NATIONAL ATAXIA FOUNDATION
FREQUENTLY ASKED QUESTIONS ABOUT.
Spinocerebellar Ataxia Type 1 (SCA1)
What is spinocerebellar ataxia type 1?
Spinocerebellar ataxia type 1 (SCA1) is one specific type of ataxia among a group of inherited diseases of the central nervous system. In SCA1, genetic defects lead to impairment of specific nerve fibers carrying messages to and from the brain, resulting in degeneration of the cerebellum(the coordination center of the brain).

How is SCA1 acquired?

SCA1 is a genetic disorder, which means that it is an inherited disease. The abnormal gene responsible for this disease is passed along from generation to generation by family members who carry it. Genetic diseases like SCA1 occur when one of the bodys 100,000 genes does not work properly. (Genes are microscopic structures within the cells of our bodies that contain instructions for every feature a person inherits from his or her parents.) SCA1 is an autosomal dominant disease, which means that individuals of either sex are equally likely to inherit the gene and develop the disease, and that it passes directly from one generation to the next without skipping generations. Each child of a person with SCA1 has a 50 percent chance of inheriting the SCA1 gene.
What are the symptoms of SCA1?
The first symptoms are usually incoordination of the hands and trouble with balance when walking. In fact, the word ataxia means incoordination. As SCA1 progresses over a period of several years, difficulty swallowing and indistinct speech are common. In some cases, individuals develop additional symptoms such as neuropathy (loss of feeling and reflexes in the feet or legs), spasticity, weakness, or memory troubles.

How common is SCA1?

Approximately 1-2 in 100,000 people will develop SCA1, but the ratio varies considerably based on geographical location and ethnic background.
What is the prognosis for SCA1?
In most cases, from the onset of smyptoms the duration of the disease varies from 10-30 years. The onset of symptoms in SCA1 is usually in adulthood, with average age being in the mid-30s. When the onset of symptoms is before age 20, symptoms in addition to ataxia occur more frequently. In cases of very early onset (before the age of 13) the disease tends to be more severe and progress much more rapidly.
How is the diagnosis made?
A neurologic examination can determine whether a person has symptoms typical of SCA1, and a blood test can accurately detect the presence of the abnormal gene that causes it. A neurologist is often the most helpful specialist at determining the
cause of symptoms that might be indicative of SCA1. It is important to rule out other diseases and to consider other forms of ataxia. When SCA1 is suspected, DNA-based testing is now available to confirm the diagnosis as well as to determine the severity of the disease. DNA tests involve analysis of a gene located on the 12th chromosome (each individual has 23 pairs of chromosomes). Genes are made up of substances known as nucleotides linked together in chains. Each nucleotide is identified by a letter. In SCA1, a gene mutation on the sixth chromosome results in extra copies of a series of nucleotides identified by the letters C-A-G. The more extra copies of this nucleotide series, the more severe the disease is likely to be.

manage symptoms and resources to provide emotional support. Living With Ataxia: An Information and Resource Guide is a book published by the National Ataxia Foundation, includes a range of practical information and lists additional resources. Through the World Wide Web, NAF provides and participates in many support and chat groups. For a listing of these, see our homepage at www.ataxia.org.
What kind of support is available after the diagnosis?
Although there is no specific treatment to delay or halt the progression of SCA1, there is supportive therapy available to help
NAF FAQ SHEETSPINOCEREBELLAR ATAXIA TYPE 2 (SCA2)1/01
NAF FAQ SHEETSPINOCEREBELLAR ATAXIA TYPE 1 (SCA1)4/00

Research Updates

The Role of the P/Q Type Calcium Channel in the Pathogenesis of Ataxia. 6 A New Registry for Ataxia Patients. 8 Ataxin-1, a Spinocerebellar Ataxia-1 Protein, is Functionally Linked to the Transcriptional Co-Repressor SMRT. 10 Genetic Analysis of Sporadic and Unknown Ataxias. 31

Articles

Remembering NAF in Your Will. 5 Travel Tips.. 13 Fund Raisers... 14 Americans with Disabilities Act. 15 Caregiver s Corner.. 16 Employer Matching Gifts Program. 17 NAF Annual Research Drive.. 19 Local Support.. 19 From the Desk of the Executive Director. 25 Featured NAF Board Member. 35 Generations Word Find.. 36 Help Support Annual Meeting Travel Grants... 37

Membership Topics

NAF Merchandise.. 20 Chapter and Support Group News. 38 NAF Chapters and Support Groups. 42 Ambassador Listing.. 45 Calendar of Events.. 46 Memorials and In Your Honor. 47

