Ge neratio ns

The Official Publication of the National Ataxia Foundation Volume 36, Number 3 Fall 2008 Iden tification of the Gene Respon sible for a Novel Form of Congenital Cerebellar Atax ia

By Alfredo Brusco, PhD University of Torino, Torino, Italy The following is a research summary of a grant funded by NAF for fiscal year 2007.

Congenital forms of ataxia are predominantly walking (15 months) with motor incoordination, non-progressive syndromes characterized by and unsteady gait. Brain MRI at two years hypotonia, developmental delay, and delayed revealed hypoplasia of the posterior fossa, and motor milestones that precede the typical hypotrophy of the cerebellar hemispheres and cerebellar symptoms. The role of the cerebellum the cerebellar vermis. The MRI was repeated at in certain cognitive functions and in particular six years and 10 years and did not show peculiar its connection to the frontal lobe are very changes. Mild dysmorphic features were anno - important for development of language and tated at six years; at eight years she showed a gait some cognitive tasks (Leiner et al. 1993). There - and limb ataxia, dysmetria and adiadochokinesia fore it is not surprising that children with with moderate mental retardation and visual cerebellar dysfunction typically show marked and spatial orientation disorders. Blood samples delay in language acquisition and other param- were obtained from the girl and her parents; eters of cognition such as planning strategies and a lymphoblastoid cell line (LCL) and a fibroblast attention. culture were established for the proband. Classification of congenital forms is still Written informed consent was obtained from un certain and difficult. Most patients with the parents for diagnostic and research purposes. pure non-progressive congenital cerebellar ataxia The patient come to our attention because have a sporadic form of unknown heredity and of an abnormal karyotype, with a de-novo, aetiology. apparently balanced, translocation involving In the present project we studied a 10-year- chromosomes X and 8: 46,X, t(X;8)(q24;q24.3). old girl affected by cerebellar ataxia, mild Using genomic DNA extracted from lympho - mental retardation, and facial dysmorphism. The symptoms appeared when the proband started Continued on page 3 Page 2 Generations Fa ll 2008

Please direct correspondence to: Gen erations Staf f: National Ataxia Foundation Julie Braun ...... Financial Director 2600 Fernbrook Lane, Suite 119 Sue Hagen ...... Patient Services Director Minneapolis, MN 55447-4752 Mike Parent ...... Executive Director Phone: (763) 55 3- 0020 Lori Shogren ...... Special Projects Coordinator FAX: (763) 55 3- 0167 Liz Werner ...... Outreach Coordinator Internet: www.ataxia.org Design, Production and Printing ...... Leader Printing E-mail: [email protected] Generations is published by the National Ataxia Foundation, Inc., Minneapolis, MN. Copyright 2008 by the National Ataxia Foundation, Inc. All rights reserved. We ask that other publications contact us for permission to reprint any article from Generations .

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

Annual Membership Meeting Research & Education (cont.) 2009 Annual Membership Meeting ... 16, 2 4- 29 The Role of P/Q Calcium Channel Fragments in SCA6 Pathogenesis ...... 18 Research & Education Generation of Improved Mouse Models Regulatory Analysis of Friedreich Ataxia of FRDA for Pharmacological Testin g ...... 19 Locus Using BAC Genomic Reporters ...... 5 Articles Phosphorylation of Ataxin-3 Implication for Cellular Localization and Viability ...... 5 Meet the New Staff Members at NAF ...... 4 The Role of the Human P/Q Type Calcium From the Desk of the Executive Director ...... 8 Channel in the Pathogenesis of Ataxia ...... 6 Life Planning – The Financial Piec e ...... 13 A Multicenter Pilot Study of the The Immune Response in the Ataxia Web-Based National Ataxia Database ...... 6 Associated with Gluten Sensitivity ...... 20 Effects of Polyglutamine Expansion Dr. Bronya Keats Retires on Activity of Ataxin-3, the from Position at LSUHSC ...... 30 Spinocerebellar Ataxia 3 Disease Protein ...... 7 Frequently Asked Questions Examination of the Underlying About Tissue Donation ...... 31 Mechanism of p53 Mediation of the Interview: Rebecca Cummings Baldwin, Ataxia-Telangiectasia Mutant (ATM) Author of “Three Wheels” ...... 32 Signaling Pathway ...... 9 Two Kyle Bryant Translational Development of Histone Deacetylase Research Grants Awarded ...... 47 Inhibitors as Therapeutics for FRDA ...... 11 Membership Topics Deranged Calcium Signaling in SCA3 Neurons ...... 12 Chapter and Support Group News ...... 33 Molecular Mechanism of NAF Merchandise ...... 37 Transcription Alterations in SCA1 ...... 14 NAF Chapters, Support Groups Molecular Characterization of Purkinje and Ambassadors Listings ...... 38 Cell Function in Mice Carrying Deletions Calendar of Events ...... 44 of the SCA8 Ataxia Locus ...... 17 Memorials and In Your Honor ...... 46 Fa ll 2008 Generations Page 3

Identification of the Gene .. . lymphoblast from the patient by RT-PCR. We Continued from page 1 also tested the expression of CUL4B and GRIA3, which were shown to be mutated in pa - cytes, we showed that X-inactivation was tients with mental retardation, although they are skewed. The proband’s inactive X-allele was at more than 200 Kb away from the breakpoint. inherited from the mother. This means, firstly, Both genes showed a normal expression in the that the active chromosome X underwent a patient’s LCL. 2) the breakpoint on 8q24.3 maps translocation in the paternal germline and sec - between exons 2 and 3 of a known gene, whose ondly, that a mutation in an X-linked recessive name is reserved. The breakpoint inactivates one gene can be excluded because in this case the of the two alleles, as shown by RT-PCR analy - father would have manifested the phenotype. sis: sequencing of the complete cDNA in the pa - Segregation analysis using the “Profiler tient’s LCL demonstrates the presence of a single Plus kit” (Applied Biosystems, 9 polymorphic transcript because a heterozygous polymorphism markers in the genome) confirmed paternity/ in the 3’-UTR of the gene was expressed from a maternity. single allele. Furthermore, no other nucleotide We performed FISH analysis on the patient’s substitution was present in the expressed allele, metaphase spreads with BAC/PAC clones ruling out the possibility of an autosomal reces - covering 8q24.3 (16 clones) and Xq24-25 (18 sive disease due to the translocation combined clones). The breakpoint was located in a region with a point mutation. of ~33 Kb on chromosome 8 and ~37 Kb on To verify if the translocation was associated chromosome X. with other cytogenetic abnormalities, we used We used a set of equally spaced forward and re - CGH analysis using a 244K chip (Agilent Tech - verse primers to amplify the breakpoint junctions nologies). No further genomic deletion/duplica - on the two derivatives. One couple of primers tion was revealed, proving that the translocation for each derivative allowed us to amplify the occurred without gross genomic losses. Overall junction fragments. Sequencing showed that the these data were necessary to exclude other breakpoint is located within two repetitive possible genetic causes of the disease, besides the elements both on chromosome 8 (MER4/AluJ) translocation. Finally, using Taqman Real-Time and X (SVA element); no homology is present at PCR we proved that in LCLs the mRNA levels the junction; a intergenic region of 500bp was of the gene are approximately one half of normal lost in the translocation on the X chromosome. controls. The identification of the precise breakpoint on In summary our work identified the break - both the chromosomes 8 and X showed that: 1) points of an X;8 translocation in a girl with no known gene is interrupted by the transloca - ataxia, cerebellar hypoplasia and mental retarda - tion on the X chromosome. The closest genes tion, and showed that the disease may be due are located approximately 110 Kb both upstream to a haploinsufficiency of one gene located on (THOC2 ) and downstream of the breakpoint chromosome 8. A mouse model for this gene is (BIRC4 ). Functional studies in yeast suggests available. The homozygous knock-out animals that THOC2 physically links proteins that func - are non-viable, but no phenotype or cerebellar tion in mRNA export or transcription, whereas anomalies were noted in heterozygotes. BIRC4 is a member of a family of proteins which However, the interrupted gene is important in inhibits apoptosis through binding to TRAF1 cellular adhesion, migration, and it was found to and TRAF2 proteins. We showed that the ex - pression of these genes is maintained in cultured Continued on page 4 Page 4 Generations Fa ll 2008

Identification of the Gene .. . the heterozygous animals structural cerebellar Continued from page 3 anomalies/heterotopies are present. 3) Finally we are collecting a group of 20 patients, all with be important for axon growth. To further char - cerebellar hypoplasia and mental retardation. acterize this disease at a molecular level and add These patients will be screened with CGH array proves to the involvement of the interrupted at high resolution (244K) to verify the presence gene in the disease we hope to proceed with the of genomic deletions/duplications that may following aims: 1) because the interrupted gene underlie their syndrome. By this approach we is important for cellular migration/cellular pro - may identify a novel patient with a genomic re - liferation, we will evaluate these aspects in the arrangement in 8q, confirming that the gene we fibroblasts of the patient compared to normal found interrupted is responsible for cerebellar controls; we also plan to evaluate the organiza - hypoplasia and MR, or more probably identify tion of actin fibres, that might be associated with new regions important in the pathogenesis of migration defects. These experiments may give congenital ataxias. further insight that link the genetic anomaly to This project has been also positively evaluated the phenotype. 2) We have started a collabora - by the Italian Association for the Study of tion with the group that developed the knock- Ataxias (AISA), which awarded us €5000 to buy out mouse model. Our aim is to verify if also in a Thermal cycler. O Meet the New Sta ff Members at NAF

Sue Hagen, Patient Services Director In her free time, Sue enjoys spending time out - In June 2008, Sue became the new Patient doors at her cabin with her husband, Arlan, and Services Director at NAF after serving as the toy poodle, Poochie. organization’s Outreach Coordinator since April 2007. She brings with her a passion for helping Liz Werner, Outreach Coordinator others and a long history of working in the non- Liz Werner became the Outreach Coordinator profit sector. at NAF in June 2008. In the office, Liz answers As the Patient Services Director, Sue handles and directs phone calls, fields questions about phone calls and e-mails from individuals who membership, distributes information, and have medical questions about ataxia. These assists other staff members with projects as include questions about a recent diagnosis, needed. Liz brings with her a background in pub - disease progression, genetic testing, medical lishing and looks forward to her responsibilities trials and tissue donation (to name a few). She of compiling and editing the Generations also maintains relationships with the organiza - newsletter each quarter. tion’s medical community and works closely with Though she has only been with the organiza - the NAF medical advisory board to facilitate the tion for a short time, Liz says her favorite thing research grant review process. One of Sue’s about working for NAF is the satisfaction she goals in her new position is to expand upon feels when providing ataxia patients and care - NAF’s neurological resource list to include more givers with needed information, support and neurologists who work with ataxia. Sue said that resources. the highlight of her time at NAF was attending When she is not at work, Liz enjoys running, the Annual Membership Meeting in Las Vegas playing tennis, traveling, and spending time with this past March. her 2 0- pound tabby cat, Harry. Fa ll 2008 Generations Page 5 Regulatory Analysis of Friedreich Ataxia Locus Using BAC Genomic Reporters Joseph P. Sarsero, PhD Murdoch Children’s Research Institute The following is a research summary of a grant funded by NAF for fiscal year 2007.

Friedreich ataxia is an inherited disorder of the Our overall aim is to identify and develop new nervous system and heart. The genetic defect pharmacological approaches for the restoration that causes Friedreich ataxia results in reduced of Friedreich ataxia gene expression and the levels of an essential protein termed frataxin in therapy of Friedreich ataxia. Using information all cells of the body. and resources generated as part of the Human Understanding the mechanisms that control Genome Project we have developed new the expression of the Friedreich ataxia gene may techniques to study human gene expression in enable the development of therapeutic applica - cellular and animal systems. A combination of tions by indicating ways in which to specifically computer analysis and lab-based experimen- target the increased expression of the Friedreich tation was undertaken to begin to decipher ataxia gene in persons with Friedreich ataxia. Friedreich ataxia gene control mechanisms. O Phosphorylation of Ataxin-3 Implication for Cellular Localization and Viability U. Wullner, MD, PhD University of Bonn The following is a research summary of a grant funded by NAF for fiscal year 2007.

In our work we focused on a process called importance for nuclear localization, thus only phosphorylation of the disease protein in SCA3, phosphorylated AT3 protein appears to get into ataxin3 (AT3), and whether one could work on the nucleus to form intranuclear aggregates this phosphorylation process to alleviate the dis - which are believed to be critical for the disease ease. Phosphorylation is a common modification SCA3 to develop. We hereby identified the of a protein, i.e. extra phosphor is added to the mechanism responsible for nuclear localization protein to govern intracellular trafficking or of AT3. Further, a particular enzyme called CK2 other functions. Proteins are not simply manu - was found to be responsible for the phosphory - factured and put into usage but modified like a lation process and inhibition of CK2 reduced car can be customized according to the buyers’ nuclear localization and aggregate formation. demand. Nothing has been known about phos - From here, we will try to optimize compounds phorylation of AT3. We identified the particular which can be used to inhibit this process in positions in AT3 which can be phosphorylated. animal models (fly and mouse) and could be Extra phosphor turned out to be of critical tested in SCA3 patients. O Page 6 Generations Fa ll 2008 The Role of the Human P/Q Type Calcium Channel in the Pathogenesis of Ataxia

Sian D. Spacey, MD The University of British Columbia The following is a research summary of a grant funded by NAF for fiscal year 2007. Ataxia is a disorder that has a significant and symptoms. quality of life and economic impact on affected We have demonstrated regional differences in individuals. P/Q-type Ca channels play a role in splice variants within the brain which further the normally functioning cerebellum. By study - support this hypothesis. Increasing our under - ing a genetic model of ataxia that results from standing of the pathological process involved in mutations in the P/Q type calcium channel, we EA2 and FHM will not only lead to therapeutic are able to determine the functional and molec - treatment for these conditions but will give us ular changes that lead to pathological changes in insight into the molecular physiology of the the cerebellum. cerebellum which may be applied to our under - We have investigated the interaction between standing and development of therapy of other splice variants of the P/Q type calcium channel forms of ataxic disease. and EA2 and FHM mutations. Our data We would like to thank the patients and demonstrates that the mutations have different families of the University of British Columbia biophysical consequences depending on the Neurogenetics Clinic. I would also like to thank isoform in which they are expressed. This Dr. Terry Snutch for his mentorship and Paul isoform specific interaction may be a potential Adams, my graduate student who contributed mechanism by which P/Q-type calcium channel significantly to the data. I would also like to mutations, which are widely expressed through - thank the National Ataxia Foundation for the out the brain, can result in a localized pathology operating grant for this research. O A Multicenter Pilot Study of the Web-Based National Ataxia Database

Susan L. Perlman, MD David Geffen School of Medicine at UCLA The following is a research summary of a grant funded by NAF for fiscal year 2007.

