and expansion of “Together There is A portion of the proceeds goes to NA F research. Hope.” 5 0-minute in-depth look at ataxia and ataxia Paperback. $13 (includes S&H) research. VHS $20 or DVD $25 (includes S&H) Living with Ataxia by Martha Nance, MD SHIRTS / MISCELLANEOUS A compassionate, easy to understand explanation and ideas on how to live with ataxia. Paperback. 2007 50th Anniversary Annual Meeting T -Shirt $14 (includes S&H) Dark purple with “The Bridge to Hope” logo. Healing Wounded Doctor -Patient Relationships Sizes S, M, XX X- large. $10 EW! by Linda Hanner and contributor John J. Witek, MD NAF Polo Shirt N Offers demonstrations of how effective dialog can Royal blue w/ white embroidered NAF logo. $2 7.50 help move patients and doctors to productive NAF Denim Shirt relationships. Paperback. $10 (includes S&H) Denim with white embroidered NAF logo. $2 7.50 Friedreich’s Ataxia Research Cookbook “Ataxia is not a foreign cab” T -Shirt Savage, Minnesota’s Julie Karjalahti cookbook to White. New design. Sizes small to XXX -large. $10 raise money for FA research. $12 (includes S&H) “Ataxia is not a foreign cab” Sweatshirt Recipes and Recollections by Kathryn Hoefer Smith Ash colored. Sizes small to XXX -large. $20 Perfect for fund raisers. Proceeds go towards FA NAF Baseball Caps research. Paperback. $10 (includes S&H) Choose white with blue embroidered ! Managing Speech & Swallowing Problems NAF logo or blue with white embroidered NEW by G.N. Rangamani, PdD, CCC-SLP NAF logo. Velcro strap for sizing. $10 Guide to understanding and managing speech Window Cling or Bumper Sticker and /or swallowing problems . $ 7.50 (includes S&H) $1 each or 6 for $5 Evaluation and Management of Ataxic Disorders, NAF Ataxia Awareness Band an Overview for Physicians by Susan L. Perlman, MD Blue. One size fits all. $2 A guide for physicians treating ataxia ! NAF Ataxia Awareness Ribbon Magnet patients. Paperback. $5 (includes S&H) NEW Blue with white lettering/logo. $4

To order, call (763) 55 3-0020, fax (763) 55 3- 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): ______CIRCLE ONE: Visa Mastercard ______NAME ON CARD: ______CARD #: ______ORDER TOTAL: ______EXP DATE : ______PLEASE ALLOW 4-6 WEEKS FOR DELIVERY SIGNATURE : ______Page 34 Generations Summer 2007 Characterization of Frataxi n’s Function in the Stress Response Taking Advantage of C.Elegans Model By Natascia Ventura, MD, PhD University of Rome “Tor Vergata” The following is a summary of a grant funded by NAF for 2006. Friedreich’s ataxia (FRDA) is the most com - hermaphrodite is anatomically simple with only mon inherited recessive ataxia. FRDA is caused 959 somatic cells and yet contains multiple, by the decreased expression of the frataxin gene, highly differentiated tissue types such as neurons, leading to insufficient production of the protein muscles, intestine, and epidermis. The avail- frataxin. ability of the complete DNA sequences of Frataxin is normally synthesized as a precursor C. elegans , its transparency and its defined life protein and then imported into the mitochon - cycle, have facilitated the rapid investigation of dria where it is cleaved twice to generate the ma - gene function using genetic approaches and ture protein. Frataxin is abundantly expressed in phenotypic analysis of its behavior. We thus took mitochondria-rich cells which have high oxygen advantage of the versatility of this organism to consumption such as the spinal cord, heart, create a model for Friedreich’s ataxia and inves - liver, skeletal muscle, cerebellum and pancreas. tigate the absence of frataxin at the organismal Defective frataxin expression, however, affects level. specifically the large primary neurons in the Complete removal of frataxin in C. elegans as dorsal root ganglia. Also critically affected are expected, dramatically affected its viability lead - cardiomyocites, which eventually degenerate ing to early development arrest. Surprisingly leading to dilated hypertrophic cardiomyopathy. however, partial suppression of frataxin led to Finally, the degeneration of pancreatic beta cells increased C. elegans longevity. In C. elegans , may account for the increased incidence of type nevertheless, this is consistent with inactivation I diabetes observed in FRDA patients. or reduction of other proteins involved in mito - Both the amino acid sequence and the overall chondrial metabolism. structure of frataxin are remarkably conserved We recently resolved this human-nematode from plants to mammals. A number of human paradox by showing that progressively increas - disease genes have homologs in the nematode ing inactivation of frataxin in C. elegans extended C. elegans , and the nematode system has already lifespan, but only within a discrete window of been extensively used to gain insight into the protein inactivation. At severe levels of frataxin function of some of these. We then decided to loss, and hence at severe mitochondrial dys- take advantage of the nematode C. elegans to function, deleterious consequences arose: the generate a new genetic tool to gain new insight lifespan of C. elegans shortened and animals into the molecular pathogenesis of Friedreich’s became small, sterile adults. ataxia at the organismal level. Chronic frataxin deficiency in humans induces C. elegans is a free-living nematode found in a vicious cycle that fully dismantles cell’s physi - the soil, which has been successfully used to ology and makes it difficult to recognize the study different pathologies. The adult C. elegans original defect. Pathology manifest pheno-  Summer 2007 Generations Page 35 typically only when the accumulation of dam - aged cellular components become sufficiently large such that they overwhelm repair capabili - ties. The established pathology does not then allow preventive therapy, rather, it only permits symptomatic treatments. FRDA although, can be diagnosed by genetic analysis either pre- symptomatically or early in the course of their disease. In this regard, we believed our long-lived Fig. 1 C. elegans model offers a great advantage. Indeed we proposed a model in which lower - ing frataxin affect mitochondrial functionality (decrease energy production and increase free radical generation) within a certain level that early in life may still induce stress response pathways and alter specific genes to counteract mitochondrial dysfunction and enhance cell viability. Once beyond the threshold, mito - chondrial dysfunction is too severe and no longer Fig. 2 tolerated from cells, which will eventually response genes. Specifically, we found that DNA degenerate. The early induction of protective damage repair proteins are induced following pathways would account and be sufficient to frataxin RNAi and are necessary for animals prolong C. elegans life-span. More importantly, increased life span. These results indicate a new the same pathways activated in FRDA cells early interesting role for DNA damage repair path - in life, during the pre-symptomatic phase of the ways in mediating the life span increase induced disease, could be exploited to prevent cell by mild decrease of frataxin and may suggest new degeneration and delay disease appearance, potential targets for a preventive therapy for before cell physiology is completely dismantled. Friedreich’s ataxia. O The aim of the project was then to reveal signal transduction pathways affected by mild de - crease of frataxin – and thus mild mitochondrial If you are interested dysfunction – which increase C. elegans life span in helping ataxia research and are potentially activated during the presymp - by donation of tissue tomatic phase of the disease. Organismal life span after death, please contact might be increased either by reducing the gen - Dr. Arnulf Koeppen for eration of endogenous damaging molecular information and details. species, or by increasing the organism’s ability to repair damage induced by them. A moderate Arnulf Koeppen, MD damage to mitochondria then, due to low level Professor of Neurology of frataxin with consequent increase in free VA Medical Center radical production, could induce compensatory 113 Holland Ave. stress response pathways eventually prolonging Albany, NY 12208 Phone: 518.626.6373 C. elegans life span (see Fig. 1 and Fig. 2) . Our Fax: 518.626.6369 results support our initial hypothesis. Indeed, we E-mail: Arnulf.Koeppe n@ med.va.gov found that frh-1 RNAi animals induce stress Page 36 Generations Summer 2007