Personal Stories

Aging Too Fast.. 12

Page 3

Fall 2005 SCA 1: A Research Update Continued from page 1
when they are severely ataxic by both the RotoRod test as well as home cage behavior. In the case of mice the early stages is six week exposure, mid-stage is a 12 week and then late stage is a 32 week exposure. We used two types of behavioral neurological assessments. We do what we call home cage behavior which is looking at them and their movement in their home cage. Then we use an accelerating RotoRod which is a finer test of motor performance. Perhaps one might equate the home cage behavior in humans in terms to simply be able to move around in day to day motor activity. The acceleration RotoRod might be equivalent to golfing, a bunt to first base, or some other finer test of motor behavior. Our data on the RotoRod test indicates that when we stop the gene expression and look at the mice in six weeks, in 10 and in 12 weeks you might see the ataxia become progressively worse. This is the way the disease normally progresses in SCA 1 What happens in the mice when we turn the gene off ? When we look at mice where the gene has been turned off for 12 weeks they are performing on this precise motor task just as well as the mice that never got the disease. The other important point is they have this level of performance as soon as two weeks of having shut off the gene. So early on the mice are fully capable of recovering from the damage caused by the mutant ataxia gene. By our assessments using by this type of test, they are able to completely restore normal neurological function. If we go a to a later stage where we have started at 12 weeks and turn the gene off for 12 weeks the mice are still compromised on the RotoRod as if we havent turned the gene off. However, these mice by cage behavior look pretty normal. Their normal movement has recovered but their fine motor performance has yet to recover. If we go on and keep the

Page 11

In addition to ataxia and progressive motor degeneration, SCA1 patients eventually lose Purkinje cells in the cerebellum and neurons in the brainstem. In mice that have been developed to express the polyglutamine-expanded human ataxin-1 in their Purkinje cells, similar symptoms appear. Mammalian Purkinje cells are evidently vulnerable to mutant ataxin-1, although we do not know why. One clue that researchers have found is that mutant ataxin-1 must reach the nuclei of these cells in order to damage them. This suggests that mutant ataxin-1 is particularly harmful to cellular processes that take place in the nucleus. Research using fruit f lies (Drosophila) reinforces this conclusion, since genetically engineered Drosophila that express human mutant ataxin1 specifically in the nuclei also suffer damage. We recently completed a project that connected the cellular damage brought about by ataxin-1 with an important nuclear protein called SMRT (Silencing Mediator or Retinoid and Thyroid hormone receptors). SMRT cooperates with other proteins, such as thyroid hormone receptor (TR) and retinoic acid receptor (RAR), to shut down the transcription of their specific target genes. Our discovery that ataxin-1 interacted with SMRT led us to hypothesize that the pathogenesis of SCA1 may result from abnormal gene transcription. Mutant ataxin-1, we propose, may directly or indirectly interfere with TR, RAR, or other nuclear receptor signaling pathways through its interaction with SMRT. Studying protein interactions in living mammals (not to mention humans), unfortunately, is extremely difficult. We have therefore turned to Drosophila, an organism whose genetics are well understood and which provides easier access to cellular processes. Working with Drosophila is relevant to the way ataxin-1 and its related factors interact, because (1) ataxin-1 also causes toxic effects
when expressed in f ly tissues; (2) human ataxin-1 interacts not only with human SMRT, but also with the equivalent protein in Drosophila, which is called SMRTER; and (3) just as SMRT cooperates with TR or RAR in humans, SMTER cooperates in a parallel way with a steroid hormone receptor, called ecdysone receptor (EcR), in Drosophila. So far, we have shown that human ataxin-1 binds directly to Drosophila chromosomes, and at the same precise regions that also bind SMRTER/EcR. This result tells us that ataxin1 is a chromosomal binding protein that engages in direct protein-protein interaction with the transcriptional regulator SMRTER in living cells. Given the relations between SMRT/ SMRTER and steroid/thyroid/retinoid hormone receptors, we looked at how the regulatory properties of EcR are affected in f ly tissues that are engineered to express ataxin-1. Our recent research shows that ataxin-1 prevents the expression of a gene that we know is directly regulated by EcR; most excitingly, the suppression is even more significant when mutant ataxin-1, with its expanded polyglutamine section, is used for the experiment. This evidence fits well with our hypothesis that ataxin-1s toxicity comes about because normal gene transcr iption pathways EcR and SMRTER in f ly, and perhaps TR and SMRT in human cells are affected by ataxin-1. Moreover, work by other researchers has already shown that several nuclear hormone receptors play crucial roles in the development and functioning of Purkinje cells. If our further investigations show that SCA1 pathology in humans is indeed connected to disruptions in how TR or RAR does its job, it would suggest that appropriate steroid/thyroid/retinoid hormones or drugs that affect their operation might be applied to delay or even halt the onset of SCA1.