We have designed and built a secure database The system is highly secure, and fully HIPAA to store and manage the national research repos - compliant, protecting the confidentiality of itory for ataxia patient data. We have created patient information, while making it available to an easy-to-use web-based interface into the all researchers who are working toward a better database for study management, data entry, data understanding of the causes and treatments of validation, and data output. ataxia. O Fa ll 2008 Generations Page 7 Effects of Polyglutamine Expansion on Activity of Ataxin- 3, the Spinocerebellar Ataxia 3 Disease Protein Sue M. Travis, PhD University of Iowa The following is a research summary of a grant funded by NAF for fiscal year 2007. Spinocerebellar Ataxia 3, also known as activity, restricting what can be cleaved by the Machado-Joseph Disease (SCA3/ MJD), is one protease domain. Such a gating function would of several inherited neurodegenerative disorders allow ataxin-3 to localize to ubiquitin-rich struc - that are caused by the expression of mutant tures and selectively cleave complex ubiquitin proteins containing an expanded polyglutamine chains. (polyQ) region. SCA3 may be the most common These findings establish ataxin-3 as a novel dominantly inherited ataxia. The SCA3 gene linkage-specific DUB that edits topologically (MJD1 ) encodes ataxin-3 (AT3), an enzyme that complex chains, such as very long chains or het - may have a role in the ubiquitin/proteasome erotypic chains. These results raise the possibility protein degradation pathway. AT3 binds poly- that ataxin-3 functions in the cell to prevent ubiquitin molecules through its Ub interacting the accumulation of large, possibly aberrantly motifs (UIMs) and it cleaves these molecules structured, ubiquitin chains. Given this activity, through its Josephin protease domain. Two ataxin-3 is well suited to act at cellular sites with common forms of polyubiquitin are the K48- topologically complex ubiquitin microenviron - and K63-linked forms, and these have different ments such as aggresomes. O functions in our cells. K48 linkages are related to protein degradation, whereas K63 linkages are related to other cellular pathways in ways that are not well-understood. Getting Married? In these studies, we made important progress If you are getting married, you can support in understanding what substrates the AT3 pro - the National Ataxia Foundation by register - tein can cleave. Our results show that normal ing with the I Do Foundation . AT3 preferentially cleaves polyubiquitin chains From honeymoons to invitations to wed - ding gifts to charitable wedding favors, the containing five or more K63-linked Ub moeties, I Do Foundation allows couples and their and has slower activity toward K48 linkages. guests to make wedding-related purchases Interestingly, AT3 has vigorous activity toward that generate donations for charity. The I Do high molecular weight Ub aggregates of either Foundation’s charity registry service also chain linkage. In addition, it can cleave shorter makes it easy for guests to make donations in lieu of gifts. polyubiquitin chains with mixed K48-K63 link - All of these services are available free of ages, but it cleaves only at the K63 linkages. cost at www.IDoFoundation.org . Check it out We also learned more about how AT3 is regu - today, and be sure to select National Ataxia lated by its own UIMs, by studying mutant forms Foundation as the beneficiary of your chari - of AT3 that we made in the lab. Our results show table wedding. that the UIMs gate the linkage specificity of this Page 8 Generations Fa ll 2008

From the Desk of the Execu tive Director

“Finding more answers through each funded raisers, foundations, corporations, chapters/ research study” is the theme for the 2008 NAF support groups, deferred giving, stock donations, Annual Ataxia Research Drive. Over the years and others enable NAF to support meaningful the National Ataxia Foundation has funded and promising ataxia research. hundreds of important ataxia research studies • Research Applications : Through various which have established a pathway in finding NAF conferences, advertising in medical ataxia genes, better understanding of gene func - journals, information booths at various medical tion, and a clearer picture about the causation of conferences, networking with various universi - various forms of ataxias. ties, NAF’s Web site, and other means, NAF The National Ataxia Foundation is currently informs researchers throughout the world about reviewing more than 40 quality ataxia research NAF’s research programs. Detailed research studies from around the world. applications are completed by Researchers from Australia, Bel - researchers and submitted to gium, Canada, France, Germany, NAF for review. Hong Kong, Israel, Italy, Nether - • Review : NA F’s Medical and lands, Portugal, Spain, Sweden, Research Advisory Board and United Kingdom, and the United other experts in the field of ataxia States have submitted research research review and rate each proposals for consideration. The research application. Those ratings research emphasis for these are reviewed by a research sub - studies includes many of the committee who rank and priori - SCAs, Friedreich’s ataxia, Spo - tize each research application. radic ataxia, Episodic ataxia, A-T, • Award : The NAF Board of AOA, and others. Each of these Directors review the recommen - vital studies has merit and the Michael Parent dations made by the research most promising of these research projects will subcommittee and evaluate the rating, relevance, be funded later this year with your help. and the research dollars available to support The National Ataxia Foundation’s mission is specific research studies. The Board of Directors dedicated to improving the lives of persons makes the final decision on all research studies affected by ataxia through support, education, funded. and RESEARCH, Many have asked the ques - • Reporting : Researchers who are funded by tion, “How does the process work for the NAF NAF are required to submit to NAF periodic research program?” progress reports and a final report in both The National Ataxia Foundation currently has scientific and layperson terms. four ataxia research programs: NAF Research • Reporting to NAF Membership : Final Program, NAF Young Investigator Award, research reports on each NAF funded research NAF Research Fellowship Award, and the study are provided to the membership through Friedreich’s Ataxia Special Projects Award. Generations and on NA F’s Web site. In addition, Typical funding ranges per study from $25,000 a number of research grant awardees also provide to $200,000. presentations each year at NAF’s annual mem - • Funding : Support through the annual bership meeting. ataxia research drive, individual/family fund- The process in funding promising ataxia
Fa ll 2008 Generations Page 9 research for 2008 has begun. Research applica - Please give this important letter your full atten - tions from around the world have been submit - tion and send in your crucial donation in the ted and are now being reviewed by the NAF envelope provided. You may also make your Medical and Research Advisory Board. What research donation now by going online to still needs to be done is for each of us to support www.ataxia.org and clicking on donate. Both the 2008 NAF Annual Ataxia Research Drive. online donations and those through the appeal This annual research drive is so critical in letter enable you to designate your $100 or more supporting vital ataxia research. Too often, research donation for the type of ataxia research important and promising ataxia research studies you wish to support. are not fully funded or are unable to be funded We all have a real opportunity to make a because of lack of funding. Each of us today has significant difference in supporting promising an opportunity to make sure that does not ataxia research. Finding more answers through happen. Every research dollar, in any amount, is each funded research study, the number of important and we need your help. studies funded this year depends on you. Please Shortly, you will be receiving the 2008 NAF give as generously as you can to the 2008 NAF Annual Ataxia Research Drive appeal letter. Annual Ataxia Research Drive. Thank you. O Examination of the Underlying Mechanism of p53 Mediation of the Ataxia- Telan giectasia Mutant (ATM) Signaling Pathway Hayla K. Sluss, PhD University of Massachusetts Medical School The following is a research summary of a grant funded by NAF for fiscal year 2007. The rare disease ataxia-telangiectasia (A-T) is a telangiectasia mutant (ATM) protein was identi - complex disease with multiple clinical symp - fied in 1995. The protein was found to be an en - toms. The symptoms of A-T include cerebellar zyme which can direct the addition of phosphate ataxia (defective motor skills), oculocutaneous to other proteins. This event, called phosphory - telangiectasias (small veins in eye region), sensi - lation, is a fundamental mechanism by which tivity to ionizing radiation, thymic degeneration cells can transduce signals received outside a cell and immunodeficiencies, recurrent sinopul - into a final biological output within the cell. monary infections, high incidences of lymphoma The target proteins of ATM for phosphoryla - and leukemia, growth retardation, incomplete tion include the p53 tumor suppressor. The sexual development, and progeric changes to hair connection of ATM to p53 is more significant in and skin (premature graying). the context that A-T patients have increased The prognosis for patients is very poor. Most susceptibility to cancer. An important question affected individuals will die before or in their is what phenotypes associated with loss of ATM twenties. There is currently no cure for A-T. function are because p53 can no longer be phos - An understanding of the biology of A-T was phorylated by ATM. In other words, does the facilitated by the identification of the gene involved in this genetic disorder. The ataxia- Continued on page 10 Page 10 Generations Fa ll 2008

Examination of the Underlying Mechanism .. . We have begun to address that question by Continued from page 9 utilizing genetic manipulation to create a mouse model in which the ATM site of phosphoryla - site of phosphorylation of p53 by ATM regulate tion in p53 is absent. This mouse model could ATM-dependent tumor suppression and control potentially mimic the mouse model whereby over motor function? The role of these phos - ATM is deleted. The p53 phosphorylation de - phorylation events on p53 has been facilitated fective mice, interestingly, have several charac - by the creation of mice which contain mutation teristics of animal and cells deficient in ATM. of these phosphorylation sites. Mice deficient The research plan supported by the National in two major sites of phosphorylation, Serine 18 Ataxia Foundation enabled us to look at the and Serine 23 have been generated. These interaction of loss of ATM and the presence of animals could potentially mimic the mouse mutation of p53Ser18 in a mouse model of model whereby ATM is deleted. tumorigenesis. We found that the double mutant The research plan outlined here is to investi - mice did not develop tumors any faster than gate this site phosphorylation in ATM-depen - ATM null mice. Therefore, this lack of synergy dent tumor suppression by making double suggests that there is a linear pathway in these mutant mice carrying the ATM deficiency and functions. Interestingly, changing the status p53 phosphorylation deficiency. The tumor of p53 did affect the tumor outcome of ATM onset of these mice will be determined and com - null mice. pared to the single mutants to determine if there In addition, we performed motor control tests is any synergy between the mutations. Finally, we on the p53 phosphorylation defective mice to will perform motor control tests on the p53 test whether they have the same locomotor phosphorylation defective mice to test whether defects found in the ATM deficient mice. We they have the same locomotor defects found in also found another surprising result. P53Ala18 the ATM deficient mice. mice were better than wildtype mice in a rota These experiments will help look at the rod test. This suggests that p53Ser18 may be underlying mechanism of neurodegeneration negatively regulating p53 function in neurolog - and tumor formation in ATM deficient mice. ical processes. We hope that as a model for the A-T disease our Further experiments will help confirm that findings will help improve our understanding of possibility of this interaction in helping relieve the molecular function of ATM in A-T disease. the neurological symptoms found in A-T. O Research Subjects Needed Research subjects are being sought for a Those willing to participate must have a study of changes in memory, thinking and deci - diagnosis by gene test of one of the following: sion-making skills in patients with SCA. The SCA 1, 2, 3 (Machado-Joseph disease), 6, 7, 8, study is being conducted by Dr .’s S .H. Subra - 10, 12, 13, 14, and 17. Patients who are diag - mony and Vicki Soukup at the University of Texas nosed as such without a gene test but based on Medical Branch, Department of Neurology, 301 a diagnosis of other family members will also be University Blvd., Galveston, TX 7755 5- 0539. considered. The research involves the patient and a close If interested, please contact Dr. Subramony family member or caregiver filling out question - at the above address or by phone at (409) 77 2- naires that may take about an hour to complete. 2646 for more information. Fa ll 2008 Generations Page 11 Development of Histone Deacetylase Inhibitors as Therapeutics for Friedreic h’ s A taxia Elisabeth Soragni, PhD The Scripps Research Institute The following is a research summary of a grant funded by NAF for fiscal year 2007. Friedreich’s ataxia is caused by malfunctioning possibly involved in frataxin gene repression and of the FXN gene encoding the essential protein are likely targets of our molecules. frataxin. This defect is caused by the expansion of It is probable that many other proteins are a simple repetitive DNA sequence in the gene involved in the repression of frataxin. We used (GAA), which causes the gene to shut down. the GAA repetitive DNA as bait to identify pro - Our laboratory has showed that this repression teins that, interacting with it, initiate the cascade is due to specific modifications of proteins that of events that ultimately results in silencing the bind DNA (histones). It is well known that these frataxin gene. We identified a protein that could modifications are associated with repressed genes be an important player in this process thus being and can be reversed by the use of small molecules the target for new therapies. O that inhibit the enzymes (called histone deacety - lases or HDACs) responsible for such modifica - tions, hence reactivating gene function. We Goo dSearch have previously shown that a new class of such small molecules can indeed restore frataxin gene Did you know that using GoodSearch for Internet searches provides donations to expression in cell culture. NAF? GoodSearch recently added online Our studies now are aimed at the development shopping to their site, with a donation made of our molecules as therapeutics for Friedreich’s to the Foundation with every purchase. ataxia. First we analyzed the minimal dose nec - Visit www.goodsearch.com today to see essary to restore functioning of the frataxin gene how easy it is to start making a difference. and the dose and time of exposure necessary to achieve maximal activation. These experiments give important guidelines on the dosing regimen to be used in animal studies and clinical trials iSearc hiGive on derivatives of our molecules to be performed by Repligen Corporation, the company that iSearchiGive.com is a new search engine powered by Yahoo! Search and iGive.com , licensed our molecules. the internet’s first online shopping mall Another important issue for the improvement where a portion of each purchase is of our molecules is the identification of their donated to a charity of your choice. target enzyme to improve their specificity, hence Please sign up today by visiting iSearch their effectiveness, and possibly reduce toxicity. iGive.com and designate the National Ataxia Foundation as your favorite cause. Using a technique that is able to repress gene The service is totally free and provides function using small RNAs, we were able to financial support for the important work of show that if we block the expression of two the Foundation. HDAC enzymes, we are able to increase frataxin Thank you for searching and shopping. gene expression. Thus these two HDACs are Page 12 Generations Fa ll 2008 Derang ed Ca lcium Signali ng in SC A3 Neu rons

Ilya Bezprozvanny, PhD University of Texas Southwestern Medical Center at Dallas The following is a research summary of a grant funded by NAF for fiscal year 2007. During the last three years, with support from walking and footprint, we found that dantrolene the National Ataxia Foundation, we focused on significantly improved the performance of the analysis of connections between calcium sig - SCA3-YAC-84Q mice. The neuroanatomical naling and degeneration of SCA3 neurons. This analysis revealed that SCA3-YAC-84Q mice fed project is based on our discovery of association with dantrolene had higher brain weights than between mutated ataxin-3 and type 1 inositol 1, control SCA3 and wild type mice. Stereological

4, 5-trisphosphate receptor (Ins P3R1), which is counting demonstrated that dantrolene has an intracellular calcium (Ca 2+) release channel. In neuroprotective effect and can prevent neuronal biochemical experiments we demonstrated that loss in pontine nuclei (PN) and substantia nigra mutant ataxin-3 binds to Ins P3R1. In functional (Sn). experiments we demonstrated that mutant Our results indicate that deranged calcium ataxin-3 makes Ins P3R1 more active. Impor - signaling may play an important role in SCA3 tantly, wild type ataxin-3 (without CAG pathology and calcium stabilizers such as dantro - expansion) does not bind to Ins P3R1 and does lene can prevent or slowdown the progress not activate it. Obtained results provided strong of SCA3, thus may be considered as potential support to our hypothesis that excessive Ca 2+ therapeutic drugs for treatment of SCA3/MJD1 signaling may be a cause of neuronal death in patients. In addition, we also established the SCA3 neurons. To test this idea, we cultured relevance of our results for SCA3 patients. neurons from either pontine nuclei or substantia By measuring the calcium levels of primary nigra, which are the most affected brain parts of fibroblasts from a healthy individual and a SCA3 SCA3/MJD patients, using SCA3-YAC-84Q patient, we found that SCA3 fibroblasts had 2+ transgenic mouse model. Since the culture den - potentiated Ins P3R-mediated Ca release, which sity of pontine neurons was too low and neurons is consistent with our former data. from substantia nigra were not homogenously All the above studies were partially supported dopaminergic, we could not further set up by the grant from National Ataxia Foundation. the “in vitro model,” which is to measure the With support from NAF we were able to gener - deranged calcium release by calcium imaging ate preliminary results for recently funded NIH technique and to quantify the apoptosis of R01 grant (NS056224) focused on the role of neurons by TUNEL staining. To avoid this issue, Ca 2+ signaling in SCA3 and HD pathogenesis. we decided to perform the experiments at the With support from the NIH we will continue whole animal level. our research on molecular causes and potential We fed SCA3-YAC-84Q mice with dantro - treatment of SCA3. lene, a clinically relevant stabilizer of intra-cellu - We are very thankful to NAF foundation for lar calcium signaling at the dosage of 5mg/kg support of our research program and helping us twice a week. By the behavioral assays of beam to get SCA3 project off the ground. O Fa ll 2008 Generations Page 13 Life Planning – The Financial Piece Planning For the Financial Future of A Person With A Disability

By Arnie Gruetzmacher This is the fourth part of a five-part series of articles regarding the Life Plan. Arnie has spent the last 27 years working with families of persons with a disability assisting them in preparing a Comprehensive Life Plan. If you have any questions regarding financial/estate planning, please e-mail or address the Editor and Arnie will reply in our next issue or contact you directly. Family Estate planning, especially when you family member faces divorce, bankruptcy or have a loved one with a disability, creates many other serious financial matters. questions and challenges. Do any of these ques - Government and public assistance programs tions sound familiar? are there to provide room and board, basic 1) How do I leave money for my medical, as well as, marginal day to child/grandchild who has a disabil - day personal care needs. While ity and not cause them to lose their these benefits are very important, public benefits? anything over and above standard 2) How will I know the money care is what you and I call Quality I leave is carefully managed after I of Life needs. A quality of life die? that most Americans take for 3) How can I be sure other fam - granted is buying birthday and ily members will not be burdened holiday gifts for families and in caring for our loved one with a friends, going out to eat, to a disability? movie, taking a vacation or going 4) What is fair in dividing up my to an amusement park, and even estate for my child with a disability having a warm winter coat and and my other children? Arnie Gruetzmacher boots. Quality of life, as we know 5) How much will it cost to provide a contin - it, cannot exist when your only means of support uous quality of life for my son/daughter with a is governmental assistance and maybe a low- disability? paying job. 6) Last, but not least, where will this money 1) The simple answer to all of these questions is come from? What if I don’t have a large estate? to develop a Supplemental Needs Trust (SNT). Public programs available for people with 2) A SNT will manage designated money for disabilities do not provide enough resources for someone who may not be able to do it for them - your son/daughter now, nor in the future. Where selves. The SNT will be a safeguard to protecting is the quality of life as you and I know it? It is government benefits such as SSI, Medicaid, not fair to have your other children provide these SSDI, public housing, or other programs for the resources for their sibling with a disability. person with a disability, and at the same time will Family problems often arise in situations when provide extra funds for fun and recreation. siblings are asked to manage a portion of an 3) The Supplemental Needs Trust will be inheritance that was meant for their brother or managed by a trustee that you have chosen who sister with a disability, especially if that inheri - tance pushes them into a higher tax bracket or a Continued on page 14 Page 14 Generations Fa ll 2008

Life Planning – The Financial Piece provide the quality of life your loved one with a Continued from page 13 disability will need. OK, the next question is, where will that will make sure the quality of life your son/ money come from? How can you fund the SNT daughter deserves. without sacrificing your other financial goals of How much will it cost to provide a quality college, retirement, and other financial needs? life for my son/daughter with a disability? At It is not as hard as you think. One possible way Disability Planning Specialists , our experience has to fund the SNT is with an insurance policy shown that the average supplemental monthly depending on the balance of your estate, current income needed varies from $200 to $500. needs, retirement funding, other family mem - Assuming you use conservative interest and bers needs and of course, your loved one with a inflation numbers, the amount needed for the disability. trust could be $200,000 to $400,000. We can The next issue will include the final piece of help you determine a realistic estimate of costs to your plan, titled “Plan Management.” O Molecular Mechanism of Transcription Al terations in SCA1

Marija Cvetanovic, PhD Northwestern University The following is a research summary of a grant funded by NAF for fiscal year 2007.