esting facts and news of research at the sessions Northeast Florida Support Group and spoke with many doctors and wonderful By June McGrane people. Our group enjoyed touring Graceland, The Northeast Florida Ataxia Support Group the Peabody Hotel for duck walk, Beale Street met on April 21st at the Ocean Grove Club - for food and music, trolley tours, etc. house in Ponte Vedra Beach, Florida. This was Mac Kelso put all our photos and shots of all an opportunity to inform our group of the the doings and people at the convention on a activities at the National Ataxia Foundation wonderful DVD and narrated it at our clubhouse Annual Membership Meeting in Memphis, media room. Tennessee in March. A local attorney, Dan Armstrong, spoke on Ten members of our group attended that legal needs and laws for the handicapped and meeting. We all learned many helpful and inter - elderly. It was very informative, using an over - head projector and passing out information packets. We will meet for a last session before fall at the Bridge Restaurant for a social time on June 30.

Los Angeles Ataxia Support Group By Cherilyn McLaughlin and Sid Luther The Los Angeles Ataxia Support Group meets bi-monthly on the second Saturday at Westside Center for Independent Living (WCIL), 12901 Venice Blvd. from 2 to 4 p.m. At our last meet - ing of 2006 we had an excellent speaker from UCLA Medical Center, Dr. Joanna Jen, who spoke on “What’s New in Ataxia Diagnosis and Treatment.” Her presentation was followed by a question and answer session. There were 12 people in attendance. Our first meeting in 2007 was a business meet - ing in January. Three people attended and we basically brainstormed ideas for future meetings for the year. At our March meeting we had a speaker from Members of the Northeast Florida Ataxia Support Group at Graceland (top) and Elvis Presley’s Auto Canine Support Teams (CST). Jeanette Thomas Museum (bottom). Demo spoke of the usefulness of a service dog  Summer 2007 Generations Page 37 in everyday life. CST is an excellent program that is able to pair a person with a support dog in Chicago Ataxia Support Group less than 12 months! By Craig Lisack On May 12, our speaker, Cheryl Wedesweiler, In our spring sessions, the Chicago support brought her new book, “Dreams in August: group benefited from presentations by Grimms Life, Love and Cerebellar Ataxia.” Cheryl spoke Medical on new mobility product developments about the process of writing the book as well as and by Dr. Todd Renn on the effects of proper the challenges of publishing it. Cheryl’s book, a nutrition on ataxia and general health. compilation of poems and short stories, is avail - Group members participated in and attended a able in the poetry section of both Amazon.com fundraiser to assist in the development and and BarnesandNoble.com . After Cheryl’s presen - expansion of the Ataxia Center of the University tation, a discussion was held on strategies to of Chicago. Dr. Chris Gomez made an appear - increase awareness of our support meetings. We ance held a question and answer session. For also discussed the need to solicit volunteers to more information, see www.ataxia.uchicago.edu . staff the NAF booth at the Abilities Expo in The group is continuing to explore additional Long Beach. ways to raise funds and awareness in anticipation On June 1 5-17 the LA group, along with the of a future Chicago membership meeting. O Orange County Group, will be staffing the NAF information booth at the Abilities Expo in Long Beach. Word Find An swers Our next meeting will be the annual barbecue Here are the answers from the puzzle on page 20. on July 14. This year Jim Fritz will be hosting WQP IWBVDERTYUOLHGKFP the event at his home in Venice. We will also BGFOCURTFVMGWNBXCZWK have a speaker from Casa Colina who will tell us AJA FLDENTATENUCLE I K O about disability camping programs. We hope to NAT I ONA l CAKEHROUGHFL A have a great turn out. For information, call Sid ES ASDFDZXCVBNMP I SGB CLX TQU I NY JUBOWL TAGVX