and record are: skin color, warmth, and tone (dryness, firmness, etc.) pressure areas where bed sores can develop breathing, temperature, pulse, and blood pressure circulation (dark red or blue spots on the legs or feet) finger and toe nails (any unusual conditions) mobility puff iness around the eyes and cheeks, swelling of the hands and ankles appetite body posture (relaxed, twisted, or stiff) bowel and bladder function (unusual changes) Making and Recording the Plan of Care To record a Plan of Care, use a loose-leaf notebook. Put the doctors instructions on the inside front cover (always keep the originals). After using your Plan of Care for one week, make necessary adjustments and continue to do so as the persons needs change. Always adjust to what works for you and the person being cared for. Use notes, pictures, or whatever it takes to describe your responsibilities. Also, use black ink, not pencil, to maintain a permanent record. Getting Information Be sure he/she has the hearing aid turned up. To ensure you can be heard: Stand, sit, or squat so you are at eye level with the person. Make sure your face is in the light so that your lips and facial expressions can be seen. Use simple sentences. For example,

Page 17

Do you want your slippers? Use body language such as nodding or pointing and lots of facial expressions. Speak in a normal tone, facing the person, and making eye contact. Do not shout. Do not rush or be impatient. Stand, sit, or squat so you are at eye level with the person. Make sure your face is in the light so that your lips and facial expressions can be seen. Use simple sentences. For example, Do you want your slippers? Use body language such as nodding or pointing and lots of facial expressions. Speak in a normal tone, facing the person, and making eye contact. Do not shout. Do not rush or be impatient. Patient Privacy Be aware that because of HIPAA regulations, medical infor mation is conf idential. Professional caregivers must follow the guidelines of their agency when reporting. Carry Vital Medical Information It is important to organize medical information so it is on a card and with you, especially when you are traveling with the person in your care. Include: Doctors name and phone number Pre-existing medical conditions Drug and food allergies Medical devices List of all medications, including supplements and herbs Past surgeries Insurance information Early Signs of a Heart Attack Heart disease is the primary cause of death among women in the U.S. Women who have had a heart attack recalled having warning signs up to a month before their heart attack. Their unique warning signs were not recognized or were misdiagnosed when they sought medical care. The most

Employer Matching Gifts Program
More and more companies are matching their employees donations. In fact, in recent years the Foundation has seen a significant growth in this type of donation. Employers who match their employees gifts really double the original donors gift. For example, an individual who donates $500 to the National Ataxia Foundation whose employer has a matching gift program has turned the original $500 into a $1,000 contribution. The Foundation receives matching gifts from companies across the United States. We see matching gifts of $25 to $5,000 or more. If you choose to designate your gift towards research, your companys match gift will also go towards research. And your research gift has now doubled because of your companys generosity. Please ask your employer if they provide a matching gifts program. If they do there is normally a simple matching gifts application that you send to the Foundation with your donation. The Foundation will complete the application and send it back to your employer for the matching gift. Your gift has now doubled. We would like to thank all of the donors and their employers for their generosity. Your gifts are truly helping the important work of the Foundation. We also thank each and every one of you who have encouraged their co-workers to support the Foundations efforts.
common early warning signs are unusual fatigue, sleep disturbance, shortness of breath, indigestion and anxiety. Source: Circulation, 2003, vol. 108 Continued on page 18

Page 18

Page 18 Caregivers Corner Continued from page 17
Taking Care of Yourself We All Get Tired
We all feel tired some of the time. However, if you are tired most of the time, visit your doctor to rule out a medical condition. Try to keep a journal to track when and why you feel tired. Track the following: What are the patterns to your fatigue? What time of day and day of the week are you most tired? What drains you? Can a new attitude about your circumstances help? Do your moods affect your energy levels? It is important to also identify what energizes you. Develop a support system to help you in your caregiver duties. Remember, it only takes 10 minutes of moderate exercise to enhance your energy level and brighten your mood. Be sure to take time for you, to take respite, and do some things you enjoy.