Polyglutamine diseases, which include Hunt - earliest detectable SCA1 phenotype. Further - ington disease, dentatorubral-pallidoluysian more ataxin-1 has been shown to interact in atrophy (DRPLA), spinal and bulbar muscular mammalian cells with transcriptional regulators atrophy (SBMA), and the spinocerebellar ataxias such as HDACs, SMRT, NCoR, Gfi1, capicua (1-8) are autosomal dominant neurodegenerative and LANP. We hypothesized that these interac - disorders caused by the expansion of glutamine tions might be the key reason for different repeats inside the respective disease causing susceptibility of cells to ataxin-1 toxicity. proteins. In spite of broad expression of ataxin-1 Of the transcriptional regulators ataxin-1 – the protein mutated in SCA1 – neurodegener - interacts with LANP is the one predominantly ation typically affects the cerebellum, with expressed in Purkinje cells-the cells primarily cerebellar Purkinje cells particularly vulnerable. affected in SCA1. We have discovered that Although it is clear that ataxin-1 causes the dis - ataxin-1 can harness the repressive functions of ease, little is known about molecular mechanisms LANP in two different reporter systems designed that render ataxin-1 toxic. Several reports have to monitor ataxin-1 repression: suggested that ataxin-1 plays a role in the regula - 1) On a Gal-4 responsive promoter, the tion of gene expression. For example, genetic repression of ataxin-1 fused to the Gal4 DNA studies in mice have shown that ataxin-1 nuclear binding domain is synergistically enhanced by localization is required for the development of LANP disease and alterations in gene expression are the 2) On the transcriptional co-activator,  Fa ll 2008 Generations Page 15

CBP responsive promoter ataxin-1 inhibition is similarly enhanced by LANP. In addition, we have also discovered that ataxin-1 also has a significant influence on LANP’s repression on its target genes. Specifi - cally, we have identified the transcriptional repressor E4F as a LANP interactor and shown that LANP increases E4F-induced repression. Fig. 2.The amount of LANP bound to E4F Taking advantage of a reporter construct engi - is reduced in the presence of mutant ataxin-1. neered to monitor E4F mediated repression, we Co-precipitation of LANP with S-beads was could demonstrate that LANP is necessary for performed in HeLa cells transfected with the indicated constructs E4F recruitment, and that this function of LANP is interfered with my mutant ataxin-1 LANP bound to the E4F target promoter (Figure 1; lane 3). This repression of E4F could reduces to almost undetectable levels when once again be restored by adding exogenous ataxin-1 is present. LANP (Fig. 1; lane 4) suggesting that ataxin-1 The observations that ataxin-1 relieves repres - titrates endogenous LANP away from E4F. sion induced by LANP (at the E4F responsive promoter) , and conversely LANP potentiates ataxin-1 repression (such as those regulated by CBP) suggest that by the mutant ataxin-1/LANP interaction might cause a mixed picture of tran - scriptional aberrations – relieving repression on some target promoters and potentiating repres - sion on others. These findings could help explain the reported up-and down-regulation of specific transcripts in SCA1 mice. We are now studying whether the ataxin-1/LANP interaction con - tributes to the toxicity in SCA1. These studies could provide clues to therapeutic strategies. Fig. 1. Ataxin-1 relieves E4F induced inhibition. N2A cells were transfected with the indicated We would like to thank NAF, without whose constructs. E4F induced repression relieved by support our research would not be possible. ataxin-1(compare histograms 3 and 2; p<0.05), This research was recently published in EMBO could be restored by adding exogenous LANP reports: Cvetanovic, M., Rooney, R.J., Garcia, (compare histograms 4 and 3; p<0.05). Ataxin-1 and LANP alone are shown as controls in J.J., Toporovskaya, N., Zoghbi, H.Y., and Opal, histograms 5 and 6. P. The role of LANP and ataxin-1 in E4F- mediated transcriptional repression . Embo Reports To test whether mutant ataxin-1 and E4F 2007, 8: 671-677. O compete for the available LANP we performed co-precipitations of E4F and LANP in the presence or absence of mutant ataxin-1 (Fig. 2). The amount of LANP bound to E4F was signif - Matching Gifts icantly reduced when ataxin-1 was present Many employers will match your gift to supporting our finding that ataxin-1 successfully NAF. Please ask your employer if they have competes with E4F for LANP. a Matching Gifts Program. We have also discovered that the amount of Page 16 Generations Fa ll 2008

The NAF Board of Directors along with the Seattle Ataxia Support G roup and the Ataxia Society of Vancouver, Canada would like to invite you to attend the National Ataxia Foundation 52nd Annual Membership Meeting Ma rch 20-22, 2009 (Leadership Meeting March 19)

The Doubletree Hotel – Seattle Airport is pleased to provide the facilities for the 2009 National Ataxia Foundation Annual Membership Meeting. Rooms are available for the special group rate of $139 per night. Please be sure to make your reservations by February 16, 2009 in order to secure the special group rate. If rooms are available, the special group rate will be extended three days before and three days after the meeting dates. There were a limited number of ADA rooms available on a first-come, first-serve basis in our group block. All of these rooms are now reserved at the Doubletree Hotel Seattle Airport. We do still have a small block of ADA rooms at the Hilton Seattle Airport. Scheduled transportation will be provided for NAF conference attendees to and from the Hilton and the Doubletree. To reserve an ADA room at the Hilton Seattle Airport or to put your name on our ADA room waiting list, you must contact the National Ataxia Foundation at (763) 553-0020 . Shower chairs, tub bars and toilet frames will be available on a first-come, first-serve basis by contacting the Doubletree Hotel and Hilton Hotel front desk upon check-in. To book your stay online, go to http://doubletree.hilton.com/en/dt/groups/personalized/CTAC-DT- NAF-20090316/index.jhtml , or if you would prefer to make your reservations by phone, please call toll-free 1-800-222-TREE and ask for the NAF conference special rate (Group Code: NA F). Please visit our Web site, www.ataxia.org , for the conference agenda and watch for the 2009 AMM Registration Form in the Winter 2008-09 issue of Generations. We look forward to seeing you in Seat tle! Fa ll 2008 Generations Page 17 Molecular Characterization of Purkinje Cell Function in Mice Carrying Deletions of the SCA8 Ataxia Locus Michael D. Koob, PhD University of Minnesota The following is a research summary of a grant funded by NAF for fiscal year 2007. Spinocerebellar ataxia type 8 (SCA8) is caused from the National Ataxia Foundation has by a mutation in the DNA of SCA8 patients, but allowed us to begin to understanding the precise the precise relationship between this mutation molecular function of the Klhl1 protein in and ataxia is complex and poorly understood. We Purkinje cells. We have now determined that have shown that the protein made from the gene the Purkinje cells in the Klhl1-knockout mice that is closest to the SCA8 mutation, which is communicate with other cells in the cerebellum called the KLHL1 gene, is only present in cells in a very unusual manner and that these com - in the brain. In order to determine what func - munication defects are the underlying cause of tion this protein has in these cells, we engineered the loss of coordination in these mice. In other mice in which we removed this gene. We found studies, we found that most important function that removing only one of the two copies of the of the Klhl1 protein is to regulate the stability of Klhl1 gene normally present in mice causes mice other key proteins in the Purkinje. The improper to walk in an abnormal way, to progressively lose regulation of these target proteins in turn causes coordination, and to have significant deficits in the Purkinje cell communication errors that we the part of their brain that typically degenerates see in the Klhl1-knockout mice. in ataxia patients (i.e., the cerebellum). Although we are still working to completely We also engineered mice in which we removed understand which of the Klhl1 target proteins are this gene only in a critically important type of cell most important for maintaining movement co - in the cerebellum (i.e., Purkinje cells). These ordination, these findings are a key breakthrough mice have all of the same abnormalities as the in our understanding of what is likely to cause mice in which we deleted the gene in all of the SCA8 at the molecular level and would not have cells in their body. This tells us that the most been made without NAF support. O important functions of the Klhl1 protein with regards to maintaining normal movement coordination are in these Purkinje cells in the cerebellum. CFC Number We predicted from these experiments that the The National Ataxia Foundation’s Com - mutation that causes SCA8 ataxia in humans bined Federal Campaign (CFC) number is may be working through a mechanism involving 10752. This program provides a convenient the loss of KLHL1 activity in Purkinje cells, and way to donate to the Foundation, and pro - vides great benefit to those with ataxia. that loss of proper expression from even one of Please give as generously as you can and the two copies of the KLHL1 gene would be please ask your co-workers to also give to sufficient to cause disease. the National Ataxia Foundation. The generous financial support we received Page 18 Generations Fa ll 2008 The Role of P/Q Calcium Channel Fragmen ts in SCA6 Pathogenesis

Yuanxin Hu, PhD The University of Chicago The following is a research summary of a grant funded by NAF for fiscal year 2007. SCA6 is a neurodegenerative disease charac - The recent findings have shown that CACNA1A terized by the selective loss of Purkinje cells, protein, the pore-forming subunit of P/Q type which are a kind of nerve cell found in cerebel - channel is cleaved, or cut. In people with SCA6, lum, a part of the brain. In all cells, there are spe - CACNA1A is mutated with polyglutamine. cialized proteins or groupings of proteins celled This mutated, cleaved protein fragment can ion channels, which form pores in cells’ surfaces move to the nuclei and contribute to a chain of and allow ions, charged ions, atoms or molecules, events that cause cell death. to move across the cell membrane. This is espe - The aim of our study is to identify the toxic cially important in nerve cells because ions play role played by the mutated CACNA1A cleaved a critical role in regulating their functions. fragment. This will allow us to determine how it Many neurological disorders result from the leads to Purkinje cell loss and degeneration in dysfunction of ion channels; for example, epi- SCA6 patients. To achieve that, we need to fig - sodic ataxia, familial hemiplegic migraine, Lam - ure out where the CACNA1A is cut to produce bert-Eaton myasthenic syndrome, Alzheimer’s disease, Parkinson’s disease, is the result of the the fragment. Once that is accomplished, we can dysfunction of voltage-gated calcium, sodium, further characterize the fragment and its toxic and potassium channels, et al. SCA6 results from effect on the SCA6 pathogenesis. a mutation in a type of calcium channel, found To determine where the CACNA1A protein in the neurons, like Purkinje cell of cerebellum. is cut and how it is involved in cell death in Previous studies have concentrated on the dys - SCA6, we have studied the fragment cutting site function of the calcium channel, but, until now, by purify the cleaved protein and sequence, and the available data have not been conclusive, and using the fragment to make stable cell line and there was no sufficient evidence to show that. transgenic mice (genetically altered). Both of our cellular model and transgenic mice model are successful, whose phenotypes and behaviors are E-mail Addresses consistent to and matched with those from SCA6 patients. Wante d! Our data suggest that the SCA6 pathogenesis is E- mail blasts from the National Ataxia caused by the mutated, cleaved fragment. We are Foundation are sent out periodically on now working on the molecular mechanism of ataxia research, events and other timely SCA6 pathogenesis, which will show how the issues of interest regarding ataxia. Please email your e-mail address to mutated cleaved gene product causes cell loss and juli [email protected] so you don’t miss out on degeneration in SCA6 patients, and will be in - receiving important information. valuable in the designing and screening of drugs for treatment of the disease. O Fa ll 2008 Generations Page 19 Generation of Improved Mouse Models of Friedreich Ataxia for Pharmacological Testing Joseph P. Sarsero, PhD Murdoch Children’s Research Institute The following is a research summary of a grant funded by NAF for fiscal year 2007. Friedreich ataxia is an inherited disorder of the of therapeutic options that may depend on nervous system and heart. The genetic defect overcoming the specific effects of each disease- that causes Friedreich ataxia results in reduced causing mutation. levels of an essential protein termed frataxin Accurate ‘humanized’ mouse models of disease in all cells of the body. Using information are designed to contain an entire human gene of and resources generated as part of the Human interest and surrounding regulatory regions, and Genome Project we have developed new tech - also harbor the specific disease-causing mutation niques to study human gene expression in cellu - as found in patients. Such mice do not only man - lar and animal systems. Our aim is to identify and ifest the main traits or symptoms of a disorder, develop new pharmacological approaches for the but also provide the correct underlying molecu - restoration of Friedreich ataxia gene expression lar cause of the disease as found in patients. and the therapy of Friedreich ataxia. We have made significant headway in the Prior to evaluating new therapies in patients generation of humanized mouse models of it is important that they be tested in appropriate Friedreich ataxia containing the entire human biological models of the disease. Animal models Friedreich ataxia gene with a disease-causing of human disease that are generated by the alteration. We shall continue to improve our ‘knockout’ of specific genes often manifest the current Friedreich ataxia mouse model so that it main traits or symptoms of the corresponding more accurately reflects appropriate disease human disorder. Thus they have proved invalu - symptoms. We shall then test newly identified able in the understanding of the role of various pharmacological agents on these improved genes and the development of many therapeutic mouse models. Any compounds which are able strategies. However, such models rarely recapit - to alleviate the symptoms of Friedreich ataxia in ulate the precise molecular cause that underlies the mice have a great chance of acting in a posi - human disease, thus limiting the development tive manner in persons with Friedreich ataxia. O

