1. Ataxia ataxia information and links to national and international lay advocacy and support groups, clinics with genetic counselors and geneticists Paraparesis, Duke University, Center for Human genetics. Spinocerebellar ataxia brochure Making an Informed Choice http://www.kumc.edu/gec/support/ataxia.html

Ataxia (hereditary ataxias, Friedreich ataxia, ataxia telangiectasia, essential tremor, spastic paraplegia, spinocerebellar ataxia) National Ataxia Foundation Support Groups 2600 Fernbrook Lane, Suite 119 Minneapolis, MN 55447 Phone: 763.553.0020 Fax: 763.553.0167 E-mail: naf@ataxia.org Web site: http://www.ataxia.org/ Ataxia Telangiectasia Children's Project 668 South Military Trail Deerfield Beach, FL 33442-3023 Phone: 800.543.5728 or 954.481.6611 Fax: 954.725.1153 E-mail: info@atcp.org Web site: www.atcp.org Friedreich Ataxia Parents Group (FAPG) Web site: http://www.fortnet.org/fapg/ HSFinfo.org Hereditary Spastic Paraplegia, Familial Spastic Paraparesis National Friedreich Ataxia Group Room 10, Winchester House Kennington Park, Cranmer Rd London SW9 6EJ England Phone: 020 7582 1444 Fax: 020 7582 9444 Web site: http://glaxocentre.merseyside.org/asg.html Also See: Information for Siblings and Family Members Neurological conditions Neuromuscular conditions WeMove (Worldwide Education and Awareness for Movement Disorders), Mount Sinai Medical Center, NY NY National organizations information on genetic conditions or birth defects Ataxias: Classification , Washington University of St Louis, MO Dominant ataxias , Washington University of St Louis, MO Recessive ataxias , Washington University of St Louis, MO Familial Spinal Cord Syndromes , Washington University of St Louis, MO Systemic Ataxias (such as thyroid, and others

2. Entrez-PubMed metabolism; Friedreich ataxia/genetics*; Human; HydrogenIon Concentration;Models, Genetic; Nucleic Acid Conformation; Oligodeoxyribonucleotides http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

3. Entrez-PubMed identification of the defective gene. MeSH Terms Alleles; Apraxias/pathology;Apraxias/genetics*; ataxia/pathology; ataxia/genetics*; http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

4. OMIM ENTRY 229300 of hearing loss, Usher syndrome, Friedreich ataxia, breast cancer, prostate cancer and lung cancer. enhance and evaluate approaches to genetics and gene therapy education is another http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?229300

5. Entrez-PubMed genetics*; Apraxias/complications; ataxia/genetics*; ataxia/complications;Chromosome Mapping; Chromosomes, Human, Pair 9; DNABinding http://www.biomedcentral.com/pubmed/11586299

PubMed Nucleotide Protein Genome ... Books Search PubMed Protein Nucleotide Structure Genome PMC OMIM Taxonomy Books PopSet ProbeSet 3D Domains UniSTS Domains SNP Journals UniGene NCBI Web Site for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Browser Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Domain Links 3D Domain Links Genome Links ProbeSet Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links Show: Sort Author Journal Pub Date Text File Clipboard Order Nat Genet 2001 Oct;29(2):184-8 Related Articles, Links Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Date H, Onodera O, Tanaka H, Iwabuchi K, Uekawa K, Igarashi S, Koike R, Hiroi T, Yuasa T, Awaya Y, Sakai T, Takahashi T, Nagatomo H, Sekijima Y, Kawachi I, Takiyama Y, Nishizawa M, Fukuhara N, Saito K, Sugano S, Tsuji S. Department of Neurology, Brain Research Institute, Niigata University, 1 Asahimachi, Niigata 951, Japan.