VIDEO / CD

Ballads of a Family Man A CD containing 10 songs in memory of Billa Ballard. $5 of the purchase price goes to support the work of the NAF. $13 (includes S&H) Together there is Understanding A continuation and expansion of the NAF video Together There is Hope, this 50-minute video provides an in-depth look at ataxia and ataxia research. Features state-of-the-art graphics and interviews with many of the worlds leading ataxia experts. VHS $20 or DVD $25 (include S&H)

SHIRTS / MISCELLANEOUS

2005 Annual Meeting T-Shirt Light blue with the Ray of Hope logo. Sizes small to XXX-large. $Annual Meeting DVD or VHS Please call or e-mail for information.
Ataxia is not a foreign cab T-Shirts White. New design. Sizes small to XXX-large. $10 Ataxia is not a foreign cab Sweatshirts Ash colored. Sizes small to XXX-large. $20 International Ataxia Awareness Day T-Shirt Sizes medium to XXX-large. $10 Window Clings & Bumper Stickers $1 each or 6 for $5
To order, call (763) 553-0020, fax (763) 553-0167 or mail this completed form to National Ataxia Foundation, 2600 Fernbrook Lane, Suite 119, Minneapolis, MN 55447
Description Qty. Size Each Total NAME: ______________________________________ ADDRESS: ___________________________________ CITY ________________ STATE: ____ ZIP: _______ PHONE: _____________________________________
For credit card orders, please fill out the following information (you must include phone number and signature):
____________________________________________ ____________________________________________ ____________________________________________ ____________________________________________ ____________________________________________ ____________________________________________ ____________________________________________ ORDER TOTAL: ____________________________ PLEASE ALLOW 4-6 WEEKS FOR DELIVERY

CIRCLE ONE:

Mastercard
NAME ON CARD: _____________________________ CARD #: __________________________________ EXP DATE: ___________________________________ SIGNATURE: _________________________________

Page 21

ANNOUNCING THE
National Ataxia Foundation
2006 Annual Membership Meeting March 17-19, 2006
(Leadership Meeting March 16)
Join us in Boston for the Annual Membership Meeting!
The Boston Marriott Quincy is pleased to provide specially priced rooms for the National Ataxia Foundation. Rooms are available at the special rate of $123.00 per night. Please be sure to make your reservations by February 22, 2006 in order to secure the special group rate. If rooms are available, the special rate will be extended 3 days before and 3 days after the meeting. To book your stay online, simply click on the following link www.stayatmarriott.com/Ataxia/ and select the dates of stay. If you would prefer to make your reservations by phone, please call toll free (866) 449-7387 or (800) 228-9290 and ask for the special rate for the National Ataxia Foundation Conference.
PLEASE NOTE IF YOU NEED AN ADA ROOM: Please call NAF directly at (763) 553-0020. ADA rooms requested only through the hotel will not be honored. To avoid any confusion on the assignment of an ADA room, be sure you call NAF directly. Rooms will be released by NAF on a first come, first served basis.
We look forward to seeing you in Boston!

Page 22

The National Ataxia Foundation 2006 Annual Membership Meeting

Beacon of Light

Boston, Massachusetts March 17-19, 2005
March is approaching quickly, so make your travel plans early, and join us in Boston over the St. Patricks Day weekend for our 49th Annual Membership Meeting. Meeting dates are March and we will gather at the Boston Marriott Quincy, in historic Quincy, MA, just outside of Boston. This will be our first annual meeting held in Massachusetts, and we are enjoying working with the New England Ataxia Support Group to put together a magnificent meeting. Please watch each issue of Generations as well as our website for articles with further information on the annual meeting, the local area and travel information. The following is a brief look into the 2006 Annual Meeting themed Beacon of Light: Thursday, March 16th Many attendees prefer to come in on Thursday to get settled in, rest before an onslaught of sessions, or venture out to see the sights. The New England Support Group is working on arranging a tour for this day. More information will be forthcoming. The Leadership Meeting, for cur rent Ambassadors, Chapter Presidents, and Support Group Leaders will be held on the 16th (time to be announced). This meeting is specifically for Ambassadors, Support Group Leaders, and Chapter Presidents. If you are interested in starting a support group or becoming an Ambassador, please inquire ahead of time about attending this meeting. Friday, March 17th PLEASE NOTE SOME CHANGES IN THIS YEARS MEETING FORMAT: In response to many, many comments from past years surveys, we have changed the format of the Annual Meeting this year. Please pay special attention to Fridays activities for changes. General Sessions Friday morning will begin with General Sessions. General Sessions are large group presentations, typically with a medical or research focus. Birds of a Feather In an effort to give opportunities for attendees to meet each other earlier in the conference, Birds of a Feather will take place on Friday afternoon. Groups will be sectioned off in individual or divided rooms based on your type of ataxia, caregivers, teens, etc. This will be a tremendous opportunity for you to meet others with your type of ataxia, or who share in a similar situation, and make friends that will last a lifetime. Medical professionals will also be on hand, circulating between groups, in case you have questions. Friday Night Reception Please join us for a reception in the main ballroom for a wonderful St. Patricks Day affair. All registered meeting attendees are encouraged to attend. Green attire is encouraged, but not required. Make plans to come and have some fun! More information will be available soon. Saturday, March 19th General Sessions Saturday mor ning will open with round two of the General