How Did You Celeb rate Inte rna tional Ata xia Aw areness Day? The Ninth Annual International Ataxia Aware - proclamations so the entire NAF family can ness Day on September 25 is now history, but relive a day set aside for the important mission your stories on how that day was celebrated of bringing ataxia to the forefront. and recognized could live on in a future issue of Please send information by mail to NAF, 2600 Generations . Fernbrook Lane, Suite 119, Minneapolis, MN Please send us your articles, photos, and 55447-4752 or e-mail li z@ ataxia.org . Page 20 Generations Fa ll 2008 The Immune Response in the Ataxia Associated with Gluten Sen sitivity By Armin Alaedini, PhD The following was presented at the 2008 NAF Annual Membership Meeting in Las Vegas, NV and edited for publication in Generations. The first thing that I want to start with is to a gluten sensitivity test, it will be tested by ELISA define a few terms. You’ve been hearing about for antibodies to gluten. Gluten sensitivity gen - gluten, but what exactly is gluten? It’s not just erally manifests itself as celiac disease (which has one protein; it’s a number of proteins. These are historically also been called gluten sensitive the storage proteins of wheat that give dough its enteropathy), which is an autoimmune disease. gooey and cohesive nature. If you take some Its primary target is the small intestine. The treat - dough and put it under a stream of water and ment for celiac disease seems easy; it’s a lifelong wash it for 10 to15 minutes you will end up with gluten-free diet. But it’s really not easy because this gooey orange thing, which is mostly gluten. gluten is in everything these days, including even It’s made up of about 100 different proteins that ice creams and salad dressings. So it is not easy to have similar sequence and biochemical proper - stick to a gluten-free diet. ties. The glutens are high in glutamine and pro - Celiac disease is the result of genetic, environ - line amino acids. If you take gluten and separate mental, and immunologic components. Its the proteins by gel electrophoresis, you will get a genetic disposition is primarily linked to specific pattern from the highest molecular weight to the molecules which are called HLA (human lowest molecular weight – a range of between lukocyte antigen), specifically DQ2 and DQ8. 110 kilodaltons and about 35 kilodaltons. These molecules are involved in seeing the Glutens are separated into gliadins and glutenins, gluten that is in the intestine, processing it, and so when you hear about anti-gliadin antibodies presenting it to T-cells and basically driving the those are part of the anti-gluten antibody reper - immune response to gluten. toire. Most of the research on gluten sensitivity has been done with gliadin so when I am talking Celiac disease is usually preceded by some kind about the anti-gluten immune response some - of stressful event, for example a gastrointestinal times the term is used interchangeably with infection or even pregnancy. It does involve both gliadin. the innate immune response, which is the non- So what is gluten sensitivity? It’s defined as a specific immune response, as well as the adaptive state of heightened immune response to ingested immune response, which is the specific immune wheat gluten and the related proteins in rye and response to gluten. The specific adaptive immune barley. The proteins in rye and barley are very response involves the anti-gluten antibodies as similar to gluten and they are involved in gluten well as gluten-specific CD4 T-cells and anti- sensitivity. Although they do have their own bodies to an enzyme called transglutaminase 2. names we are going to refer to them as gluten. The classic symptoms of celiac disease are Gluten-sensitivity is defined by the presence of diarrhea, abdominal pain and weight loss. In the antibodies to gluten proteins, which are detected past those were believed to be the prominent by ELISA (enzyme-linked immunosorbent symptoms of celiac disease. But it is increasingly assay). If you get your blood drawn and you want being realized that celiac disease is really a  Fa ll 2008 Generations Page 21 multi-system disorder which involves a lot of dif - idiopathic sporadic ataxia and gluten sensitivity ferent extra intestinal manifestations including – showing that anti-gluten antibodies are ele - skin disease, bone disease (osteoporosis), anemia, vated in significantly higher numbers in sporadic endocrine disorders like type 1 diabetes, and ataxia patients in comparison with normal thyroiditis, as well as malignancies. And last but controls. Most of these studies are with sporadic certainly not least, are the neurologic deficits. ataxia, but there are a couple of reports that Some of these extra intestinal manifestations, show elevated anti-gliadin antibodies in SCA-2 of course, are related to celiac disease because of patients. The patients with gluten sensitivity usu - nutritional deficiencies; other ones are because ally present with progressive ataxia of gait, stance of genetic linkage (for example the endocrine and limbs, [while] speech difficulties and ocular disorders), and other ones are because of motor deficits have also been reported. So there immunologic factors. The neurologic complica - is nothing really specific to gluten-ataxia or tions of celiac disease are not rare; they’re actually celiac-ataxia. This is, a lot of times, accompanied quite common. Up to one-third by peripheral neuropathy. Post-mortem findings of biopsy-proven celiac patients have included, of course, atro - [may] have neurologic deficits. phy of the cerebellum, gliosis Some reports show up to half of and Purkinje cell loss. The The re“sponse to response to gluten-free diet has celiac patients having neurologic deficits. These deficits involve gluten-free diet has been mixed. Positive response the central and peripheral nerv - been mixed. Positive has been described by some ous system, most commonly groups, while others have re - being cerebellar ataxia and response has been ported no benefit. There are case peripheral neuropathy, although described by some reports of response to immuno- seizures and psychiatric deficits groups, while others molulatory therapy (intravenous have also been reported though immunoglobulins (IVIg)). much less commonly. These have reported Which brings us to the ques - may occur with or without no benefit. tion: what exactly is the relation - the intestinal symptoms. But it’s ship between ataxia and gluten still celiac disease because even sensitivity? In the past, nutri - though you don’t have intestinal ” tional deficiencies were believed symptoms you might still have the mucosal to be a cause of some of the neurologic deficits lesions in the small intestine. I should also that are associated with celiac disease. Those are mention that the elevated levels of anti-gliadin now believed to be very rare. But there is a lot of antibodies have been associated with idiopathic evidence showing that the ataxia that is associ - ataxia even in the apparent absence of the ated with gluten sensitivity is immune-mediated. characteristic mucosal damage. The terms gluten As I mentioned there is lymphocytic infiltration ataxia and gluten neuropathy have been used to in the cerebellum, some patients respond to describe these conditions but the significance of gluten-free diet or therapy with IVIg. And, most these anti-gliadin antibodies in the absence of importantly, patients have anti-neuronal anti - the intestinal pathology is something that is the body reactivity in their serum and CSF, and the subject of contention right now. passive transfer of patient serum to animals can The ataxia that is associated with gluten sensi - cause motor coordination deficits. tivity was first reported in 1966 by Cook and The question that we wanted to ask was: Smith. A lot of subsequent studies have pointed to the presence of an association between Continued on page 22 Page 22 Generations Fa ll 2008

Gluten Sensitivity .. . transmitter release and result in neurologic dys - Continued from page 21 function. And this immune cross-reactivity might also lead to damage through T-cell Can antibodies to wheat gluten cross-react with mediated mechanisms. I should mention again, neural antigens? Can the anti-gliadin antibodies that among the celiac patients in this study, anti- bind to proteins or lipids or carbohydrates in the synapsin antibodies were present in subjects with cerebellum? An example of this kind of process sporadic ataxia as well as those without ataxia. So being involved in a disease is Guillain-Barré this implies that, like a lot of other autoimmune syndrome, where you have an infection with diseases, antibody activity is only one piece of Campylobacter jejuni, which is followed by the puzzle in the mechanism of the neurologic the cross-reacting of the anti-campylobacter complications in celiac disease. antibodies against gangliosides on the myelin, The potential pathogenic role of the anti- potentially leading to paralysis. So we looked synapsin immune response in the central and at the binding of serum antibodies from both peripheral nervous systems is going to depend on patients and immunized animals to neuronal a number of additional factors, including the cells. We wanted to see what local integrity of the blood nerve exactly – what protein, what or blood brain barrier, presence antigen – are the anti-gliadins of inflammatory factors, as well targeting in the cerebellum, in as the type of and fine specificity the brain? The anti-gliadin anti - of the immune response. And by bodies are binding to a doublet that I mean, where exactly on around 75 kilodaltons in mass that protein are the antibodies and an isoelectric point of about binding to? Are the antibodies 10; a very basic protein. So we binding to part of the protein decided to identify the protein that has no function? Are they by affinity purification and binding to a part of the protein peptide mass mapping, and we in immunoblotting experiments found this protein to be synapsin that cannot even be seen by the 1. Synapsin 1 has two isomores a Dr. Armin Alaedini immune response because it’s and b, and is a cytosolic protein. inside the protein? So we decided to find out ex - So the big question here is, can this antibody actly what part of synapsin 1 these anti-gliadin reactivity that we found, actually cause disease? antibodies are binding to. Carbohydrate epitopes Can it be pathogenic? The disruption of synapsin (parts of the protein that anti-bodies bind to) are activity has been shown in a number of experi - not the epitopes in synapsin 1 because in a ments to interfere with neurotransmitter release. synapsin 1 that we have deglycosylated (taken the Pathogenic antibodies typically target antigens in sugars out) we still see the reactivity. So carbo - the extracellular matrix or on the cell surface. hydrates are not being targeted. We tried to look Now our protein (synapsin 1) is located inside at the amino acid sequence of synapsin 1 and the cell. But there is evidence that antibodies to compare it to gliadin. Synapsin does contain a lot intracellular antigens can also cause disease and of prolamines and glutamines just like gliadins. examples of that are amphyphysin in stiff-person So we took the entire sequence of synapsin 1 a syndrome, and GAT (glutamic acid decarboxy - and b and we synthesized overlapping peptides, lase). So there is a possibility that synapsin 1 so that each peptide contains 14 amino acids, over- antibodies in patients that have anti-gliadin anti - lapping by eight amino acids. We synthesized body reactivity can in fact interfere with neuro - 120 amino acids corresponding to synapsin 1  Fa ll 2008 Generations Page 23 a and b and we spotted them on the cellulose membrane. We looked at the interaction of the anti-gliadin antibodies from patients and from animals with synapsin 1 a and b peptides. Non- specific antibodies do not bind to any of these peptides. So, for example, antibodies in a normal human don’t bind to any of the peptides; whereas in a subject with ataxia the antibodies strongly bound to several epitopes. The A, B and C epi - topes are, in fact, surface exposed and they are directed away from the plane of synapsin dimer - ization. I don’t know if I mentioned this but synapsin is a dimer. And A, B, and C are in fact available to an antibody. And what’s more im - Fig. 1. A-D, Immunohistochemical analysis of portant is that these epitopes are in fact part of reactivity of the anti-gliadin antibody with the domains that have a role in mediating the in - neural tissue. A and B, Staining of sections with antibody (cerebellum (A), cerebral cortex (B)); teraction between synapsin and synaptic vesicles. C and D, Staining of subsequent sections with They basically anchor themselves onto the antibody following absorption with crude synaptic vesicles and are involved in neurotrans - gliadin (cerebellum (C), cerebral cortex (D)). mitter release. So the antibodies can in fact cause Bars = 25 m. disease. They can; we don’t know if they do. the specifµic epitope reactivities are associated I want to mention some of the ongoing with particular neurologic presentations. We’re research and future directions. A lot of these also looking at T-cell reactivity right now, as well experiments are ongoing so in the next one or as the presence of specific cytokines that may be two years we’re going to have a lot more answers. associated with ataxia and gluten sensitivity. And We want to know exactly, are the anti-synapsin finally, we’re looking at how the anti-gliadin antibodies associated with ataxia? And we’re antibodies that cross-react with synapsin 1 may doing this through recruiting more patients, and affect neuronal cells and we’re doing that this is being done in collaboration with Dr. Mark through cell culture studies and experimental Hallet at the NIH. We also are looking to see if animal models. O

Share Your Story Vehicle Donation Generations is published quarterly by the Donating a vehicle to the National Ataxia National Ataxia Foundation to inform read - Foundation will help support the important ers about research, chapters and support work that is being done on behalf of all who groups, events and other topics related to are affected by ataxia. ataxia. Personal stories form those affected To donate a car, truck, or motor home, by ataxia are an important part of the publi - call the NAF office at (763) 55 3- 0020. The cation. Stories submitted should be no vehicle will be picked up at your home, longer than 1,200 words. If possible, tell office, or other place that you designate. how NAF has made an impact in your life or Be sure to have the certificate of title with situation. Submit stories to [email protected] the vehicle. Thank you in advance for your to be considerd for publication. donation. Page 24 Generations Fa ll 2008 The National Ataxia Foundation 52nd Annual Membership Meeting “Cli mb E very MMountain ” Seattle, Washington – Ma rch 2 0-22, 2009

The National Ataxia Foundation Board of in the Registration room and announced at the Directors and the National Ataxia Foundation meeting. For that reason we encourage attendees Seattle Area Support Group along with the to plan to attend the entire meeting to ensure that British Columbia Ataxia Society would like to you will not miss a presentation. invite you to the 52nd Annual Membership Program Overview Meeting. This will be the first internationally co-hosted Annual Meeting. NAF commends the Thursday, March 19 British Columbia Ataxia Society and the Seattle Leadership Meeting – 1:0 0-3:30 p.m. This Area Ataxia Support Group for their coordinated meeting is designed to provide information and efforts in planning this conference. Please join us support to NAF’s Chapter Presidents, Support in Seattle, WA, the heart of the Pacific North - Group Leaders and Ambassadors. The meeting west, to learn, share, network, have fun, and is a valuable resource for volunteers who serve in enjoy the sites. these appreciated positions. If you are a leader The 2009 NAF Annual Membership Meeting who is unable to attend the meeting, please indi - will continue to focus on bringing together NAF cate one representative who is willing to attend in members and their families to meet and learn your place. Meeting attendees will have questions from world leading ataxia researchers and and concerns addressed, learn from peers and neurologists, but also to build new friendships professionals and have the opportunity to meet and reunite with old friends. Whether this is others and exchange tips and ideas. If you are your first meeting or your 52nd, the 2009 interested in becoming a group leader or ambas - Annual Membership Meeting will be filled with sador, contact Lori at lo [email protected] prior to education, celebration, sharing, and caring! the meeting. The Annual Meeting Registration Form will Ride Ataxia III Arrival – Please join us in be printed in the Winter issue of Generations and welcoming the riders participating in Ride will be posted on our website by January 5, 2009. Ataxia III. Ride Ataxia has been instrumental You may also view the latest information avail - in raising ataxia awareness and funds for Fried- able about the Annual Membership Meeting at reich’s ataxia research. Visit http: //rideataxia. www.ataxia.org . The Annual Membership Meet - blogspot.com for the latest information. ing Program you receive at the conference will Internet Group – This is your opportunity to be the most updated conference schedule. Please meet some of those internet friends that you have use your Meeting Program for room assignments met in the NAF chat room, NAF Bulletin Board, and times. Due to unforeseen circumstances the Internaf, Tricks of the Trade, Ataxia Forum, meeting schedule may change. We apologize in Ataxia Chat 2002, FAPG, u_r_notalone, and advance if that is the case. Changes will be posted My Space NAF.  Fa ll 2008 Generations Page 25

Friday, March 20 work of the Foundation. This long-standing General Sessions – Friday morning will start tradition begins on Saturday afternoon with the the General Sessions in the Grand Ballroom. final bidding ending at 7:30 p.m. Auction items General Sessions are large group presentations, range from something that represents your state typically with a medical or research focus. This or country, art work, sports memorabilia, theme year the General Sessions will incorporate the baskets, hand-crafted items, hotel stays, and practical topics in addition to the research and weekend getaways. Bring an item to donate and medical topics. Many of the world’s leading then have fun bidding on the items of your ataxia researchers and clinicians, along with choice. Good luck! other ataxia experts, will be presenting the latest Saturday Evening Banquet – The Saturday research and additional information. A half- Evening Banquet will begin at 7:00 p.m. in the hour Question and Answer session will follow Grand Ballroom. Please get your tickets – which the morning General Sessions with a panel of the are included in your registration fee – ahead of speakers that presented. time. You must reserve seating for the banquet Birds of a Feather – Friday from 2:0 0-5:00 p.m. in advance. The banquet will include a plated individuals will be able to attend small group dinner. sessions. Groups will be divided by different types of ataxia or different roles that attendees are Sunday, March 22 experiencing, i.e. caregiver, spouse, or parent. General Sessions – Sunday morning wraps up This is a tremendous opportunity to meet others the 2009 Annual Membership Meeting with the who share a similar situation or the same ataxia final round of General Sessions in the Grand diagnosis. Previous attendees have said these Ballroom followed by a Question and Answer group sessions were the most valuable segment Session. of the annual membership meeting where they Additional Information were able to make friends for a lifetime. Medical Conference Registration – Please complete and professionals will be circulating between groups return the registration forms in the Winter issue and available for questions. of Generations to NAF by February 15, 2009. Friday Night Reception – Please join us for an Additional registration forms will be available on hors d’oeuvres reception in the Grand Ballroom. our Web site. Please fill out the registration form All registered meeting attendees are welcome to completely, as we need all the information to attend and admittance to this event is included finalize plans. If you are bringing an attendant, with your registration. please register together on the same page. Each Saturday, March 21 person that is planning on attending daily General Sessions – Saturday morning and after - sessions, the reception, or banquet needs to noon continues with General Sessions in the register. Event entry will not be allowed without Grand Ballroom. A half hour Question and the proper registered name tags. Answer session will follow the morning and Registration Fees – Being a member of the afternoon General Sessions with a panel of the National Ataxia Foundation has its benefits – speakers that presented. one being a lower registration fee for the Annual Church Services – Both Catholic and non- Membership Meetings. If you are not currently denominational church services will be held on a member of NAF or if your membership Saturday at 6:00 p.m. renewal is coming soon or if you are uncertain Silent Auction – The Silent Auction is a fun way to raise funds for the continuing important Continued on page 26 Page 26 Generations Fa ll 2008