Luther at (818) 415-3076. PB I HNCARD I OMYOPATHYC

EIA VLGE B D I PCDWAUMOPN

KOS ASDFR C R GPOUUTRKFA

Central New York Ataxia Support Group VZU XGLAFE B J QHZYLY IHF By Linda Johnson DRP C A LYQSB K O PNWTORZM P R E H I I The Central New York Support Group held CO VE IONZ M TAZ I D KUO TVSE H U MAL O N RCLA M S its second meeting in April. Linda shared the GER EYBYF QBPWL I W AQA I S information that was presented at the Annual SCT ENI XEL ELXNU V S C D G I NAF Meeting in Memphis, Tennessee. The GWG ZYCOHLE DMGHM L C EKO SYR TRANPGLX U A MVWDH O N group has grown from 10 people attending at the ANO RTFEDQZAI BRCBUSU S first meeting to 17 members having joined at L SUEHAGENE R P A MSAMLUT the second! VLP EJBHAID WAT E N CLFGA The next meeting is scheduled for July 21. The ANDREWSKN ZLOA I IVEROT PARAMSOO AR I EX PXRTBUE program will focus on exercise including infor - TYLERDH ZBWXA I HDJWTSM mation on Tai Chi relating to balance. In addi - ZQWTYC IKPLT J A IUNGHPE tion, we will be planning our IAAD activities! UYWVO QBHDA GLKLPDHZFN HSCT XHBTR MUWQ X L OWE R T

We welcome new members! Please e-mail us KI I NYWFF NGBNHEARTXHS at [email protected] . B M I TOQU I NONE K ZGWORZM Page 38 Generations Summer 2007 NAF Chapte rs & Support Gr oups

This is a list of NAF chapters and support groups. 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 California June McGrane Los Angeles Ataxia S.G. 54 Troon Terrace Sid Luther, President Ponte Vedra, FL 32082-3321 Chesapeake Chapter 339 W. Palmer, Apt. A (904) 273-4644 Ca rl J. Lauter, President Glendale, CA 91204 E-mail: jmcgranepvb@ 3200 Barker Circle, I-117 (818) 246-5758 bellsouth.net Adamstown, MD 217 10-9660 E-mail: [email protected] Orlando Ataxia S.G. (301) 64 4-1836 Web: www.geocities.com/ Jim Henderson E-mail: [email protected] HotSprings/Falls/6629/ 3212 Lee Shore Loop Web: www.geocities.com/ Orlando, FL 32820 HotSprings/Oasis/4988/ Jim Fritz (310) 397-5208 (407) 568-9092 Louisiana Chapter E-mail: [email protected] E-mail: jamesone24 @aol.com Ca rla Hagler, President Tampa Bay S.G. PMB 51056 Northern California S.G. Deborah Omictin Nygel Lenz 2250 Gause Blvd. 3042 Eastland Blvd., H 102 Slidell, LA 70461 26840 Edridge Ave. Hayward, CA 94544 Clearwater, FL 33761 (985) 643-0783 (727) 791-3587 E-mail: [email protected] (510) 783-3190 E-mail: [email protected] E-mail: [email protected] Web: http ://www.angelfire.com/ Web: www.flataxia.org la/ataxiachapter Web: www.geocities.com/ casupport/ Crystal (Chris) Frohna Mississippi Chapter Orange County S.G. 9753 Elm Way Camille Daglio, President Margaret Ann Hyatt Tampa, FL 33635 P.O. Box 17005 15202 Clemente St. (813) 453-1084 Hattiesburg, MS 39404 Westminster, CA 92683 E-mail: [email protected] E-mail: [email protected] (425) 823-6239 Support Groups E-mail: [email protected] Georgia Web: www.geocities.com/ocasgg/ Greater Atlanta Area S.G. Greg Rooks San Diego S.G. Alabama Earl McLaughlin 320 Peters St., Unit 12 Birmingham, AL S.G. 2087 Granite Hills Dr. Atlanta, GA 30313 Becky Donnelly El Cajon, CA 92019 (404) 822-7451 16 The Oaks Circle (619) 447-3753 E-mail: rooks gj@ yahoo.com Hoover, AL 35244 Ea rl ’s e-mail: [email protected] Dave Zilles (205) 987-2883 SG e-mail: sdas [email protected] 2400 Kimbrough Ct. E-mail: [email protected] Web: www.geocities.com/ Atlanta, GA 30350 (770) 399-6710 Arizona ataxia_sdasg E-mail: [email protected] Colorado Phoenix Area S.G. Lynn Robinette Rita Garcia Denver Area Ataxia S.G. 1971 Sumter Court 2322 W. Sagebrush Dr. Donna & Tom Sathre Lawrenceville, GA 3004 Chandler, AZ 85224-2155 5902 W. Maplewood Dr. (770) 982-0275 (480) 726-3579 Littleton, CO 80123 E-mail: lynn.robinette@ E-mail: [email protected] (303) 794-6351 comcast.net Tucson Area S.G. E-mail: [email protected] Bart Beck Illinois 7665 E Placita Luna Preciosa Florida Chicago Area Ataxia S.G. Tucson, AZ 85710 Northeast Florida S.G. Craig Lisack (520) 885-8326 Barry McGrane 3400 Wellington Ct., Unit 302 E-mail: bbeck [email protected] 9 Arbor Club Drive, Apt. 2 1-107 Rolling Meadows, IL 60008 Web: www.geocities.com/ Ponte Vedra Beach, FL 32082 (847) 797-9398 azataxiasg (904) 543-1638 E-mail: [email protected]  Summer 2007 Generations Page 39