of glacier-formed mountains are a short drive away. The New England area offers diversity, beauty, and local community attractions. For more information on the Boston area, please visit the Greater Boston Convention & Visitors Bureau at www.BostonUSA.com.
Please Join Us We hope to see you at the 2006 Annual Membership Meeting. It promises to be an excellent meeting to learn, share, network, have fun, and enjoy the sites! See you there!

Page 26

Symptoms Other Than Ataxia in Ataxia Patients
Presented by S.H. Subramony, MD The following was presented at the 2005 NAF Annual Membership Meeting in Tampa, FL. Dr. S.H Subramony received his MD from the Delhi University in New Delhi, India in 1974. Between 1979 and 1981, Dr. Subramony served as a staff neurologist at the VA Medical Center in Jackson, Mississippi. From 1979 until 1985, he served as Assistant Professor of Neurology and as Attending Physician in the Department of Neurology at the University of Mississippi medical Center. Currently, Dr. Subramony serves as Professor and Vice-Chairman of Neurology at the University of Mississippi Medical Center, the Medical Director at the VA Medical Center and as State Liaison Officer of the Professional Standards Committee of the American Association of Electrodiagnostic Medicine. He also serves as the Medical Director for the Muscular Dystrophy Association Clinic at University Childrens Rehabilitation Center in Jackson, MS. Dr. Subramony is also a member of the National Ataxia Foundations Medical and Research Advisory Board and served as NAF Research Director and former Chair of the Cooperative Ataxia Group (CAG).
One of the problems with treating neurological disorders is the fact that even if you stop the disease process completely in someone who has had some degree of nervous system damage there is another step to go through and that is to repair what has already happened. Those are the things that cause all the symptoms and problems that patients with ataxia have. The regenerative capacity of the nervous system is still there but it is not as perfect as some other organs such as the liver which can regenerate quickly. As we develop treatments we need to focus on the problems related to nervous systems damage. We all know that the word, ataxia, refers to imbalance related to degeneration of the cerebellum and its connecting pathways. Most of us understand this word. To a Neurologists, the word, ataxia, means the balance and coordination diff iculties that occur because of problems in the cerebellum. At the NAF meeting we refer to the disease process as ataxia but the fact of the matter is that many of the disorders in this group (under the word ataxia) have several neurological abnormalities which are unrelated to cerebellar problems. We talk about many of the clinical signs. As a neurologist, I examine patients with ataxia and, in addition to ataxia; I find evidence of damage in many other parts of the nervous system. Many of the ataxias are genetic disorders where the genes work in different parts of the brain other than the cerebellum so it is very understandable that we are going to have trouble with other areas of the nervous system. The idea is to focus on a few of these. Some of these problems are treatable some of them probably deser ve better investigation so they can become treatable. Vision is an example. Many of the patients I see in the ataxia clinic have visual problems. These visual problems are not related to problems in the cerebellum in a direct way but are probably related in an indirect way. There is vision loss because the optic nerve is affected in some disorders among the group of ataxias. The best example of this is spinocerebellar ataxia 7 (SCA 7) where there is loss of