Climb Every Mountain About the Hotel – The Doubletree Hote l Continued from page 25 Seattle Airport is the official conference hotel of the 2009 NAF Annual Membership Meeting. of your membership status, please consider this a The Doubletree Seattle Airport is located next great opportunity to call the office at (763) 553- to SeaTac International Airport and 20 minutes 0020 or go online at www.ataxia.org to become a from Downtown Seattle at 18740 International member or renew your membership. This will Boulevard, Seattle, WA 98188. prevent unnecessary extra fees or errors in your The Doubletree Hotel is a resort-like setting membership status when you register for the Annual Membership Meeting in January, with a full slate of amenities such as complimen - 2009. Thank you for taking time to renew or tary shuttle service to Westfield Southcenter become a member of NAF. Your attention to Mall and 24-hour airport shuttle service. (See the this detail is greatly appreciated. “Transportation and Getting There” section that Video Taping – Video taping of the NAF follows for details). Complimentary wireless Annual Membership Meeting General Session is internet access is available in all public areas and prohibited without prior written consent from all guest rooms include a coffeemaker, USA the National Ataxia Foundation. Today , and a balcony. Please visit the Doubletree Photo Waiver – By attending the 2009 NAF Hotel Seattle Airport’s Web site for more infor - Annual Membership Meeting you give your mation: http://doubletree1.hilton.com/en_US/dt/ consent, unless you notify us otherwise, to use hotel/CTAC-DT-Doubletree-Hotel-Seattle- your image captured during the conference Airport-Washington/index.do . through video, photographs, or digital imagery, Some guest rooms at this hotel can be located to be used by the National Ataxia Foundation in up to a quarter-mile away from the lobby and promotional materials, publications, and Web meeting rooms. Please contact the front desk for site and waive any and all rights to these images. transportation from your room to the main hotel About Seattle – Christened “The Emerald entrance if your room is located too far for you to City,” Seattle is one of the most livable cities in walk or transport yourself. the world. It actually receives less annual rainfall Self-parking and valet parking are available. Self (36 inches) than New York City and Atlanta. parking overnight is $16 per night. Valet parking Surrounded by lakes, rivers, Puget Sound, and is $20 per night. Self parking for day use is $10 mountains, it is a recreation enthusiast’s dream. per day. NAF has a special group parking rate of The greater Seattle area is home to 2.8 million $8 for self parking overnight and day use. To re - people. Microsoft, Nordstrom, and Starbucks are ceive the group parking rate you will need to based here. Seattle is also known as the birthplace bring the parking ticket that you received at the of the crazes for grunge rock and espresso coffee. parking gate upon entering the hotel parking lot This area is the home of baseball’s Edgar to NAF’s registration room (Northwest 1) for Martinez; glass art’s Dale Chihuly; musicians validation. NAF does not have a group rate for Pearl Jam, Soundgarden, Queensryche, Ann and valet parking. Nancy Wilson of Heart and Kenny G.; software Reservations – Guest rooms are available for a giant Bill Gates; maestro Gerard Schwartz; actor special group rate of $139 per night. Please be Tom Skerritt; and writers Ann Rule, Robert sure to make reservations by February 16, 2009 Fulghum, and Tom Robbins. in order to secure the special rate. To book your For more in depth information about the stay online go to http://doubletree.hilton.com/en/dt/ Seattle area in order to plan your trip please visit groups/personalized/CTAC-DT-NAF20090316/ www.visitseattle.org or www.seattlesouthside.com . index.jhtml , or if you prefer to make your  Fa ll 2008 Generations Page 27 reservations by phone, please call toll-free 1-800- arrive to arrange transportation. This shuttle can 222-TREE and ask for the National Ataxia transport two wheelchairs at a time. Foundation group rate. Our group code is NAF . Taxis – STITA Taxi Service and Yellow Cab There were a limited number of ADA rooms have lift-equipped vehicles. Reservations should available on a first-come, first serve basis in our be made in advance. STITA Taxi Service can be group block. All of these rooms are now reserved reached at (206) 246-9999. Yellow Cab can be at the Doubletree Hotel Airport. We do have a reached at (206) 622-6500. small block of ADA rooms at the Hilton Seattle Gray Line of Seattle – Gray Line has one Airport. Scheduled transportation will be pro - charter coach that accommodates up to four vided for NAF conference attendees to and from wheelchairs and several small coaches that the Hilton and the Doubletree. To reserve an accommodate up to two wheelchairs. Charters ADA room at the Hilton Seattle Airport or if you must be reserved in advance. Call (206) 626- are interested in putting your name on our ADA 6080 or visit www.graylineofseattle.com for more room waiting list, please contact the National information. Step-on guide service and tours are Ataxia Foundation at (763) 553-0020. Shower available. Ask for Judy Sprute. chairs, tub bars and toilet frames will be available Metro Bus – Route 194 is closest to the hotel. on a first-come, first-serve basis at the Double - The buses can accommodate up to two wheel - tree Hotel front desk upon check-in. chairs at a time. Each bus has a lift. The buses run Transportation and Getting There every 30 minutes starting at 6:19 a.m. and with NAF is not responsible for transportation to the last return at 8:50 p.m. 2008 fares are $1.50 and from the hotel. At the SeaTac International per person, and you must have exact change. Airport the General Information Desk is located Call (206) 553-3000 or visit http://tripplanner. across from baggage claim carrousel 12. The metrokc.gov/cgi-bin/itin_page.p l ?resptyp e=U for following may be used as a helpful guide for your more information . convenience. Parking – Based on state law, Seattle allows on- Complimentary Lift-Equipped Shuttle – The street parking at no cost to holders of Disabled hotel offers complimentary lift-equipped shuttle Parking Permits, which are issued by the state. service to Westfield Southcenter Mall and 24- The State Department of Licensing can issue hour airport shuttle service. A shuttle schedule disabled parking placards (either red-temporary to the mall will be included in your pre-registra - or blue-permanent) and/or disabled parking li - tion packet. Once you arrive at the airport you cense plates. Call the Washington State Disabled can get to the shuttle pickup area by taking the Permit Program at (360) 902-3770, option 5. elevator located in the baggage claim area up one Metro ACCESS Paratransit Service – You floor to the Skybridge (also labeled as Parking on must be found eligible for the ADA Paratransit the elevator). The Skybridge will take you to the Program before you can request rides. For more Parking Garage. In the Parking Garage take the information, call Metro’s Accessible Services elevator down to the street level to the shuttle office during regular weekday business hours at pick-up area. There are two Doubletree Hotels (206) 263-3113. (If you have to dial “1” first to in this area. Please make sure you take the correct reach that number, call 1-866-205-5001.) TTY airport shuttle to the Doubletree Hotel Seattle users should call the statewide relay at 711. You Airport. Do not take the Doubletree Hotel can also reach Accessible Services by fax at (206) Seattle Airport Guest Suites shuttle. If you need 263-3101 or by e-mail at accessible.services@king an ADA shuttle from the airport please contact county.gov . Visit http://transit.metrokc.gov/tops/ the hotel directly at (206) 246-8600 before you accessible/accessvan.html for more information. O Page 28 Generations Fa ll 2008 SEATTLE Pharmacy Options

SERVIC ES & RESOURCES The following may be used as a helpful guide for your convenience (distance from hotel indicated): Personal Care Attendants Walgreen’s – 2.99 miles Bartell Drugs – 2.19 miles Pharmacy is open 24x7 Pharmacy is open from Please note that NAF is unable to provide attendant 14656 Ambaum Blvd. SW 9:00 a.m .–9:00 p.m. care services. Due to liabilities and health concerns, Burien, WA 98166 14227 Tukwila Int’l Blvd. NAF and hotel employees are not able to provide this (206) 901-1774 Tukwila, WA 98168 service. Longs Drugs – 2.13 miles (206) 431-9639 All PCAs must be registered to attend the annual membership meeting. A PCA will not be required to be 15716 First Ave. S. a NAF member to receive the reduced NAF member Burien, WA 98148 meeting fee. PCAs will be able to attend all sessions, (206) 243-4600 including the Friday reception and Saturday banquet. This applies to family members/friends or contracted Dining Options PCAs or other persons needed to provide services. The following is a list of dining options inside of and Please do not attend without making arrangements for within two miles of the AMM hotel, the Doubletree an attendant if you are need of one. The following may Hotel Seattle Airport. The following may be used as be used as a helpful guide for your convenience: a helpful guide for your convenience: Senior Services Senior Information & Assistance Inside the Doubletree Hotel Seattle Airport: 2208 Second Ave., Ste. 100 Seattle, WA 98121 SeaPorts Lounge Room Service (206) 448-3110 Fax: (206)448-5748 11:00 a.m .–1:30 a.m. 6:00 a.m .–10 p.m. Toll-free: 1-888-435-3377 (TTY) 206-448-5025 Sandwiches, pizza and Full menu www.seniorservices.org [email protected] nachos 10:00 p.m .–12:00 a.m. Maxi’s Lounge Limited menu Wheelchair & Scooter Rentals Friday & Saturday only Latte Stand Coffee Garden Restaurant 5:00 a.m .–2:00 p.m. The following may be used as a helpful guide for your Espresso, coffee, juice, convenience: 5:00 a.m .–10:00 p.m. Casual American dining soft drinks, muffins and Access Mobility Systems Scootaround for breakfast, lunch, cookies www.accessams.com www.scootaround.com dinner and express buffet [email protected] [email protected] 13011 Hwy. 99 Toll-free: 1-888-441-7575 Within two miles of the hotel: Everett, WA 98204 Absolute Mobility Center Taco Bell – 0.05 miles Spencer’s for Steak & (425) 353-6563 absolutemobilitycent. 18812 International Blvd. Chops – 0.7 miles Fax: (425) 355-6159 reachlocal.com Seatac, WA 98188 17620 International Blvd. Toll-free: 1-800-854-4176 (425) 318-1390 Denny’s – 0.1 miles Seatac, WA 98188 Fax: (360) 668-1543 18623 International Blvd. Denny’s – 0.9 miles Toll-free: 1-888-822-9407 Seatac, WA 98198 17206 International Blvd. Wheelchair Repair Companies Sharps Roaster & Ale Seatac, WA 98188 House – 0.2 miles IHOP – 1.2 miles The following may be used as a helpful guide for your 18427 International Blvd. 20402 International Blvd. convenience: Seatac, WA 98188 Seatac, WA 98198 Olympic Pharmacy, Kirks Medical Thirteen Coins Subway – 1.8 miles Gig Harbor 7131 Martin Way E Restaurant – 0.5 miles 21425 International Blvd. 4700 Pt. Fosdick Dr. NW Olympia, WA 98516 18000 International Blvd. Des Moines, WA 98198 Gig Harbor, WA 98335 (360) 456-5475 Seatac, WA 98188 (253) 858-9941 Fa ll 2008 Generations Page 29

Annual Meeting Travel G rants News & Notes Fun ding Needed Volunteers Needed Each year the National Ataxia Foundation Volunteers donating their time contribute offers a limited number of travel grants to help greatly to the success of each NAF Annual persons with ataxia who have financial restraints Membership Meeting. attend the NAF Annual Membership Meeting. To volunteer at the 2009 AMM, please These travel grants provide persons with ataxia contact Milly Lewendon, Seattle Area Support Group Leader, at (425) 823-6239 the opportunity to attend these important con - or e-mail [email protected] or ferences to learn the latest information on ataxia contact Brenda Dixon, Vancouver Support research, attend presentations on topics relating Group Leader, at (604) 273-2789 or e-mail to ataxia, participate in “Birds of a Feather” inf [email protected] . sessions, and perhaps most importantly, meet Exhibitors Wanted people who share the same issues and concerns. Have you used a product or service that Over the years these travel grants have been has been helpful as it relates to ataxia? made possible through the generosity of indi - NAF is currently exploring various vendors to be exhibitors at the Annual Membership vidual donors and families who know the value Meeting in Seattle in March 2009. of these meetings. Please help others attend the If you have found a product or service that 2009 NAF Annual Membership Meeting by is beneficial in your daily life, tell us about making a tax-deductible donation today. You it and we will contact them regarding may go online to make your gift or you can mail becoming an exhibitor. Please call the NAF office at (763) 55 3- 0020 or e-mail your donations to NAF and write “Travel Grant” liz@ ataxia.org . on your check memo, Apply for a Travel Grant We are deeply grateful to those who have given Youth and adult travel grants are avail - in the past for this fund; their gifts have truly able to help cover some financial expenses touched the lives of persons with ataxia. Please involved with attending the NAF Annual help others and give to the 2009 NAF Travel Membership Meeting. For more information Grant Fund today. Thank you. O visit the NAF Web site, www.ataxia.org . Reminder: AMM Reception & Banquet Included in Your Registration Fee Please note that the registration fee to Going Once, attend the Annual Membership Meeting includes the reception and banquet. There is no separate fee to attend these celebra - Going Twice, Sold! tory events. We hope to see you all there! Help make the 2009 National Ataxia Founda - Nurse(s) Needed tion Annual Membership Meeting Silent One or more registered nurses are needed onsite for the duration of the NAF Auction the biggest yet! 2009 Annual Membership Meeting to be Proceeds from the silent auction, to be held held in Seattle, WA on March 2 0-22, 2009. Saturday, March 21, 2009 at the Doubletree To volunteer or for more information, Hotel Seattle Airport, benefit those with ataxia please contact Lori at lor [email protected] or call and their families. (763) 55 3-0020. So get your items ready to go to Seattle! O Page 30 Generations Fa ll 2008 Dr. Bronya Keats Retires from Position at LSUHSC

Written in collaboration with Dr. Paula Gregory of LSUHSC

In July of 2008, Dr. Bronya Keats took early in the Acadian population of southeast Louisiana, retirement from her position at Louisiana State particularly Friedreich’s ataxia (FRDA). Her early University Health Sciences Center to return to work on FRDA carrier detection was funded for Australia to spend time with her family. Dr. six years by NAF. She was later funded for gen- Keats has been involved with ataxia research etic analyses of spinocerebellar ataxia. In 1992, throughout her career and has been an integral she received a NAF grant to perform genetic member of the National Ataxia Foundation’s linkage studies of Friedreich’s ataxia in the Medical Research Advisory Board. Acadians. She was the founding director of the She received her PhD in Center for Acadiana Genetics human genetics from the and Hereditary Health Care Australian National University and was director of the Molec - in 1976, and spent several post - ular and Human Genetics doctoral years at the University Center of Excellence. of Hawaii before accepting Throughout her career, Dr. a faculty position at LS U’s Keats worked to help the Health Sciences Center in Cajun population, organizing 1982. educational programs, semi - Dr. Keats’ major research nars, and outreach clinics. She area is identifying and charac - helped focus attention on the terizing genes that cause hear - uniqueness of this population ing loss, in particular, Usher and received significant na - syndrome and nonsyndromic tional funding for her efforts. deafness, as well as neurode - Dr. Bronya Keats Dr. Keats is nationally recog - generative diseases such as the hereditary atax - nized for her expertise in population genetics. ias. She is also involved in community outreach She has been on the editorial board of some of and education programs to enhance medical the most prestigious genetics journals, and is care. Dr. Keats has served on numerous NIH board certified in Clinical Molecular Genetics. study sections and working groups. She was a In 2000, she helped to form the LSUHSC member of the National Deafness and Other Department of Genetics and became the first Communication Disorders Advisory Council chair of that department. from 1995-1999 and a member of the NIH Na - Dr. Keats took early retirement this past July, tional Advisory Council for Human Genome but will continue to collaborate with those at Research from 200 0- 2005. She also recently LSUHSC and around the U.S. The foundation completed her two-year term as president of she provided for the Department of Genetics the Association of Professors of Human and made it one of the best departments within the Medical Genetics. entire medical school. She will be sorely missed Her research focused on hereditary disorders by her friends and colleagues in genetics. O Fa ll 2008 Generations Page 31

Frequen tly As ked Ques tions About Tissue Donation Donating tissue for medical research is an To be legally binding, Dr. Koeppen will discuss important and deeply personal decision. Proper the consent forms with you over the phone. If planning can help ensure that wishes are you have trouble speaking, you may request that accounted for and honored at the time of your or a relative speak with him about the forms and a loved one’s passing. the investigation. The following is a brief description of the Q. Will my family have access to the process of donating tissue for medical research results from my tissue donation? through the National Ataxia Foundation under Yes. Feedback to families and the involved the care and guidance of Dr. Arnulf Koeppen. physician (at the family’s request) is part of the For more detailed information or to make process. A report and cover letter which often arrangements for tissue donation please con - contains diagnostic information is mailed to tact Dr. Koeppen directly. them. Tissues are not intended for transplanta - Q. Why is tissue donation important? tion but some families offer donation of corneas The examination of diseased tissues by a and other tissues that are not affected by ataxia trained pathologist remains the gold standard or co-existing illnesses. for diagnosis. An explanation of ataxia arises Q. What are the final steps for tissue donation? from such an examination, and key questions Tissues will be collected according to a spe - about the severity of ataxia can be answered. cific protocol that Dr. Koeppen forwards to the Tissues of persons with ataxia are needed to collaborating pathologist. Your next-of-kin will study the fine details of how the brain and spinal sign a consent form that allows Dr. Koeppen to cord are injured by the disease. In the case of use the collected tissue for research. Friedreich’s ataxia patients, donation may in - clude tissues from the heart and pancreas as Q. Are there costs involved? well as the brain and spinal cord. It is important to note that in some cases ad - ditional funeral expenses may apply from the Q. I have decided to donate my tissue, process of tissue donation. Some pathologists what should I do next? and medical centers may request payment for First, let your next-of-kin know that you intend the autopsy. to donate tissues, including brain, spinal cord, The sum may be as high as $1,500. and in Friedreich’s ataxia also heart and pan - creas. An autopsy is required, and your next- Q. What if I change my mind? of-kin will have to sign a formal permission Participation is entirely voluntary. Family mem - document. Living patients who inquire about bers may direct the investigator at any time to tissue donation receive a consent form to enroll end further research, even if the autopsy has as participants with emphasis on their disease. been completed and tissues were already har - However, their next-of-kin becomes the ultimate vested for research. Upon request, tissue will donor and secondary research participant and be destroyed. as such, must complete a new set of docu - ments. For more information, please contact: Q. What kind of consent needs to be given Dr. Arnulf Koeppen for a donation? Professor of Neurology & Pathology One is formal permission to be enrolled in VA Medical Center this research program; the second authorizes 113 Holland Ave., Albany, NY 12208 release of your private and protected health Phone: (518) 626-6391 information to Dr. Koeppen. The “permission” Fax: (518) 626-6369 document requires the signature of a witness. E- mail: [email protected] Page 32 Generations Fa ll 2008 Interview: Rebecca Cummings Baldwin , Author of “Three Wheels”

“Three Wheels” is book that was written and published by Rebecca Cummings Baldwin about her true, personal ataxia story. Her book is on sale through the National Ataxia Foundation as well as on various Web sites including Barnes&Noble.com. A portion of the proceeds from the sale of her book supports NAF. Rebecca took some time to share her own reflections about the book with Generations.