Illinois (cont.) Missouri North Carolina Richard Carr Kansas City S.G. See Sout h/ North Carolina 120 South Elm Jim Clark Mount Prospect, IL 60056 6605 N. Holmes Ohio (847) 253-2920 Gladstone, MO 64118 Central Ohio S.G. E-mail: [email protected] (816) 468-7260 Cecelia Urbanski E-mail: clarkstone9348@ 7852 Country Court Southern Illinois S.G. sbcglobal.net Elaine Darte Mentor, OH 44060 (440) 255-8284 36 Lindorf Dr. St. Louis S.G. Belleville, IL 62223 Mark Bellamy E-mail: [email protected] (618) 397-3259 1306 Cypress Peggy Schroeder Pacific, MO 63069 59766 Mount Olive Rd. Kansas (636) 271-6432 McArthur, OH 45651 Kansas City S.G. E-mail: mark-bellamy@ (740) 596-4822 Lois Goodman sbcglobal.net [email protected] Web: www.stlataxia.org 729 S. Clark St. Oregon Fort Scot, KS 66701 Jim Johnson (620) 223-1996 Willamette Valley Ataxia S.G. E-mail: [email protected] Malinda Moore, CCC-SLP Louisiana New York Albany General Hospital See Louisiana Chapter 1046 Sixth Ave. S.W. Central New York Ataxia S.G. Albany, OR 97321 Linda Johnson Maine (541) 812-4162 2849 Bingley Rd. (541) 812-4614 FAX Maine Support Group Cazenovia, NY 13035 E-mail: malindam@ June West E-mail: johnsons@ samhealth.org 56 Ten Penny St. summitsolutions.net Freeport, ME 04032 Continued on page 40 (207) 865-4969 E-mail: [email protected] Web: www.ataxiaME.com Maryland Howard County S.G. Kathy van’t Hoff (301) 854-2650 MY GROUP E-mail: [email protected] Tim Daly By Legora M. Norwood (410) 715-1241 Mound Bayou, Mississippi Web: www.geocities.com /hcasg/ Massachusetts There are great people all over the world – this I believe. New England S.G. A well-worded banner I could unfurl. Donna & Richard Gorzela 45 Juliette St. Some would receive. Andover, MA 01810 What I want to do is mention for myself – (978) 475-8072 A group of people, on my special shelf. Minnesota They accepted me. Twin Cities Area S.G. Lenore Healey Schultz Our concern is common, to the group, you see. 2549 32nd Ave. S. Minneapolis, MN 55406 “Who is this group?” you ask. (612) 724-3784 My! How I welcome this task. E-mail: [email protected] Web: www.geocities.com/ It’s the Mississippi Chapter of the National Ataxia Foundation, twincitiesataxia Of which I’m proud to be a part. Mississippi See Mississippi Chapter Page 40 Generations Summer 2007

Chapters and Suppo rt Groups North Texas S.G. Electronic Continued from page 39 David Henry Jr. Support Groups 7 Wentworth Ct. Trophy Club, TX 76262 Pennsylvania E-mail: cheve 11e@ E-NAF (Electronic NAF) S.G. SE Pennsylvania S.G. sbcglobal.net Jim Kardos Liz Nussear 1283 Westfield SW (610) 277-7722 Utah North Canton, OH 44720 E-mail: [email protected] Dr. Julia Kleinschmidt (330) 499-4060 Moran Eye Center, U of Utah E-mail: jkardos @juno.com South/North Carolina 50 N. Medical Dr. Carolinas S.G. Salt Lake City, UT 84132 Int’l Support Groups Cece Russell (801) 585-2213 1305 Cely Rd. E-Mail: julia.kleinschmidt@ Easley, SC 29642 hsc.utah.edu Canada (864) 220-3395 British Columbia E-mail: cecerussell@ Virginia Ataxia Society Vancouver hotmail.com See Chesapeake Chapter Brenda Dixon Texas 206-8611 Ackroyd Rd Washington Richmond, B.C. Golden Triangle Area S.G. Dana Leblanc Milly Lewendon Canada V6X 3P4 2801 W. Sunset #59H 14104 107th Ave. NE (604) 273-2789 Orange, TX 77630 Kirkland, WA 98037 E-mail: [email protected] (409) 883-5570 (425) 823-6239 E-mail: [email protected] O E-mail: [email protected] Milly's e-mail: mmlewendon@ Web: www.bcataxia.org Web: http://ladyd1973.tripod comcast.net .com/index.html S.G. e-mail: ataxiaseattle@ comcast.net Houston Area S.G. NAF ’s new Angela Cloud Spokane Area 9405 Hwy 6 South Linda Jacoy CFC Number Houston, TX 77083 PO Box 19045 (281) 693-1826 Spokane, WA 99217 is 10752 E-mail: [email protected] [email protected] 6th Annual All California Ataxia Research Meeting (ACARM) Hilton Irvine/Orange County Airport Sunday, October 14, 2007 This yearʼs event will be held at the on . ACARM will once agDari.n S purseasnen Pt esrolmea n of the leading mreedsiceaalr cphroefressionals in California, including thpe heyvseirc-paol pthuelarra py experts from UCLA, a from Scripps Research, and . The agenda will be posted on the NAF web site as soon as it becomes available, and a copy will be mailed to all California NAF members in late August. REGISTRATION FORM Attendees’ Names (please print): Non-Refundable Payment Enclosed :

______Breakfast, Lunch & Program ______($50.00 x number attending): $ ______Voluntary Donation to NAF: $ ______Indicate number of Box Lunches: Check Total: $ ______Chicken; ____ Beef; ___ Vegetarian Please mail this completed form and check made payable to "M.A. Hyatt" to:

ACAR M#6, c/o M.A. Hyatt • 15202 Clemente St. • Westminster, CA 92683 • Telephone: (7 14) 892-8468 Summer 2007 Generations Page 41 Ambassa dor Listi ng

The following is a list of NAF Ambassadors. Ambassadors are often in areas not served by a support group or chapter. Please get to know your Ambassadors, and if you would like to become an Ambas - sador please contact the NAF office for an application.