Page 28

Page 28 Symptoms Other Than Ataxia. Continued from page 27
lining up the eye muscles. Many patients with ataxia get abnormal eye movements which may cause visual problems. We often see abnormal pursuit when the eyes pursue an object and other abnormal eye movements called stigmas. A neuro-ophthalmologist is a doctor who is experienced in treating these eye movement disorders. Various forms of stigmas may cause these visual dif f iculties. Some types of treatments can be administered by a trained ophthalmologist. Dr ugs like Baclofen, Neurontin (gabapentin) and Diamox (anticonvulsant) have been used. They are not always applicable so you have to ask your ophthalmologist if these will be useful to you or not. Our study is not yet finished and we do not understand all the visual symptoms of patients with ataxia including diminished stereoacuity. We will pursue those studies. There are special types of lenses which combine a contact lens with a spectacle lens; the two of them together are able to stabilize the image in patients with abnormal eye movements. That might help vision in patients with these kinds of eye movement problems. There have been an array of reports of injecting botulinum toxin into eye muscles that may help these kinds of abnormal eye movements. Obviously every patient who has these kinds of visual problems has to be very carefully evaluated for this purpose. Another problem that we need to explore further in patients with ataxia diseases is cognation. Patients ask me if it is a memory problem or if there is a problem with the higher order cerebellar function in patients with ataxia. We know that not all types of ataxia are the same. In several disorders that we deal with there is a large component of behavioral changes in memory problems but many of them are not affected this way. We did look at this in some detail in a group of patients with
MJD. One of my neurophysiologists helped with this evaluation. He performed all kinds of neuropsychological testing. We have a naming test, the ability of a person to name objects, routine types of IQ tests, and tests that test your ability to, what we call change the set of thoughts, and reorder the way you do things. Memory, anxiety and depression tests are also administered. By using the Wisconsin card sorting test, we found that visual confrontation naming was mildly impaired in our patients with MJD. The Wisconsin card sorting test was in the normal range but when they had to name the color of the word instead of reading the name of the color they showed considerable impairment. Moderate anxiety and depression showed in our patients with MJD. There were also a number of cognitive behavioral changes that we saw in these patients. When you look at the literature there are a number of reports of cognitive changes in patients with SCA 1, 2, and 3. I will summarize what other people have found. Patients with this kind of ataxia usually have good attention they pay attention to the stimuli quite well. Their verbal memor y was usually impaired. There were other general features that were seen in patients with ataxia like restlessness, euphoria, and emotional labiality. The severe dementia, the type seen in Alzheimers disease, is ver y rare in ataxia diseases. Sometimes when you have a very early onset of some of the ataxic disorders, particularly the dominant disorders, you might see more of a dementia. It has been occasionally seen in SCA 2, 17 and very early childhood onset of MJD/SCA3, SCA 1 and SCA 7. More often patients with moderate disease have some abnormalities in verbal recall abnormal switching tests indicating what we call frontal exhibitor dysfunction. Its interesting that earlier my chemical studies SCA 1 brains and MJD brains have actually shown a reduction

Page 30

Page 30 Symptoms Other Than Ataxia. Continued from page 29
diseases. Action tremor can often be treated with a number of dr ugs, betablockers, Primadone or Mysoline, are drugs that may help with action tremor. Unfortunately, some of these drugs may make the ataxia worse. Olfaction, which is sense of smell and it turns out that there is considerable data that suggests that patients with Parkinsons disease and Huntingtons disease have impaired smell function. Preliminary data suggests a similar problem in ataxic diseases as well. There could be a problem with taste, for example, because olfaction in abnormal. Our speech pathologist has administered the University of Pennsylvania Smell Test with 12 patients who have SCA and only two showed normal results. Again, this has to be explored further. There have been a number of publications suggesting that this kind of smell dysfunction is not unusual in patients with ataxia. Many patients with SCA particularly MJD/SCA 3, SCA 1 and 2, may have this symptom called restless legs. Restless leg syndrome is characterized by unusual feeling in the legs which is relieved by movements especially at bedtime. It is often noticed by spouses rather then the patient. The spouses tend to go to a different bed because they get kicked out of bed by the person having the restless leg syndrome. One group reported that 45% of patients with MJD had restless legs. Another group reported a signif icant proportion of SCA patients across the board had restless leg syndrome. Again, this is important to recognize because this symptomology can be relieved. A small dose of some of the Parkinson drugs at bedtime can relieve restless legs and allow better sleep during the night. These are some of the treatable things that can happen in patients with ataxia. Peripheral neuropathy refers to the degeneration of nerves and occurs not uncommonly in
patients with SCA 1, 2 and 3 (MJD). Even though this was supposed to be a cerebellar disease many of these patients do have some degeneration of the nerves in the arms and in the legs. Their feet are a little numb and they lose the feeling in their feet that we can detect in clinical testing. FA patients actually have a major abnormality in peripheral nerves very early on. Even when they are present the peripheral nerves are abnormal for the most part. Most of the time we dont see a lot of peripheral neuropathy symptoms in these patients even though we can document the peripheral neuropathy in our conduction study. Some do complain about burning pain and tingling in the feet. These, again, may respond to drugs such as Neurontin and other similar drugs that are coming out on the market that may have some role to play in relieving those symptoms. Spasticity and dystonia are often seen in patients with ataxia. Spasticity is stiffness in the legs and difficult on the part of the examiner to manipulate the limps so they can respond to Baclofen, Xanax or Valium and we often use Botox. We have patients where we have actually put in a Baclofen pump in the back to release spasticity of the legs. One of the common features of the spasticity is what we call f lexor spasms where the legs jump at night (f lex again and again). We have seen a number of FA patients who experience this at night time and we have had the opportunity to put a Baclofen pump in. Two or three of these patients have had considerable relief of that symptom. In conclusion many but not all of the genetic and acquired forms of ataxia neurological deficiencies are unrelated to the cerebellum and these need to be characterized better. Therapies directed at these need to be tested in a nice way so that we can figure out what is the best way to manage many of these problems that patients with ataxia experience.