What motivated you to write this book? they’re just that … moments. If I learned any - It’s hard to explain what motivated me to write thing about myself while writing this book it was this book. I see it as a story/book that really could that I won’t quit. I quoted Robert Browning in be for anyone. Everyone, at some point, comes the book by saying “My business is not to remake to grips with a crisis, a tragedy or a difficult myself, but to make the absolute best of what decision which can lead to despair or frequently God made.” depression. My three-wheel bike in an odd sort Would you encourage others to express of way found me a peace and contentment that I themselves through writing? found much comfort in as I watched and felt my I would definitely encourage others to express life slate being wiped clean … I told myself that themselves through writing their feelings or even if I could just touch/inspire one person that was talking in a recorder. I often get e-mails from the good enough for me. I have been very blessed NAF message board and find that there are many because it has been far more than one. who are angry and feel that it’s all over. It helped What was the writing process like for you? so much to just write those feelings down. It made The writing process was easy as far as typing it me realize that I could have control over my ex - on the computer. I’m not a typist at all, and have istence. It made me thankful for every single day. lost a lot of fine motor skills, but I truly believe I I got excited when I realized I was seeing more was nothing more than a vehicle for this book than just myself. I got excited when the walking anyhow. Daily I would just peck away and almost like a penguin, not being able to physically write, a year later a manuscript was complete. The tremors that appeared when you least expected editing of this book was tearful at times because it, drinking from a cup/bottle and it requiring the tremors in my hands made putting a comma both hands, not being able to keep peas on a fork where it was needed, or deleting one more than or spoon, etc. didn’t embarrass me anymore. difficult. My three-wheel bike was ridden twice When I do book signings I have to sign several at a day during the editing process, and it by no home. I may start days before the signing because means is all correct. the most I can physically do is about five per How was writing this book therapeutic day. My husband sits with me to hand out the for you? books while I continue to sign a few more for the The book showed me I could still be all I pile. Would I have gotten to this place of con - desired to be. Sure, I had my limitations, but my tentment without the book? I’m not real sure life in no way was over. I simply had to start a about the answer. I just know by expressing new life slate, and with prayer, reading inspira - myself, by baring my soul for all to see, by riding tional messages, meditation, and riding my bike my three-wheel bike, by not only believing, but I could do this. You bet there are moments that trying hard to live by my faith I made it. Some you feel like giving up, but fortunately for me call it a journal, but to me it is a journey. O Fa ll 2008 Generations Page 33

enjoyed shopping at the fresh vegetable market, Alabama Ataxia Support Group choosing peaches, peanuts, watermelon, toma - By Becky Donnelly toes ... you name it. We might have to repeat this The Alabama Ataxia Support Group wel - next year. comed Ellie Jo Malki, PT, DPT, of Amedisys Socials are planned for both September and Home Health Services to our January meeting December and our last meeting of the year will and members enjoyed physical therapy demon - be on October 25 at Bluff Park Baptist Church strations and a Q & A session. Cell Group in Hoover, AL, with Kathy Robson, Health reports and membership updates followed, and Care Coordinator for Central and North then members enjoyed a great luncheon coor - Alabama MDA, as our speaker. dinated by Pat Guercio. Our scheduled May meeting speaker was Greater Detroit Area Ataxia unable to attend, so we enjoyed a lengthy fel - Support Group lowship time, a delicious luncheon, reports from By Tanya Tunstull those who attended the Annual Meeting in Las Vegas and ended with an inspirational time. On Saturday, August 23, the Greater Detroit Both meetings were well attended with 22 to 25 Area Ataxia Support Group held its first meeting members present. at Harper Hospital from 1 to 4 p.m. We had a tremendous turnout for our first meeting, with Our social in July was super-delicious! We 38 people in attendance. traveled to Peach Park in Clanton, AL, and en - Our meeting featured two wonderful speak - joyed a lazy, southern meal of barbecue with all ers, Dr. James Garbern (neurologist) and Shawna the trimmings and then feasted on the many Feeley, (MS genetic counselor). Both are very desserts and flavors of ice cream, with fresh peach being the favorite. Yum! Yum! Members Continued on page 34

The Alabama Ataxia Support Group Page 34 Generations Fa ll 2008

Chapter and Support Group News SAMAG to share words on ataxia. Continued from page 33 Later, the ataxia awareness meeting progressed with Chandu George explaining to members knowledgeable about ataxia. The information what ataxia is, including its symptoms, causes, our speakers provided and the questions from and types. He then asked community members the group made for a lively and informative to come forward and support the ataxia cause session. and to endorse the views of SAMAG to provide Refreshments were served and we had a draw - help for those affected by ataxia in India. ing. Two prizes were awarded; the recipients The meeting ended on an emphatic note with were Denise Samko and Charlotta Fambro. the community members and parish priest The next meeting is tentatively scheduled in enthusiastically and eagerly accepting awareness October, and will be an informal gathering. This of ataxia and joining hands to support SAMAG. will allow group members a chance to meet, get Please visit our website for more information: to know each other, and share experiences. www.samataxiagroup.org .

India Ataxia Support Group (SAMAG) Los Angeles Ataxia Support Group By Chandu George By Sid Luther A very warm welcome and greetings to all! The Los Angeles Ataxia Support Group held St. John’s Church in India invited Seek a Mira - its annual barbecue at the home of Thom Fritz cle Ataxia Group (SAMAG) to share its story in beautiful Venice Beach on July 12. Fourteen and create awareness about ataxia among the people braved the warm and unusual humidity community on August 24. SAMAG is a support for an afternoon of great food and conversa - group working for the cause of ataxia in India – tion. Four new members – Sherry, Lonie, its objectives include raising awareness, provid - Rocky, and Teresa – were a very welcome addi - ing information on ataxia, and working for the tion. Special guest Danial Navar joined us from welfare of those living with ataxia in India. the Orange County support group. The ataxia awareness program started with an The barbecue grill was mastered by Jason, introduction from parish Priest Pious Thomas our fabulous chef, who expertly grilled every - who first questioned all the members “Has thing from hot dogs to thick pork chops. While anyone heard about ataxia?” He asked thrice and munching, the group voted on which Holly - the silence itself explained that no one was aware wood Bowl concert we will be attending. of it. Then Thomas invited Chandu George of

Chandu George speaking about ataxia at The Los Angeles Ataxia Support Group at their St. John’s Church in India annual summer barbecue Fa ll 2008 Generations Page 35

recent heat wave in California. Northeast Florida Ataxia Support Group The speaker was Ryan Canolty from the neu - By June McGrane roscience program at UC Berkeley. His presen - The Northeast Florida Support Group met for tation was “New Frontiers in Rehabilitation of lunch at the Reef Restaurant in St. Augustine on Movement Disorders: Eavesdropping on the July 12. Everyone had an enjoyable time. Brain.” He described some of the procedures Our group held its ataxia meeting on August 9 that are being developed to assist people with at the Baptist South Hospital in Jacksonville. movement disorders. Although this research is Dr. Tom Clouse made it a memorable occasion presently associated with such illnesses as stroke by traveling here and speaking and demonstrat - and Parkinson’s disease, it is expected that future ing walking, dancing, speech, etc. He is an inspi - application will move in the direction of ataxia, ration to all as he has overcome so many of his as it is being discovered more and more that own ataxia problems. Everyone had a great time. all neurological disorders have a tremendous Tom had dinner with us after the meeting and amount of common ground. we hope to see him again soon. The NCASG group is looking forward to two events in the near future. The first is an occasion for IAAD on September 25: a “Walk ‘N Roll Happening” September 27 in Sunnyvale, CA. Dawn Pollak, who is the organizer, passed out information at the meeting. The second is the annual All California Ataxia Research Meeting (ACARM) September 14 at the San Jose Air - port’s DoubleTree Inn. Each year, at this time, the southern and northern support groups com - bine efforts to obtain top-of-the-range research speakers, taking alternate turns for location. Dr. Tom Clouse teaches dancing at the North - This year we are the hosts, and thanks to Mike east Florida Ataxia Support Group meeting Fernandes, our ACARM expert organizer, a We discussed a group social gathering and large turnout is expected as usua l! The next potluck on September 27 in St. Augustine at the regular meeting is October 11 in Lafayette, CA, Captain’s Quarters Meeting Room to celebrate as above. International Ataxia Awareness Day. Our next ataxia support meeting will be held Orange County Ataxia Support Group on November 8 at Baptist South Hospital. By Theresa Gonzales We are planning to have a speech therapist as our The Orange County Ataxia Support Group guest speaker. meets the third Saturday of each month at the Orange Coast Memorial Medical Center (9920 Northern California Talbert Ave.) in Fountain Valley on the ground Ataxia Support Group floor near the cafeteria from 1:30 to 4:00 p.m. By Rebecca Douglass At our last meeting on July 19, Daniel Navar The quarterly meeting of NCASG was held at (our group leader), organized for a massage ther - Our Savior’s Lutheran Church in Lafayette, CA, apist, Terry Soloman, and his students to come on July 12. We had a moderate number of atten - dees, and lunch was a salad bar in honor of the Continued on page 36 Page 36 Generations Fa ll 2008

Chapter and Support Group News Diego support groups. We will participate in the Continued from page 35 Walk & Roll on September 27. For more information about the Orange and individually offer massages to everyone in County Ataxia Support Group, please visit www. attendance. Terry was a speaker during ACARM ataxia.org/chapters/OrangeCounty/default.aspx . 2007 at the Irvine Hilton. At our June 21 meeting we had an informative Tampa Bay Ataxia Support Group presentation on financial considerations for people with disabilities. Helen Bass explained By Crystal Frohna in-depth the benefits California’s state-funded Our November 8 meeting will be our Fifth Medicaid and Social Security Disability Insur - Annual Thanksgiving Feast. Each member ance provide. This presentation was most brings part of the meal to share among the group, informative. anything from turkey and stuffing down to apple pie. This brings us a unique opportunity to get together from noon to 4 p.m., with open discus - sion as a part of the meeting. We are very pleased to have Dr. Theresa Zesiewicz, a cutting-edge researcher in the treat - ment of ataxia patients, as our speaker. Dr. Zesiewicz has been conducting trials at the Uni - versity of South Florida for some time and several of our members have participated with amazing results – as much as 7 0% improvement in symp - toms! She will be reporting on her current study, let us know what is coming up, and she hopes to find more volunteers. She works with only certain types of ataxia, so only some of our The Orange County Ataxia Support Group membership will qualify for any given trial. This at the Abilities Expo booth in Anaheim is exciting stuf f! We look forward to her presen - Recent events include several group outings tation. I just found out from a “little birdie” and with the Casa Colina Rehabilitation Center, confirmed with Dr. Tom Clouse that he will also including kayaking, sailing, whale watching, attend our meeting! camping at Catalina, CA, and enjoying water We will also hold election of officers for the sports at Lake Havasu, AZ ... a lot of fun for first time since our 2006 Annual Meeting and are everyone involved. In April, we also did a trip to hoping to find some “new blood” with fresh the Aquarium of the Pacific in Long Beach, CA, ideas for 2009. I hope you are as pumped as I am followed by late lunch at a local restaurant. for this meeting. You’ll be hearing from me The Orange County Ataxia Support Group in the coming months about finalizing the menu hosted a booth for NAF at the Abilities Expo and confirming the attendance. You can’t miss from May 30 to June 1 at the Anaheim Conven - this one! tion Center, where friends gathered together for socializing and dinner Saturday evening. Please keep up up-to-date on your chapter and We look forward to celebrating International support group activities by sending photos and articles Ataxia Awareness Day in September in a collab - to [email protected]. The deadline for the Winter issue orating effort with the Los Angeles and San is November 7. Fa ll 2008 Generations Page 37

NAF Merchandise BOOKS VIDEO / CD Three Wheels by Rebecca Cummings Baldwin Ballads of a Family Man CD True personal, heart-warming story of W! 10 songs in memory of Billa Ballard. $5 of purchase a woman with ataxia. A portion of the NE price goes to support the work of the NAF. $13 proceeds supports the NAF. Paperback. $15.99 “Together there is Understandin g” VH S or DVD Ten Years to Live by Henry Schut Continuation and expansion of “Together There is The story of the Schut family’s struggle with heredi - Hope.” 5 0-minute in-depth look at ataxia and ataxia tary ataxia and the impact it had on this extended research. VHS $20 or DVD $25 family. Paperback, photos. $8.75 Living with Ataxia by Martha Nance, MD SHIRTS / MISCELLANEOUS Compassionate, understandable explanation with 2008 Annual Membership Meeting T -Shirt ideas on how to live with ataxia. Paperback. $14 Dark blue with “Blazing a Trail in Healing Wounded Doctor -Patient Relationships Research” logo. Various sizes. $ 10 NEW! by Linda Hanner and contributor John J. Witek, MD NAF Shoulder Bag Offers demonstrations of how effective dialog can Blue with white NAF logo. 11x 15x 2 inches. $ 10 help move patients and doctors to productive relationships. Paperback. $10 NAF Polo Shirt Royal blue w/ white embroidered NAF logo. $2 7.50 Friedreich’s Ataxia Research Cookbook Julie Karjalahti of Savage, Minnesota has published NAF Denim Shirt this cookbook to raise money for FA research. Denim with white embroidered NAF logo. $2 7.50 Includes recipes from around the U.S. $12 “Ataxia is not a foreign cab” T -Shirt Recipes and Recollections by Kathryn Hoefer Smith White. New design. Sizes small to XXX -large. $ 10 Full of delicious recipes and recollections, this book “Ataxia is not a foreign cab” Sweatshirt is perfect for fund raisers. Proceeds go towards FA Ash colored. Sizes small to XXX -large. $20 research. Paperback. $10 NAF Baseball Caps Managing Speech & Swallowing Problems White w/ blue embroidered NAF logo or blue w/ by G.N. Rangamani, PdD, CCC-SLP white embroidered logo. Velcro strap for sizing. $ 10 A basic guide to understanding and managing Window Cling or Bumper Sticker speech and /or swallowing problems. $ 7.50 $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 patients. NAF Ataxia Awareness Ribbon Magnet Paperback. $5 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): SUBTOTAL: ______CIRCLE ONE: Visa Mastercard Shipping: (Add) $5.00 NAME ON CARD: ______(Outside U.S. add additional $4) ______CARD #: ______ORDER TOTAL: ______EXP DATE :______PLEASE ALLOW 4-6 WEEKS FOR DELIVERY SIGNATURE : ______Page 38 Generations Fa ll 2008 Chapte rs, Support Gr oups and Ambassadors The following is a list of National Ataxia Foundation chapters, support groups and ambassadors. The use of these names, addresses and phone numbers for any purpose other than requesting information regarding NAF or joining a chapter or support group is strictly prohibited. We encourage you to contact the chapter or group nearest you. Chapters TUCSON AREA S.G. Bart Beck Chesapeake Chapter 7665 E. Placita Luna Preciosa Tucson, AZ 85710 Carl J. Lauter, President (520) 885-8326 3200 Baker Circle, I-117 E-mail: [email protected] Adamstown, MD 21710-9666 Web: www.geocities.com/azataxiasg (301) 644-1836 www.ataxia.org/chapters/Tucson/default.aspx E-mail: [email protected] Web: www.geocities.com/HotSprings/Oasis/4988/ California www.ataxia.org/chapters/Chesapeake/default.aspx LOS ANGELES ATAXIA S.G. Louisiana Chapter Sid Luther 339 W. Palmer, Apt. A Carla Hagler, President Glendale, CA 91204 PMB 51056 (818) 246-5758 2250 Gause Blvd. E-mail: [email protected] Slidell, LA 70461 Web: www.geocities.com/HotSprings/Falls/6629/ (985) 643-0783 www.ataxia.org/chapters/LosAngeles/default.aspx E-mail: [email protected] Jim Fritz Web: www.angelfire.com/la/ataxiachapter (310) 397-5208 www.ataxia.org/chapters/Louisiana/default.aspx E-mail: [email protected] Mississippi Chapter Northern California S.G. Camille Daglio, President Deborah Omictin P.O. Box 17005 26840 Edridge Ave. Hattiesburg, MS 39404 Hayward, CA 94544 E-mail: [email protected] (510) 783-3190 www.ataxia.org/chapters/Mississippi/default.aspx E-mail: [email protected] Web: www.geocities.com/casupport/ Support Groups www.ataxia.org/chapters/NorthernCalifornia/default.aspx Alabama Orange County S.G. BIRMINGHAM S.G. Daniel Navar 829 W. Gary Ave. Becky Donnelly Montebello, CA 90640 16 The Oaks Circle (323) 788-7751 Hoover, AL 35244 E-mail: [email protected] (205) 987-2883 Web: www.geocities.com/ocasgg/ E-mail: [email protected] www.ataxia.org/chapters/OrangeCounty/default.aspx www.ataxia.org/chapters/Birmingham/default.aspx San Diego S.G. Arizona Earl McLaughlin PHOENIX AREA S.G. 2087 Granite Hills Dr. Rita Garcia El Cajon, CA 92019 2322 W. Sagebrush Dr. (619) 447-3753 Chandler, AZ 85224-2155 S.G. e-mail: [email protected] (480) 726-3579 Earl’s e-mail: [email protected] E-mail: [email protected] Web: www.geocities.com/ataxia_sdasg www.ataxia.org/chapters/Phoenix/default.aspx www.ataxia.org/chapters/SanDiego/default.aspx
Fa ll 2008 Generations Page 39