Alabama Indiana Columbia, MO 65202 Dianne Blain Williamson Jenney Roemke (573) 474-7232 before noon 123 Leigh Ann Rd. E-mail: rogercooley@ 4522 Shenandoah Circle W. centurytel.net Hazel Green, AL 35750 Ft. Wayne, IN 46835 (256) 828-4858 (219) 485-0965 E-mail: [email protected] New York Millard H. McWhorter III Kentucky Valerie Ruggiero and P.O. Box 1457 Janice Johnson Diana Kimmel Andalusia, AL 36420 8555 Brownsville Rd. 5 Anna Court (334) 222-3423 Brownsville, KY 42210 Stony Point, NY 10980 E-mail: [email protected] (270) 597-3854 (845) 786-7471 Valeria E-mail: v rabsolutely@ Arkansas Albin Douglas Johnson aol.com 10602 Tarrytowne Dr. Judy and David King Diana E-mail: dlk0602@ Louisville, KY 40272 12580 Rivercrest Dr. optonline.net (502) 995-9003 Little Rock, AR 72212 E-mail: djohnson853@ Diane P. Hall E-mail: [email protected] hotmail.com 210 E. Utica St. Buffalo, NY 14208 California Maryland (716) 881-0677 Barbara Bynum E-mail: dianecrewshall@ John and Karen Rosenberger hotmail.com 3801 W. Bailey 6411 Summer Forest Rd. Merced, CA 95340 Frederick, MD 21701 Ohio (209) 383-1275 (301) 682-5386 Mike Fernandes E-mail: kdrosenberger@ James Kardos 7251 Brentwood Blvd. # 114 adelphia.net 1283 Westfield S.W. Brentwood, CA 94513 North Canton, OH 44720 (925) 516-6906 Michigan (330) 499-4060 E-mail: [email protected] Lynn K. Ball E-mail: [email protected] Mike Betchel 35015 Riverview Dr. Joe Miller 315 W. Alamos, Apt. 141 Paw Paw, MI 49079 Box 148 Clovis, CA 93612 (269) 657-5191 Mesopotamia, OH 44439 (559) 281-9188 E-mail: [email protected] (440) 693-4454 [email protected] E-mail: kakah @ Minnesota jmzcomputer.com Connecticut Lori Goetzman Terre Di Placito 5179 Meadow Dr. Oklahoma 107 Barton St. Rochester, MN 55904 Mark Dvorak Torrington, CT 06790 (507) 282-7127 915 Thistlewood (860) 489-5092 E-mail: [email protected] Norman, OK 73072 (405) 447-6085 Florida Debbie Kelly 310 Fern St. #7 E-mail: czechmarkmhd@ Christina Sugars Big Lake, MN 55309 yahoo.com 302 Beach Dr. (763) 263-1812 Darrell Owens Destin, FL 30541 Julie Schuur 5700 S.E. Hazel Rd. (850) 654-2817 Bartlesville, OK 74006 E-mail: [email protected] 218 Cashin Dr. Luverne, MN 56156 (918)331-9530 Illinois (507) 283-2555 E-mail: droopydog36@ hotmail.com Kevin Donnelli E-mail: [email protected] 6525 Thomas Parkway Rockford, IL 61114 Missouri (815) 633-8620 Roger Cooley Continued on page 42 1609 Cocoa Court Generations Summer 2007 Page 42