Page 32

Page 32 Genetic Analysis. Continued from page 31
ataxia because all of the members of this sevengeneration family that have ataxia have an elongated CTG repeat expansion. We refer to stretches of repeated DNA sequences, which this family as the MN-A family. In the MN-A have been found to be a fairly common cause family, individuals with longer repeat tracts of inherited ataxia. An analogy is that these (110 or more repeats) tend to develop ataxia long stretches of repeats found in ataxia genes whereas MN-A family members with fewer can be thought of as a needle in the haystack than 100 repeats tend not develop the disease. and our RAPID cloning method is a powerful When we look at DNA from people in the magnet that can be used to directly isolate general population without ataxia, nearly all the needle or the long repeat without having (over 99%) have between 16-50 CTG repeats. to sort through all the hay. This method is Although the length of the CTG repeat unlike more traditional genetic methods clearly plays a role in whether or not an indibecause it allows disease-causing vidual will develop ataxia, the genes to be isolated from a number of CTGs found in single individual. We used this affected individuals can differ technique to isolate the genes Even though a quite a lot between families. for both SCA7 and SCA8. In These differences could in part addition, we are continuing to CTG repeat and be due to a small series of CTA use this strategy to find novel repeats in the DNA that are a CAG repeat mutations in those families and found right next to the CTG individuals in which a genetic may sound repeat in the SCA8 gene. cause has not been identified. Actually, most laboratory tests similar, they are In search of a long CAG for SCA8 count the combinarepeat we found a CTG tion of CTAs plus CTGs rather biologically repeat. than CTGs alone. The number very different. When we began our search of CTAs doesnt var y from for ataxia genes using the person to person within a RAPID cloning method, we family, but is different between were looking for long CAG SCA8 families, and could repeats because that is what, at the time, had inf luence whether or not an individual with an been reported to cause other SCAs (SCA1, expansion is at a relatively low or higher risk of SCA2, SCA3, SCA6 and SCA7). However, for developing the disease. Further research in SCA8 instead of finding a CAG repeat - we other families affected with SCA8 has shown found a long CTG repeat! At first we didnt that individuals who are affected with ataxia think that the CTG repeat was likely to cause have had repeat sizes ranging from 71 to over ataxia. Even though a CTG repeat and a CAG 800 combined CTA/CTG repeats although the repeat may sound similar they are biologically majority of individuals affected with the SCA8 very different. It took a lot of time for us to be have 80 to 250 combined CTA/CTG repeats. sure that the CTG repeat actually does cause SCA8 expansions are a common cause ataxia. We named this newly discovered ataxia of sporadic ataxia. gene SCA8. Because a person needs only one copy of the The genetics of SCA8 is complicated. long CTG repeat in SCA8 to have ataxia, we initially expected to see a clear pattern We concluded that SCA8 CTG repeats cause

The Tampa Bay Area Ataxia Support Group held on meeting on May 21. The meeting, as usual, started out with a light lunch followed by a short business meeting. This meeting was especially important because it saw our President and Group Leader Nygel Lenz step down as leader and a new slate of officers take over. Nygel has done an exceptional job especially during this past year and a half preparing for the 2005 NAF Annual Membership Meeting. He is now looking to devote more time to other interests as they pertain to the NAF. Charlie Kirchner was named the new leader, Dave Hester is acting as the Vice President, Nygel Lenz is our new Treasurer and Craig Baker is our is our first ever webmaster. You can check out our site at http:// flataxia1.org. After the new officers were decided we broke into groups. The care givers held their own group discussion in a separate room. At the conclusion of their meeting they rejoined the group and discussions followed concerning a possible get together this Continued on page 40

Page 40

Page 40 Chapter & Support Group News Continued from page 39
summer. The group does not normally meet from June to August. On June 24, seven of our members met with the University of South Floridas School of Physical Therapy and approximately 30 of their students. Our ongoing relationship with them is a win-win situation as they learn from us and we learn from them. The physical therapy classes are led by Wendy Anemaet, MS, PT (some may recognize her from the 2005 NAF Annual Membership Meeting where she led a breakout session on physical therapy) and Jeanne Stephenson, MS PT. We welcome new people to contact us for information or to join the group. Visit http:// flataxia1.org to find out more. Chicago Area S.G.