Colorado E-mail: [email protected] DENVER AREA ATAXIA S.G. Richard Carr Donna & Tom Sathre 120 South Elm 5902 W. Maplewood Dr. Mount Prospect, IL 60056 Littleton, CO 80123 (847) 253-2920 (303) 794-6351 Fax: (801) 640-8602 E-mail: [email protected] E-mail: [email protected] www.ataxia.org/chapters/Chicago/default.aspx www.ataxia.org/chapters/Denver/default.aspx METRO AREA CHICAGO ATAXIA S.G. Connecticut Christopher Marsh See Tri-State Ataxia S.G. under New York 5633 N. Kenmore, Apt. 059 Chicago, IL 60660 Florida (773) 334-1667 NORTHEAST FLORIDA S.G. E-mail: [email protected] June McGrane http: //health.groups.yahoo.com/group/u-r-notalone/ 54 Troon Terrace www.ataxia.org/chapters/ChrisMarsh/default.aspx Ponte Vedra, FL 32082-3321 (904) 273-4644 Indiana E-mail: [email protected] SOUTHERN INDIANA ATAXIA S.G. www.ataxia.org/chapters/NortheastFlorida/default.aspx Monica Smith ORLANDO ATAXIA S.G. 1102 Ridgewood Dr. Apt.4 Jim Ellson Huntingburg, IN 47542 E-mail: [email protected] or [email protected] (812) 630-4783 www.ataxia.org/chapters/Orlando/default.aspx E-mail: [email protected] www.ataxia.org/chapters/Louisville/default.aspx TAMPA BAY S.G. Crystal (Chris) Frohna Louisiana 9753 Elm Way See Louisiana Chapter Tampa, FL 33635 (813) 453-1084 Maine E-mail: [email protected] MAINE SUPPORT GROUP Web: www.flataxia.org Kelley Rollins www.ataxia.org/chapters/TampaBay/default.aspx P.O . Box 113 Bowdoinham, ME 04008 Georgia E-mail: [email protected] GREATER ATLANTA AREA S.G. Monique Godbout Greg Rooks 56 King Rd. 320 Peters St., Unit 12 Lisbon, ME 04250 Atlanta, GA 30313 E-mail: [email protected] (404) 822-7451 Web: www.ataxiaME.com E-mail: [email protected] www.ataxia.org/chapters/Maine/default.aspx Dave Zilles 2400 Kimbrough Ct. Maryland Atlanta, GA 30350 HOWARD COUNTY S.G. (770) 399-6710 Tim Daly E-mail: [email protected] (410) 715-1241 Lynn Robinette E-mail: [email protected] 1971 Sumter Court Web: www.geocities.com/hcasg/ Lawrenceville, GA 30044 www.ataxia.org/chapters/HowardCounty/default.aspx (770) 982-0275 Massachusetts E-mail: [email protected] NEW ENGLAND S.G. www.ataxia.org/chapters/Atlanta/default.aspx Donna & Richard Gorzela Illinois 45 Juliette St. GREATER CHICAGO AREA ATAXIA S.G. Andover, MA 01810 Craig Lisack (978) 475-8072 410 W. Mahogany Ct., Unit 505 www.ataxia.org/chapters/NewEngland/default.aspx Palatine, IL 60067 (847) 496-7544 Continued on page 40 Page 40 Generations Fa ll 2008

Chapters, Suppo rt Groups and Ambassadors E-mail: [email protected] Continued from page 39 www.ataxia.org/chapters/SouthernNY/default.aspx TR I-STATE ATAXIA S.G. Michigan Jeannie Soto-Valencia DETROIT AREA ATAXIA S. G. Beth Israel Dept. of Neurology, Suite 2R Tanya Tunstull 10 Union Square East 20217 Wyoming New York, NY 10003 Detroit, MI 48221 (212) 844-8711 (313) 820-6065 Denise Mitchell Email: [email protected] E-mail: [email protected] Minnesota www.ataxia.org/chapters/Tri-State/default.aspx TWIN CITIES AREA S.G. North Carolina Lenore Healey Schultz See South/North Carolina 2549 32nd Ave. S. Ohio Minneapolis, MN 55406 CENTRAL OHIO S.G. (612) 724-3784 E-mail: [email protected] Cecelia Urbanski www.ataxia.org/chapters/TwinCities/default.aspx 7852 Country Court Mentor, OH 44060 Mississippi (440) 255-8284 See Mississippi Chapter E-mail: [email protected] Missouri www.ataxia.org/chapters/CentralOhio/default.aspx KANSAS CITY S.G. Oregon Jim Clark WILLAMETTE VALLEY ATAXIA S.G. 6605 N. Holmes Malinda Moore, CCC-SLP Gladstone, MO 64118 Albany General Hospital (816) 468-7260 1046 Sixth Ave. S.W. E-mail: [email protected] Albany, OR 97321 www.ataxia.org/chapters/KansasCity/default.aspx (541) 812-4162 Fax: (541) 812-4614 Lois Goodman E-mail: [email protected] 17700 East 17th Terrace Court S #102 www.ataxia.org/chapters/Willamette/default.aspx Independence, MO 64057 Pennsylvania (816) 257-2428 www.ataxia.org/chapters/KansasCity/default.aspx SE PENNSYLVANIA S.G. Liz Nussear MID-MISSOURI ATAXIA S.G. (610) 27 2-1502 Roger Cooley E-mail: [email protected] 1609 Cocoa Court www.ataxia.org/chapters/SEPennsylvania/default.aspx Columbia, MO 65202 (573) 474-7232 before noon South/North Carolina E-mail: [email protected] CAROLINAS S.G. www.ataxia.org/chapters/RogerCooley/default.aspx Cece Russell New Jersey 1305 Cely Rd. Easley, SC 29642 See Tri-State Ataxia S.G. under New York (864) 220-3395 New York E-mail: [email protected] CENTRAL NEW YORK ATAXIA S.G. www.ataxia.org/chapters/Carolinas/default.aspx Linda Johnson Texas 2849 Bingley Rd. GOLDEN TRIANGLE AREA S.G. Cazenovia, NY 13035 Dana LeBlanc E-mail: [email protected] 2801 W. Sunset #59H www.ataxia.org/chapters/CentralNewYork/default.aspx Orange, TX 77630 SOUTHERN NY AREA ATAXI A/HSP S.G. (409) 883-5570 Ann Lakin E-mail: [email protected] 200 Diplomat Dr. #1L Web: http: //ladyd1973.tripod.com/index.html Mt. Kisco, NY 10549 www.ataxia.org/chapters/GoldenTriangle/default.aspx
Fa ll 2008 Generations Page 41

HOUSTON AREA S.G. Chandu Prasad George.CH, Angela Cloud H-No:5-9520, Sri Laxmi Nagar Colony, Old Alwal 9405 Hwy 6 South Secunderabad, 500 010 India Houston, TX 77083 Phone: 0091-040-27971043 (281) 693-1826 Mobile: 0091-9949019410 Fax: 091-040-27971043 E-mail: [email protected] E-mail: [email protected] www.ataxia.org/chapters/Houston/default.aspx E-mail: [email protected] NORTH TEXAS S.G. www.ataxia.org/chapters/Chandu/default.aspx David Henry Jr. Ambassador Listing 7 Wentworth Ct. Trophy Club, TX 76262 Alabama E-mail: [email protected] Dianne Blain Williamson www.ataxia.org/chapters/NorthTexas/default.aspx 123 Leigh Ann Rd. Utah Hazel Green, AL 35750 (256) 828-4858 Dr. Julia Kleinschmidt E-mail: [email protected] Moran Eye Center, U of Utah www.ataxia.org/chapters/DianneWilliamson/default.aspx 50 N. Medical Dr. Salt Lake City, UT 84132 Millard H. McWhorter III (801) 585-2213 P.O. Box 1457 E-Mail: [email protected] Andalusia, AL 36420 www.ataxia.org/chapters/Utah/default.aspx (334) 222-3423 E-mail: [email protected] Virginia www.ataxia.org/chapters/MillardMcWhorter/default.aspx See Chesapeake Chapter Arkansas Washington Judy and David King SEATTLE AREA 17 Sanchez Point Milly Lewendon Hot Springs Village, AR 71909 14104 107th Ave. NE E-mail: [email protected] Kirkland, WA 98037 www.ataxia.org/chapters/JudyKing/default.aspx (425) 823-6239 Milly’s e-mail: [email protected] California S.G. e-mail: [email protected] Barbara Bynum www.ataxia.org/chapters/Seattle/default.aspx 3801 W. Bailey Merced, CA 95340 El ectronic Support Groups (209) 383-1275 E-mail: [email protected] E-NAF (ELECTRONIC NAF) S.G. www.ataxia.org/chapters/BarbaraBynum/default.aspx Jim Kardos 1283 Westfield SW Mike Fernandes North Canton, OH 44720 7251 Brentwood Blvd. #114 (330) 499-4060 Brentwood, CA 94513 E-mail: [email protected] (925) 516-6906 www.ataxia.org/chapters/E-NAF/default.aspx E-mail: [email protected] www.ataxia.org/chapters/MikeFernandes/default.aspx International Support Groups Mike Betchel 315 W. Alamos, Apt. 141 Canada — British Columbia Clovis, CA 93612 ATAXIA SOCIETY VANCOUVER (559) 281-9188 Glenn ter Borg E-mail: [email protected] #204-7460 Moffatt Rd.. www.ataxia.org/chapters/mike/default.aspx Richmond, B.C. V6Y 3S1 (604) 278-0017 Connecticut E-mail: [email protected] Terre Di Placito Web: www.bcataxia.org 107 Barton St. www.ataxia.org/chapters/Vancouver/default.aspx Torrington, CT 06790 (860) 489-5092 India SAMAG (INDIA ATAXIA S.G.) Continued on page 42 Generations Fa ll 2008 Page 42

Chapters, Suppo rt Groups and Ambassadors Kentucky Continued from page 41 Janice Johnson 8555 Brownsville Rd. www.ataxia.org/chapters/TerreDiPlacito/default.aspx Brownsville, KY 42210 (270) 597-3854 Florida www.ataxia.org/chapters/JaniceJohnson/default.aspx Christina Sugars Albin Douglas Johnson 302 Beach Dr. 10602 Tarrytowne Dr. Destin, FL 30541 Louisville, KY 40272 (850) 654-2817 (502) 751-4585 E-mail: [email protected] E-mail: [email protected] www.ataxia.org/chapters/ChristinaSugars/default.aspx www.ataxia.org/chapters/AlbinJohnson/default.aspx Jim Henderson 3212 Lee Shore Loop Maryland Orlando, FL 32820 Karen Rosenberger (407) 568-9092 6411 Spring Forest Rd. E-mail: [email protected] Frederick, MD 21701 www.ataxia.org/chapters/JimHenderson/default.aspx (301) 682-5386 Thomas Clouse, MD E-mail: [email protected] 1604 Cheshire Circle S. www.ataxia.org/chapters/KarenRosenberger/default.aspx Lehigh Acres, FL 33936 (239) 989-5150 Michigan E-mail: [email protected] Lynn K. Ball www.ataxia.org/chapters/ThomasClouse/default.aspx 3740 Dublin NW Grand Rapids, MI 49534 Georgia (616) 73 5-2303 Kristie Adams E-mail: [email protected] 258 Beaufort Rd. www.ataxia.org/chapters/LynnBall/default.aspx Savannah, GA 31419 E-mail: [email protected] Minnesota www.ataxia.org/chapters/KristieAdams/default.aspx Lori Goetzman Illinois 5179 Meadow Dr. Rochester, MN 55904 Elaine Darte (507) 282-7127 36 Lindorf Dr. E-mail: [email protected] Belleville, IL 62223 www.ataxia.org/chapters/LoriGoetzman/default.aspx (618) 397-3259 E-mail: [email protected] Julie Schuur www.ataxia.org/chapters/SouthernIllinois/default.aspx 218 Cashin Dr. Luverne, MN 56156 Kevin Donnelli (507) 283-2555 6525 Thomas Parkway E-mail: [email protected] Rockford, IL 61114 www.ataxia.org/chapters/JulieSchuur/default.aspx (815) 633-8620 E-mail: [email protected] Missouri www.ataxia.org/chapters/KevinDonnelli/default.aspx Susan L. Strode, PhD Indiana 12 Jackson #811B Jenney Roemke Jefferson City, MO 65101 4522 Shenandoah Circle W. (573) 659-4759 Ft. Wayne, IN 46835 E-mail: [email protected] (219) 485-0965 Web: www.dr-susie.com www.ataxia.org/chapters/JenneyRoemke/default.aspx New York Iowa Valerie Ruggiero Emily Medina 36 West Redoubt Rd. 3720 Patricia Dr. #1 Fishkill, NY 12524 Urbandale, IA 50322 (845) 897-5632 (515) 727-8713 E-mail: [email protected] E-mail: [email protected] www.ataxia.org/chapters/ValerieRuggiero/default.aspx
Fa ll 2008 Generations Page 43