Ambassadors Virginia Australia Continued from page 41 Dick Sargent Renee Moore (Nee McCallum) (703) 321-9143 44 Lotherton Way E-mail: dcksrgn t9 @aol.com Hocking, W. Australia 6065 Texas 61 -8- 9404-7052 Jose Julio Vela Internation al E-mail: moorear @bigpond.com 6702 Long Meadow Ambassadors Corpus Christi, TX 78405 Canada (361) 993-9006 Susan M. Duncan Barbara Pluta American Samoa #407-1330 Richmond Rd. 356 Las Brisas Blvd. Bob Coulter Ottawa, Ontario K2B 8J6 Seguin, TX 78155-0193 P.O. Box 9062 (613) 820-799 (830) 557-6050 American Samoa 96799 E-mail: smdunca n1@ E-mail: [email protected] (684) 688-2437 sympatico.ca Cathy Chamberlain 551 Vermilyea Rd. Belleville, Ontario Stock Talk Canada K8N 4Z5 (613) 962-9623 In today’s markets, the be $300. So for your initial in - Prentis Clairmont Dow Jones Industrials are vestment of $500 you would 299 Somerset West, Apt. 402 seeing record highs and the save $300 in capital gains Ottawa, Ontario K2P 2L3 NASDAQ near record highs. tax and you would also be (613) 864-8545 As with the overall market, able to take a tax deduction E-mail: prentis.clairmon t@ many individual stocks and for your $2,000 donation. qmail.com mutual funds are doing ex - Moreover, you would be Terry Greenwood tremely well. supporting the important 37 Ericsson Bay Donating appreciated se - work of the Foundation. Over Winnipeg, Manitoba R3K 0T8 (204) 885-3955 curities, such as stock, to the the years generous donors E-mail: tgreenwood 6@ shaw.ca National Ataxia Foundation have given gifts of stock rang - can mean big tax savings for ing from $1,000 to more India you and make a significant than $1,000,000. Each of Abhinav Kedia impact on the Foundation these donors have realized A9/7A Gomti Apartments and the people it serves. the significant tax advan - Kalkaji Extension Consider, for example, an tages in directly donating ap - New Delhi-19 investor who purchased 100 preciated stock and the value Phone: 0091-011-29960809/ shares of stock over a year their generosity has made in 29962759/41861809 Mobile: 0091-098-18411506 ago for $5 per share. The supporting the important pro - E-mail: abhinav_kedia_2000 shares today are worth $20 grams of the Foundation. @yahoo.com per share. That initial invest - Perhaps it is time for you to Chandu Prasad George.CH, ment of $500 is now worth also look into the advantages H-No:5-9520, Sri Laxmi $2,000. If those shares are of directly donating appreci - Nagar Colony, directly donated to NAF, you ated stock to the National Old Alwal, Secunderabad, would be getting a deduction Ataxia Foundation. As with all 500 010 INDIA for a $2,000 donation, not tax related issues, we rec - Mobile: 0910-9949019410 Phone: 0091-040-27971043 the $500 from your initial ommend before giving a gift Fax: 091-040-27971043 investment. of appreciated stock to con - E-mail: sam_ataxiaindia@ In addition, with directly sult IRS Publication 526 or yahoo.com donated appreciated stock contact your tax professional E-mail: georgegabrielster@ O there is no capital gains tax. for the latest information re - gmail.com Let’s say the capital gains garding the tax advantages in tax is 20% on your $1,500 this type of donation. Thank gain; the tax savings would you. www .ataxia .org Summer 2007 Generations Page 43 Ca lendar of Events Hospital). Contact Earl McLaughlin at (619) JULY 2007 447-3753 or [email protected] or visit www.geocities. com/ataxia_sdasg/. Monday, July 2, 2007 Saturday, July 14, 2007 Spokane Area Support Group Meeting 5:30- 7:00 PM at Sacred Heart Hospital, Spokane, WA Tampa Bay Ataxia Support Group Meeting in the Mary Bead Room. Contact Linda Jacoy at noo n-3 PM at Feather Sound Community [email protected]. Church, 13880 Feather Sound Drive, Clear- water, FL. Contact Nygel Lenz at nygell@hotmail Wednesday, July 11, 2007 .com or Chris Frohna at (813) 453-1084 or Willamette Valley Ataxia Support Group [email protected] or visit www.flataxia1.org. Meeting 11 AM - 12:30 PM at Albany Sunday, July 15, 2007 General Hospital, Albany, OR. Contact Malinda Moore, CCC-SLP at (541) 812-4162 or Chicago Area Ataxia Support Group Meet - [email protected] . ing at Good Samaritian Hospital-White Oak Room, 3815 Highland Ave, Downers Grove, Saturday, July 14, 2007 IL. Contact Craig Lisack at (847) 797-9398 or Kansas City Ataxia Support Group Meeting [email protected] . 2-4 PM at NE Library, 65 Wilson Avenue, Kansas City, MO. Contact Lois Goodman AUGUST 2007 at (620) 223-1996 or contact Jim Clark at [email protected] Monday, August 6, 2007 Saturday, July 14, 2007 Spokane Area Support Group Meeting Los Angeles Ataxia Support Group Picnic/ 5:30-7 PM at Sacred Heart Hospital, Spokane, BBQ 2-4 PM at The Westside Center for WA in the Mary Bead Room. Contact Linda Independent Living, 12901 Venice Beach, CA. Jacoy at [email protected]. Contact Sid Luther for more information at (818) Wednesday, August 8, 2007 246-5758 or visit www.geocities.com/HotSprings/ Falls/6629/. Willamette Valley Ataxia Support Group Meeting 11 AM - 12:30 PM at Albany Saturday, July 14, 2007 General Hospital, Albany, OR. Contact Malinda North Texas Ataxia Support Group Meet - Moore, CCC-SLP at (541) 812-4162 or ing 10 AM at Las Colinas Medical Center, 6800 [email protected] . MacArthur Blvd, Irving TX. Saturday, August 11, 2007 Saturday, July 14, 2007 Greater Atlanta Area Ataxia Support Group Northern California Ataxia Support Group Meeting a Emory Center for Rehabilitation Meeting at Our Savior’s Lutheran Church, Medicine. Contact Greg Rooks at (404) 822- Lafayette, CA. Contact Deborah Omictin at 7451 or visit www.geocities.com/ atlantaataxia . (510) 783-3190 or [email protected]. Saturday, August 11, 2007 Saturday, July 14, 2007 Kansas City Ataxia Support Group Meeting San Diego Ataxia Support Group Meeting 2–4 PM at NE Library, 65 Wilson Avenue, 1-3 PM at Sharp Rehabilitation Center, 2999 Health Center Drive (behind Sharp Memorial Continued on page 44 Page 44 Generations Summer 2007