By Craig Lisack

Center in Rosemont, IL. The group discussed helping cover some shifts in the booth at this show. Also discussed were additional ways for us to assist in fundraising efforts. The Chicago group will be conducting its annual pot luck luncheon and silent auction at the Sept. 18 meeting. This is our way of having some fun while raising operating funds for the next year. BC Ataxia Society
By Shannon Connors, President BCAS www.bcataxia.org
The July meeting of the Chicago area group featured an informative presentation by Dr Jennifer Goldman of the Movement Disorders Center of Chicagos Rush Medical Center. Twenty-eight members attended the meeting and found the presentation to be quite enlightening. Topics ranged from ataxia basics to genetics to ongoing research efforts. We are very grateful for the effort on Dr. Goldmans part and pleased with the excellent member turnout. NAF will be participating in the Abilities Expo Sept. 16-18 at the Stephens Expo

Chicago Area Support Group
Another year has come and gone and the BC Ataxia Society has a lot to be happy about! Along with our regular support group meetings held each month, we had two successful fundraisers, our annual Christmas Party and a Family Picnic. At our meetings, we had doctors from the UBC Neurogenetics Clinic, a speaker from a local caregivers group, a representative from a Medical Supply Company as well as speakers on Nutrition and Healthy Eating and Cooking Tips for people with disabilities. Our first fundraiser was a meat draw and pot roast dinner held at a pub in Langley, BC, in November of 2004. Along with the meat draw and raffles, a check was also presented to the BC Ataxia Society from the local Kinsmen Club. Our next fundraiser, the silent auction, was rescheduled from April to July of 2005. This was held at a pub in Richmond, BC and included 50/50 draws, over 100 donated auction items, a pasta buffet and live entertainment. It was well attended by over 85 people with lots of fun and laughs for all! We do not meet during the summer months; a decision at our September 2005 meeting will determine how to distribute the money that was raised. We also held a couple social nights at a new casino resort in Richmond, BC. One was held in February to help cure the winter blues and another in June to get together with a fellow ataxian visiting from Brazil. After meeting for dinner, few chose to gamble the night away,

Page 41

Attention Chapter and Support Group Leaders
Please remember to send in your Chapter and Support Group News Articles! It helps others know what is happening in their area and inspires them to get involved. The deadline to get your news into the winter issue of Generations is November 4. Contact information is on page 2.
International Ataxia Awareness Day
Many National Ataxia Foundation members were busy participating in International Ataxia Awareness Day (IAAD) on September 25. Some contacted local political representatives, planned awareness ceremonies, set up awareness booths, and others planned fundraisers such as golf tournaments and craft shows. If you held an activity for IAAD, please share it with us. Submit your articles and photographs for publication by November 4 for inclusion in the next issue of Generations. Thank you!
however live entertainment on both occasions was terrific and the whole ambiance was exciting and entertaining in itself. With being a new complex, it is also large and very accessible, making it an ideal spot when many are in wheelchairs. By the time this hits the news, we will have held our Annual Family Picnic for this year on Aug. 14. Hopefully, the weather will have cooperated, making it a great time for all. Our new season starts on Thursday, Sept. 29. A support group meeting is held at the Caring Place in Richmond, BC on the last Thursday of most months. Please refer to the Generations calendar for our meeting dates as well as our BCAS website for dates of upcoming events! Note that we do not hold meetings during July or August and December is our Annual Christmas Party. A speaker from a local government assistance program (CSIL) is scheduled to speak at our Oct. 27, 2005 meeting, with a wide variety of speakers being suggested for upcoming meetings. Please phone the BC Ataxia Society for more information at (604) 279-7037 or send an e-mail to info@bcataxia.org. We can also be reached at (604) 940-2988. Information can also be obtained on our new website, www.bcataxia.org. We welcome all those affected by ataxia to join us, whether it is patient, doctor, family, friend and/or caregiver!