Diane P. Hall Washington 210 E. Utica St. Linda Jacoy Buffalo, NY 14208 PO Box 19045 (716) 881-0677 Spokane, WA 99217 www.ataxia.org/chapters/DianeHall/default.aspx (509) 482-8501 Ohio www.ataxia.org/chapters/Spokane/default.aspx James Kardos International Ambassadors 1283 Westfield S.W. North Canton, OH 44720 American Samoa (330) 499-4060 E-mail: [email protected] Bob Coulter www.ataxia.org/chapters/E-NAF/default.aspx PO Box 9062 American Samoa 96799 Joe Miller (684) 688-2437 Box 148 Mesopotamia, OH 44439 Australia (440) 693-4454 Renee Moore (Nee McCallum) E-mail: [email protected] 44 Lotherton Way www.ataxia.org/chapters/JoeMiller/default.aspx Hocking, W. Australia 6065 61-8-9404-7052 Oklahoma E-mail: [email protected] Mark Dvorak www.ataxia.org/chapters/ReneeMoore/default.aspx 915 Thistlewood Norman, OK 73072 Canada (405) 447-6085 Susan M. Duncan E-mail: [email protected] #401-1330 Richmond Rd. www.ataxia.org/chapters/Ambassador/default.aspx Ottawa, Ontario K2B 8J6 Darrell Owens (613) 820-7990 5700 S.E. Hazel Rd. E-mail: [email protected] Bartlesville, OK 74006 www.ataxia.org/chapters/SusanDuncan/default.aspx (918) 331-9530 Prentis Clairmont E-mail: [email protected] 299 Somerset West, Apt. 402 www.ataxia.org/chapters/DarrellOwens/default.aspx Ottawa, Ontario K2P 2L3 (613) 864-8545 Pennsylvania E-mail: [email protected] William Alden Lee, MBA www.ataxia.org/chapters/PrentisClairmont/default.aspx 4700 Oakhurst Blvd., #316 Terry Greenwood Harrisburg, PA 17110 10 Saxon Bay (717) 652-3512 Winnipeg, Manitoba R3Y 1G8 E-mail: [email protected] (204) 488-4155 www.ataxia.org/chapters/WilliamAldenLee/default.aspx E-mail: [email protected] Texas www.ataxia.org/chapters/TerryGreenwood/default.aspx Jose Julio Vela India 6702 Long Meadow Abhinav Kedia Corpus Christi, TX 78405 207 L Model Town, Near Hero Ground (361) 993-9006 Panipat –132103 www.ataxia.org/chapters/JoseJulioVela/default.aspx Haryana, India Barbara Pluta Phone: 0091-0180-2681157 356 Las Brisas Blvd. Mobile: 0091-0-9466355238 Seguin, TX 78155-0193 E-mail: [email protected] (830) 557-6050 www.ataxia.org/chapters/AbhinavKedia/default.aspx O E-mail: [email protected] www.ataxia.org/chapters/BarbaraPluta/default.aspx Virginia Attention Chapter and Group Leaders Dick Sargent Please help us keep your information and schedules (703) 321-9143 E-mail: [email protected] up-to-date by e-mailing updates to lo [email protected] . www.ataxia.org/chapters/DickSargent/default.aspx Page 44 Generations Fa ll 2008 Ca lendar of Events Saturday, October 11, 2008 Daniel Navar at [email protected] . www.ataxia.org/ Kansas City Area Ataxia Support Group chapters/OrangeCounty/default.aspx 2- 4 p.m. at the Northeast Library, 65 Wilson Ave., Monday, October 20, 2008 Kansas City, MO. Contact Lois Goodman at (620) 22 3- 1996 or Jim Clark at clarckstone9348@ Mi d- Missouri Support Group sbcglobal.net . www.ataxia.org/chapters/Kansas 10 a.m. at the Daniel Boone Regional Library in City/default.aspx Columbia, MO. Contact Roger Cooley at (573) 474- 7232 (before noon) or [email protected] . North Texas Ataxia Support Group Meeting www.ataxia.org/chapters/RogerCooley/default.aspx 10 a.m .- noon at Los Colinas Medical Center, 6800 MacArthur Blvd. at Hwy 161, Irving, TX. Contact Tuesday, October 21, 2008 David Henry, Jr. www.ataxia.org/chapters/North Twin Cities Ataxia Support Group Texas/default.aspx 7 p.m. at Presbyterian Home in Roseville (located Northern California Ataxia S.G Meeting off 35W on County Rd D). Contact Lenore H. Schultz 11:30 a.m .- 3:00 p.m. at Our Savior’s Lutheran at (612) 724-3784 or [email protected] . Church, 1035 Carol Lane, Lafayette, CA. Contact www.ataxia.org/chapters/TwinCities/default.aspx Deb with any questions at [email protected] . www.ataxia.org/chapters/NorthernCalifornia/ Sunday, October 26, 2008 default.aspx Seattle Area Ataxia Support Group Meeting San Diego Ataxia Support Group Meeting 2-4 p.m. at Madison House Retirement Commu - 1-3 p.m. at Sharp Rehabilitation Center, 2999 nity, 12215 NE 128th St., Kirkland, WA. Contact Health Center Dr. on the East side of Hwy. 163 Milly Lewendon at [email protected] . between Genessee Ave. and Mesa College Dr., www.ataxia.org/chapters/Seattle/default.aspx behind Sharp Memorial Hospital. There is plenty of free parking. www.ataxia.org/chapters/SanDiego/ Saturday, November 8, 2008 default.aspx “Working to Cure Ataxia” Fundraiser SE Pennsylvania Ataxia S.G. Meeting 115 Bourbon St., 3359 W. 115th St., Merrionette 10 -11:30 a.m. at Mercy Suburban Hospital, Park, IL. www.cureataxia.org 2701 Dekalb Pike, Norristown, PA. Contact Liz Greater Atlanta Ataxia Support Group Meeting Nussear at (610) 272-1502 or [email protected] . 1 p.m. at Emory Center for Rehabilitation Medicine, www.ataxia.org/chapters/SEPennsylvania/ 1441 Clifton Rd., Room 101, Atlanta GA. default.aspx www.ataxia.org/chapters/Atlanta/default.aspx Southern NY Area Ataxia/HSP Support Group Kansas City Area Ataxia Support Group 1:00 p.m. at Our Savior Lutheran Church, 1400 2- 4 p.m. at the Northeast Library, 65 Wilson Ave., Rt. 52 Fishkill, NY in Rooms 107 & 108. Contact Kansas City, MO. Contact Lois Goodman at Ann Lakin at [email protected] . www.ataxia.org/ (620) 22 3- 1996 or Jim Clark at clarckstone9348@ chapters/SouthernNY/default.aspx sbcglobal.net . www.ataxia.org/chapters/Kansas Saturday, October 18, 2008 City/default.aspx Chicago Metro Support Group Los Angeles Area Ataxia Support Group 1-3 p.m. at Chicago Public Librar y–Edgewater 2- 4 p.m. at the Westside Center for Independent Branch, 1210 West Elmdale Ave,, Chicago, IL. Living, 12901 Venice Beach, CA. Contact Sid Luther Contact Christopher Marsh at (312) 217-7737 or at (818) 246-5758. www.ataxia.org/chapters/Los [email protected] . www.ataxia.org/chap - Angeles/default.aspx ters/ChrisMarsh/default.aspx North Texas Ataxia Support Group Meeting Orange County Ataxia Support Group Meeting 10 a.m .- noon at Los Colinas Medical Center, 6800 1:3 0- 4 p.m. at Orange Coast Memorial Medical MacArthur Blvd. at Hwy 161, Irving, TX. Contact Center (in the basement, next to the cafeteria), David Henry, Jr. www.ataxia.org/chapters/North 9920 Talbert Ave., Fountain Valley, CA. Contact Texas/default.aspx
Fa ll 2008 Generations Page 45

Northeast Florida Ataxia S.G. Meeting www.ataxia.org/chapters/TwinCities/default.aspx 1 p.m. at Baptist Medical Center, South Conference Roo m–Azalea & Begonia Rooms. Contact June Saturday, December 13, 2008 McGrane at (904) 273-4644 or jmcgranepvb@ Kansas City Area Ataxia Support Group bellsouth.net . www.ataxia.org/chapters/Northeast 2- 4 p.m. at the Northeast Library, 65 Wilson Ave., Florida/default.aspx Kansas City, MO. Contact Lois Goodman at SE Pennsylvania Ataxia GS.G. Meeting (620) 22 3- 1996 or Jim Clark at clarckstone9348@ 10 -11:30 a.m. at Mercy Suburban Hospital, sbcglobal.net . www.ataxia.org/chapters/Kansas 2701 Dekalb Pike, Norristown, PA. Contact Liz City/default.aspx Nussear at (610) 272-1502 or [email protected] . North Texas Ataxia Support Group Meeting www.ataxia.org/chapters/SEPennsylvania/ 10 a.m .- noon at Los Colinas Medical Center, 6800 default.aspx MacArthur Blvd. at Hwy 161, Irving, TX. Contact Southern NY Area Ataxia/HSP Support Group David Henry, Jr. www.ataxia.org/chapters/North 1:00 p.m. at Our Savior Lutheran Church, 1400 Texas/default.aspx Rt. 52 Fishkill, NY in Rooms 107 & 108. Contact Southern NY Area Ataxia/HSP Support Group Ann Lakin at [email protected] . www.ataxia.org/ 1:00 p.m. at Our Savior Lutheran Church, 1400 chapters/SouthernNY/default.aspx Rt. 52 Fishkill, NY in Rooms 107 & 108. Contact Tampa Bay Ataxia Support Group Ann Lakin at [email protected] . www.ataxia.org/ Annual Thanksgiving Dinner chapters/SouthernNY/default.aspx Noo n-3 p.m. at Feathersound Community Church, Monday, December 15, 2008 Clearwater, FL. Contact Chris Frohna at (813) 453- 1084 or [email protected] . www.ataxia.org/ Mid-Missouri Support Group chapters/TampaBay/default.aspx 10 a.m. at the Daniel Boone Regional Library in Columbia, MO. Contact Roger Cooley at (573) 474- Saturday, November 15, 2008 7232 (before noon) or [email protected] . Orange County Ataxia Support Group Meeting www.ataxia.org/chapters/RogerCooley/default.aspx 1:3 0- 4 p.m. at Orange Coast Memorial Medical Tuesday, December 16, 2008 Center (in the basement, next to the cafeteria), 9920 Talbert Ave., Fountain Valley, CA. Contact Twin Cities Ataxia Support Group Daniel Navar at [email protected] . www.ataxia.org/ 7 p.m. at Presbyterian Home in Roseville (located chapters/OrangeCounty/default.aspx off 35W on County Rd D). Contact Lenore H Schultz at (612) 724-3784 or [email protected] . Sunday, November 16, 2008 www.ataxia.org/chapters/TwinCities/default.aspx Chicago Area Ataxia Support Group Meeting Saturday, December 20, 2008 1 p.m. at the Good Samaritan Hospita l–White Oak Room, 3815 Highland Ave., Downers Grove, IL. Orange County Ataxia Support Group Meeting Contact Craig Lisack at (847) 496-7544 or 1:3 0- 4 p.m. at Orange Coast Memorial Medical [email protected] . www.ataxia.org/chapters/ Center (in the basement, next to the cafeteria), Chicago/default.aspx 9920 Talbert Ave., Fountain Valley, CA. Contact Daniel Navar at [email protected] . www.ataxia.org/ Monday, November 17, 2008 chapters/OrangeCounty/default.aspx O Mid-Missouri Support Group 10 a.m. at the Daniel Boone Regional Library in Columbia, MO. Contact Roger Cooley at (573) 474- 7232 (before noon) or [email protected] . www.ataxia.org/chapters/RogerCooley/default.aspx Tuesday, November 18, 2008 Twin Cities Ataxia Support Group 7 p.m. at Presbyterian Home in Roseville (located off 35W on County Rd D). Contact Lenore H. Schultz at (612) 724-3784 or [email protected] . Page 46 Generations Fa ll 2008 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 May 2008 through August 2008. We are sorry that we cannot separate the memorial contributions from those made in honor of someone, as sometimes the person making the contribution does not let us know if the contribution is a memorial or in honor of their friend or family member. Alexander Family Elizabeth Chiu Kenny Firth, Jr. Donna Huskins Geneva McCutchen Barbara Alvord William Chwee Charlie Fisher Scottie Jackson Charley Lenda Joann Ciecierski Kevin Fleming Lisa Jaffe McLaughlin Anders Barth Katie Clark Alan Flood Marian Johnson Earl McLaughlin Jackie Anderson John Closss Ellis Foster, Jr. Betty Jones Gregory Mead Les Anderson Lucille Cote Harold Frediani Eileen Jubina Reggie Mellon Linda Anderson Heather Cox Julie Frenz Adele Karas Suzanne Merrill Wayne Anderson Judy Cox Marjorie Gallmeyer Robert Keithly Susan Metcalfe Shahid Ansari Hal Crawford Gregson Gann William Kingsmore Guy Miller Beth Asp Kimberly Critahly Rita Garcia Brian Kohl Denise Mindle Sharon Baggett Richardson Crook Mary Gates Jordan Kohl Jim Mitchell Jeffry Bailey Kevin Crowley Richard Gehron Jamie Kosieracki Minnie Molini Junia Balke Robert Currier Jeffrey Geye Sabine Kuntze Mollie Montgomery Vicki Balogh Marcia Cyganowski Tanya Goldman Leonilla Lake Jennifer Moon Donald Banta Mary Danson Penny Golminas Dan Lane Dolores Morello Joe Barnes Jeannette Davis Regis Gottschalk John Lane, Sr. Axie Mouton Dianne Bates Granville Deane, Jr. Ricard Green David Lanning Carol Mullen Kay Bell Jerry Denney Paschal Guercio Rodger Larsen Grace Mutschler Jennifer Bellini Janice De Saw Annabel Guffin Barbara Laster Bruce Nanninga Marylynn Bircher Anita Dillaha George Guffin Clarke Lauchmen Chip Niles Kim Bishop Thomas Di Pietro Anne Gulliver Jan Lawrence Joyce O'Leary Phillip Blackmore Carlo DiSilvestro Patty Gutierrez Linda Lee Julia Passarelli Stephanie Blake Celestina Madonna Haase Amy Lenahan Trent Pavelec Emma Bond DiSilvestro Bryan Hackett John Leto Tyrell Pavelec Harold Brady Gordon Dixon Wilbur Hackett Tony Lewendon Adam Payne John Brennan Kevin Dixon Bert Hall Lewis Family Patrick Pisano Jane Brewer Herman Ruth Hanbury Mark Lingo Jamie Plorde Emma Brumbach Dodson, Jr. Edward Hardwicke Peggy Littlejohn Dawn Pollak Kyle Bryant Herman Barbara Hartman Lily Lock Sunaro Prom Jessica Budreau Dodson, Sr. Gary Hartsock Michael Long Rolando Ramos Chris Buechel Joseph Drake James Hay Stephanie Kathy Renn Donald Burdett Sandy Dudzic David Henry, Jr. Lovelock James Riley Donna Burdett Angie Duffy Nellie Henry Maxine Lower Janet Riley Ellen Burdett Mary Duffy Gloria Herman David P Lowsley Ricky Roder Keith Burdett Michael Duffy Thomas Hill David W Lowsley Sharon Roder Robert Burdett Diane Dusbiber Johnny Hogan Carly Magnuson Trevor Rosenberg Brenda Callis Andrew Egeressy Helen Horndasch Phyllis Marino Melanie Edward Callis David English Sr Lois Hough Deborah Markham Rosthauser Evelyn Camacho Lindsay Ervin Lynda Howell Lisa Marsh James Russell Sharon Cameron Joseph Falcon Tressie Howell Anne Mattos Belinda Ryals Cheryl Chapman Katherine Falcon James Huddleston Lisa Maypother Jeremey Ryan Richard Chin Brenda Firth R.D. Hunt Betty McAdam Jane Ryba
Fa ll 2008 Generations Page 47

Marilyn Saunders Collin Shannon Joey Staiger Bonnie Tucker Anna Widing Derek Semler Cynthia Shannon Joseph Stamler Clyde Turner Martina Wiese Harley Kevin Shannon John Surabian Nancy Van Twuyner Lena Windhorst Scheffler, Sr. Sherry Sharp Ernie Talarico Rudy Van’t Hoff Normal Winn Josephina Jacqueline Shears Tiffinay Talarico- Dianna Vawters James Wisniewski Schembre- Michael Shears Compiano Joanna Warner Michelle Wolfson McCabe Steve Shears Fayne Thiel Mathew Waseity Pearl Womeldorf Lucia Schone Dianne Simao Bernice Thien Sarah Wells Nicholas Woods Rogene Schreiber Yulah Sisler Cathy Thomas June West Margaret Working Harold Schut Robin Smith Aymee Torres- Susan West William Workley David Scroggins Windy Smith- Michels Adam Westcott Anne Wynne Janet Sczweck Stroschein Mark Torvinen Gary Wettstein Thomas Wynne Derek Semler Ms. Stafford Margaret Tseng Sandra Whipple Colleen Yosick O

Two Kyle Bryant Transla tional Resea rch Awards Gr anted The National Ataxia Foundation (NAF) and the in their proposal is a series of sophisticated Friedreich’s Ataxia Research Alliance (FARA) are imaging studies to further understand heart pleased to announce their collaboration in co- disease in FRDA. Their research will focus on funding two $125,000 Kyle Bryant Awards that how heart disease develops in FRDA, earlier will support promising translational research in detection of the heart disease, and the devel - Friedreich’s Ataxia (FRDA). opment of new prevention and treatment strate - After reviewing eight excellent applications, gies that would reduce heart-related disability scientific advisors from NAF and FARA selected and death. two research projects for the awards. Both awards were made possible, in part, by One recipient is the Repligen Corporation in the fundraising efforts of Kyle Bryant and his Waltham, MA, whose project is spearheaded by fellow Ride Ataxia II participants. In March 2008 principal investigator Dr. James Rusche and the group of about 50 riders made their way by co- investigator Dr. Massimo Pandolfo of Erasme cycle from Sacramento, CA to Las Vegas, NV to Hospital in Brussels, Belgium. Their research attend NAF’s annual membership meeting. involves advancing HDAC inhibitors, which are Logging roughly 60 miles each day, the group compounds that target increased levels of completed their journey in a little less than two frataxin – the protein that is severely reduced in weeks and raised more than $140,000 for FRDA FRDA. research. The investigators propose using mouse mod - Once the group arrived at the membership els to determine which HDAC inhibitor will be meeting in Las Vegas, NAF and FARA announced best to test in FRDA patients, as well as what that their respective organizations would add doses of that HDAC inhibitor will be most likely sufficient funds to bring the total of the 2008 to maximize frataxin protein levels while mini - Kyle Bryant Award to $250,000. mizing toxicity. These methods, once defined, Looking to the future, Kyle Bryant stated can form the foundation for measures performed “There is an optimism in our community of atax - as part of future clinical trials. ians. Many people think that we can actually The second award was given to a team of in - beat this thing. I am confident that our brilliant vestigators at Ohio State University, Drs. Subha doctors and researchers are doing all they can to V. Raman and Roula al-Dahhak. The two plan to find a treatment or a cure. Until we find a cure, test new ways to detect and treat FRD A- related Ride Ataxia will continue to promote an active heart disease at its earliest stages. Included and healthy lifestyle for all ataxians.” 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 or e-mail na [email protected] . 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) or relative for special occasions like birthdays, K 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 + Simply fill out this form and mail with your check K Individual $25 + or credit card information to the National Ataxia K Household $45 + Foundation. K 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: City /State /Zip ______K In Memory K In Honor K Gift Membership E-Mail ______Name ______PAYMENT INFORMATION Occasion ______Gifts are tax deductible under the fullest extent of the law. Send Acknowledgment Card to: K 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 ______