Calendar of Events SEPTEMBER 2007 Continued from page 43 Monday, September 3, 2007 Kansas City, MO. Contact Lois Goodman at (620) 223-1996 or contact Jim Clark at Spokane Area Support Group Meeting [email protected] 5:30-7:00 PM at Sacred Heart Hospital, Spokane, WA in the Mary Bead Room. Con - Saturday, August 11, 2007 tact Linda Jacoy at [email protected]. North Texas Ataxia Support Group Meet - Saturday, September 8, 2007 ing 10 AM at Las Colinas Medical Center, 6800 Ataxia Society of Vancouver, B.C. Support MacArthur Blvd, Irving TX. Group Meeting 1-3 PM at GFStrong Rehab Saturday, August 11, 2007 Centre Room 109. Contact Brenda Dixon at (604) 273-2789 or [email protected] or visit San Diego Ataxia Support Group BBQ bcataxia.org/events.htm . Contact Earl McLaughlin at (619) 447-3753 or [email protected] for event details or visit Saturday, September 8, 2007 www.geocities. com/ataxia_sdasg/. Central Ohio Support Group Annual Picnic Noon at Blacklick Woods State Park. Sunday, August 12, 2007 Contact Cecelia Urbanski at (440) 255-8284 or Seattle Area Ataxia Support Group Meet - [email protected] . ing at the Federal Way 320th Library, 848 S. 320th St, Federal Way. Contact Milly Saturday, September 8, 2007 Lewendon at (425) 830-7299 or mmlewendon@ Denver Area Ataxia Support Group Meet - comcast.net . ing 1-3:00 PM at The Swedish Hospital Med - ical Conference Center in the A/B Meeting Wednesday, August 15, 2007 Rooms, 501 East Hampden Avenue, Englewood Utah Ataxia Support Group Meeting and CO. Contact Donna or Tom Sathre at (303) tour of new Moran Eye Clinic Building. 794-6351 or [email protected] . Contact Dr. Julia Kleinschmidt at (8 01 ) 585-2213 Saturday, September 8, 2007 or [email protected] . Kansas City Ataxia Support Group Meeting Saturday, August 18, 2007 2–4 PM at NE Library, 65 Wilson Avenue, Orange County Ataxia Support Group Kansas City, MO. Contact Lois Goodman Meeting 2-5 PM at Orange Coast Memorial at (620) 223-1996 or contact Jim Clark at [email protected] Medical Center, 9920 Talbert Avenue, Fountain Valley, CA. Contact Peggy Hyatt at mahyatt@ Saturday, September 8, 2007 social.rr.com or visit www.geocities.com/ocasgg/ . North Texas Ataxia Support Group Meet - ing 10 AM at Las Colinas Medical Center, 6800 MacArthur Blvd, Irving TX. Saturday, September 8, 2007 Tampa Bay Ataxia Support Group Meeting noo n-3 PM at Feather Sound Community Church, 13880 Feather Sound Drive, Clear- water, FL. Contact Nygel Lenz at nygell@hotmail .com or Chris Frohna at (813) 453-1084 or [email protected] or visit www.flataxia1.org.  Summer 2007 Generations Page 45

Monday, September 10, 2007 second floor Gerber Room. Contact Liz Nussear at (610) 277-7722 or [email protected] . Los Angeles Ataxia Support Group Meet - ing 2-4 PM at The Westside Center for Saturday, September 29, 2007 Independent Living, 12901 Venice Beach, CA. 1st Annual Charley McLaughlin 2K Walk n’ Contact Sid Luther for more information at Roll for Ataxia by the San Diego Ataxia S.G. in (818) 246-5758 or visit www.geocities.com/ celebration of IAAD. North of Seaport Village. HotSprings/ Falls/6629/. Registration 7 -8 AM. Event at 8 AM. No fee Wednesday, September 12, 2007 (donations only). All proceeds benefit NAF. Contact Earl McLaughlin at [email protected] or Willamette Valley Ataxia Support Group visit www.ataxia.org/chapters/SanDiego/default.aspx . Meeting 11 AM - 12:30 PM at Albany General Hospital, Albany, OR. Contact Saturday, September 29, 2007 Malinda Moore, CCC-SLP at (541) 812-4162 New England Ataxia Support Group Meet - or [email protected] . ing Noon - 3 PM at Yawkey Building on the Saturday, September 15, 2007 second floor in room 210 at Mass General Hospital. Contact Donna or Rich Gorzela at Orange County Ataxia Support Group (978) 475-8072. Meeting 2-5 PM at Orange Coast Memorial Medical Center, 9920 Talbert Avenue, Fountain OCTOBER 2007 Valley, CA. Contact Peggy Hyatt at mahyatt@ social.rr.com or visit www.geocities.com/ocasgg/ . Monday, October 1, 2007 Sunday, September 16, 2007 Spokane Area Support Group Meeting Chicago Area Ataxia Support Group Meet - 5:30-7:00 PM at Sacred Heart Hospital, ing at Good Samaritian Hospital-White Oak Spokane, WA in the Mary Bead Room. Con - Room, 3815 Highland Ave, Downers Grove IL. tact Linda Jacoy at [email protected]. Contact Craig Lisack at (847) 797-9398 or [email protected] . Wednesday, October 10, 2007 Willamette Valley Ataxia Support Group Tuesday, September 18, 2007 Meeting 11 AM - 12:30 PM at Albany SE Pennsylvania Ataxia Support Group General Hospital, Albany, OR. Contact Meeting 10:00 - 11:30 AM at Mercy Suburban Malinda Moore, CCC-SLP at (541) 812-4162 Hospital, DeKalb Pike, Norristown PA in the or [email protected] . O

New NAF Research Program for FA The National Ataxia Foundation is pleased to these donors. announce the establishment of its fourth The National Ataxia Foundation first began ataxia research program called the “Friedreich’s direct funding ataxia research in 1978 through Ataxia Special Projects Award.” This tw o-year, its NAF Research “Seed-Money” Program. In $200,000 research award was established to 2000 it began the NAF Research Fellowship help accelerate Friedreich’s ataxia (FA) research Award and in 2001 established the NAF and is offered to scientists around the world. $100,000 Young Investigator Award. This NAF research fund, specifically estab - Over the past eight years the Foundation has lished for Friedreich’s ataxia research, was awarded funding to 100 promising ataxia re - made possible through the generosity of donors search studies in eight countries. Your dona - who designated significant funds to support FA tions towards FA research will help support this research. The Foundation is truly grateful to fund and other NAF research programs. Page 46 Generations Summer 2007

Other Ataxia Movement Disorders with SCA2 over 65 years of age by chance alone Continued from page 19 one will have Parkinson’s disease. Essential tremor is another movement disorder that is ataxias. Myoclonus is not an infrequent feature fairly common. Anywhere from 0.5-3% of the of DRPLA, and SCA14. Spasticity is quite adult population will have essential tremor. common in SCA8 and of course in Friedreich’s Therefore, there is the possibility that they may ataxia and dystonia is seen with perhaps the just exist with ataxia by chance alone. And majority of the hereditary ataxias but clearly restless leg syndrome is another sensorimotor SCA6, SCA3, SCA14, SCA17, ataxia with disorder and it may occur in as many as 10% of vitamin E deficiency and SCA7. We have two the population. So the occurrence may be by patients in my clinic that have exhibited facial chance alone, so this should be kept in mind dystonia with SCA7. when looking at the literature. When we look at these particular other move - In conclusion, involuntary movements and ment disorders, we have to bear in mind that it motor syndromes in patients with ataxia are may not necessarily be associated with the ataxia actually not that uncommon and must be recog - mutation. For example, if a patient has an nized by your physician because they can be expanded repeat and they have SCA2 and they treated. Patients with Parkinsonism may respond have Parkinson’s disease, it may be just a chance well to levodopa or dopamine agonists like occurrence. Parkinson’s disease is fairly com - pramipexole and ropinirole. I’m just putting one mon, one out of 100 persons over 65 years of age or two treatment options here. There are a have Parkinson’s disease. If you have 100 people number of treatment options that can be pursued in individual patients and the decision to use one treatment or another may depend on other medications that you are on and other factors. International Myoclonus may respond to a drug called levetiracetam, also called Keppra. Dystonia, Ataxia actually for a lot of dystonias, botulinum toxin or Botox injections are first line treatment. For Awareness Day spasticity, first line treatment, of course, is International Ataxia Awareness Day is physical therapy with stretching and maintain - an international effort from ataxia organi - ing passive range of motion in the extremities zations around the world to dedicate and preventing contractures. For the individual September 25 as International Ataxia with the dystonia of the leg, this dystonia re - Awareness Day (I AAD). sponds very well to Botox injections. Baclofen Each participating country, state, or indi - vidual may have a specific plan for this can be used for spasticity. For chorea, tetra - event. The goal of IAAD is for every individ - benazine is one medicine that is commonly used ual to participate in some activity, creating for choreiform movements but there are other awareness about ataxia. options. And there are options for some of the This year’s Eighth Annual IAAD is your other involuntary movements that we discussed. chance to make a difference in the fight So it is important to recognize these in yourself against ataxia. Start making plans today for your activities. or your family members. Point them out to your To find out how you can help, contact our physician if he fails to recognize them, because offices at (763) 553-0020 or visit our web some of these movements can effectively be site, www.ataxia.org . treated and may improve your quality of life. Thank you. O Summer 2007 Generations Page 47 Memorials 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 March 2007 through May 2007. 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. Dorothy Aho Ronald Hutchins Paula Partilla Marvin Schoon Gertrude Tougas Jeffrey Ahrens Martin Inderbitzen Norma Payne Robert Schuur Jay Underwood Sunan Ajharn Jane Jaffe Corey Pemberton Derek Semler Rudy Van’t Hoff Frank Aldridge Jr. Lisa Jaffe Sean Pemberton John Semler Mark Watt Vicki Balogh Patricia Johnson Janet Pepitone Marion Semler Rachael Wauben Betty Beck R. Jurasek Pina Persico Sherry Sharp Cheryl Clair Beck Keiko Kain Rita Powell Linda Simon Wedesweiler Kay Bell Marvin Kamen David Price Kim Skinner Susan Weiler Esther Bender Chris Kardos Stephen Price Marjorie Smiley Jean Wentz Kim Bishop Amy Keller Ernie Prince Jr. Marvin Smith Walter Wentz Stephanie Blake Thomas Kennedy John Rhodes Norma Somers Michael Wheeler Emma Bond Bob King Tina Rhodes Joseph Stamler Dianne Wiilliams Linda Bowen Katherine Kratzke Dan Rose Lisa Stein John Wilcox Kent Bray Ann LaBarbera Jeff Rose Cathy Steward Hebron Jane Brewer Nancy Latham Trevor Rosenberg Larry Swier Youngblood Bill Brogden Clarke Lauchmen Anne Sanchez Gary Sword Mike Youngblood Kyle Bryant Linda Lee Donald Santa James Taylor Jr. T.H. Youngblood Sr. Brenda Callis Dick Lewis Croce Harold Thiesen Toby O Evelyn Camacho Harriet Lewis Benjamin Cantor Carly Magnuson Richard Carr Deborah Markham James Costello Christopher Marsh Anna Cote Linda May Kathy Davenport Darrin McCarty SHOPPING Carlo DiSilvestro Charley on the Alfred Dominici McLaughlin WEB Leigh Donaker Earl McLaughlin Denise Dudley Renata What if you could shop at a vast array of stores without Sandy Dudzic McLaughlin leaving your home, get special discounts, and for each Joseph Falcon Reggie Mellon purchase you make a donation would be made to the Katherine Falcon Margaret Millsap National Ataxia Foundation? John Gallant Jr. Meg Millsap It might sound too good to be true, but there really is Bettyanne Geikler Ann Mishmash such a place. Simply visit www.iGive.com and you can Penny Golmina Kevin Mishmash shop for brand names you know and trust at hundreds Mervin Graf Patrick Moore of stores, and receive discounts. Terri Gregory Dolores Morello All without leaving your home ! Paschal Guercio Marlene Murray There is one more advantage. Wilbur Hackett Helen Myers With each purchase you make, Donald Hardy Sr. Jennifer Nichols Mary Lou Harrison John Ondracek a donation will be made to the Charlotte Henry Cathryne National Ataxia Foundation. David Henry Jr. Overstreet Try this fine shopping portal Elaine Horvath Rhonda Pagel today and have fun shoppin g! Howard Hunnius Bonnie Park National Ataxia Foundation Non-Profit 2600 Fernbrook Lane, Suite 119 Organization Minneapolis, MN 5544 7-4752 U.S. Postage (76 3) 55 3-0020 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 (76 3) 55 3-0020. Thank yo u!

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 $10 0-$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 Hono r/ 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 ______