6. Entrez-PubMed ataxia Telangiectasia/therapy; ataxia Telangiectasia/genetics*; ataxiaTelangiectasia/diagnosis; Breast Neoplasms/genetics*; Female; Human; http://www.biomedcentral.com/pubmed/10422797

PubMed Nucleotide Protein Genome ... Books Search PubMed Protein Nucleotide Structure Genome PMC OMIM Taxonomy Books PopSet ProbeSet 3D Domains UniSTS Domains SNP Journals UniGene NCBI Web Site for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Browser Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Domain Links 3D Domain Links Genome Links ProbeSet Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links Show: Sort Author Journal Pub Date Text File Clipboard Order Clin Genet 1999 May;55(5):289-304 Related Articles, Links Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene. Meyn MS. Department of Paediatrics, University of Toronto, Genetics and Genomic Biology Program, The Hospital for Sick Children, ON, Canada. meyn@sickkids.on.ca Ataxia-telangiectasia (A-T) is a pleiotropic inherited disease characterized by neurodegeneration, cancer, immunodeficiencies, radiation sensitivity, and genetic instability. Although A-T homozygotes are rare, the A-T gene may play a role in sporadic breast cancer and leukemia. ATM, the gene responsible for A-T, is homologous to several cell cycle checkpoint genes from other organisms. ATM is thought to play a crucial role in a signal transduction network that modulates cell cycle checkpoints, genetic recombination, apoptosis, and other cellular responses to DNA damage. New insights into the pathobiology of A-T have been provided by the creation of Atm-/- mice and by in vitro studies of ATM function. Analyses of ATM mutations in A-T patients and in sporadic tumors suggest the existence of two classes of ATM mutation: null mutations that lead to A-T and dominant negative missense mutations that may predispose to cancer in the heterozygous state.

7. Ataxia Clinical Resources Clinical Resources by Topic Neurology ataxia Clinical Resources Pediatrics Geriatrics genetics Clinical Guidelines Clinical Trials News Miscellaneous Resources See also Neurological Clinical Procedure Resources General Neurology http://baptistnashville-dl.slis.ua.edu/clinical/neurology/cns/ataxia.htm

Clinical Resources by Topic: Neurology Ataxia Clinical Resources Pediatrics Geriatrics Genetics Clinical Guidelines ... Miscellaneous Resources See also: Neurological Clinical Procedure Resources General Neurology Clinical Resources Ataxia Patient/Family Resources Harrison's Principles of Internal Medicine 15th Ed.-2001: Table of contents Medical Library subscription INFO Chapter 22: Weakness, Myalgias, Disorders of Movement, and Imbalance Table of contents Introduction: Access document Imbalance and Disorders of Gait: Access document Introduction: Access document Pathogenesis: Access document Approach to the Patient: Access document Chapter 364: Ataxic Disorders Table of contents Approach to the Patient: Access document Symmetric Ataxia: Access document Focal Ataxia: Access document The Inherited Ataxias: Access document Introduction: Access document Autosomal Dominant Ataxias: Access document Introduction: Access document Access document Genetics: Access document Access document Genetics: Access document Machado-Joseph Disease/SCA3: Access document Genetics: Access document Access document Autosomal Recessive Ataxias: Access document Friedreich's Ataxia: Access document Genetics: Access document Ataxia Telangiectasia: Access document Genetics: Access document Mitochondrial Ataxias: Access document Treatment: Access document Chapter 363: Parkinson's Disease and Other Extrapyramidal Disorders Table of contents Machado-Joseph Disease (Spinocerebellar Ataxia Type 3): Access document Drug-Induced Movement Disorders: Access document Treatment: Access document Neuroleptic Malignant Syndrome:

8. Genetics Research: Friedreich Ataxia Friedreich ataxia. Principal Investigators Pragna Patel, Ph.D. Arch. Neurol. in press.Bidichandani, SI, Patel, PI, and Ashizawa, T. (1998) Friedreich ataxia. http://www.bcm.tmc.edu/neurol/research/genes/genes5.html

Friedreich Ataxia Principal Investigators: Pragna Patel, Ph.D. Autosomal recessive disorder Frequency: 1-2 in 50,000 Symptoms include: progressive gait and limb ataxia, absent tendon reflexes in the legs, loss of position sense, hypertrophic cardiomyopathy Gene located on long arm of chromosome 9 Our recent discoveries include: A GAA triplet repeat expansion in intron 1 of a gene (X25) encoding the protein, frataxin, has been found as the disease-causing mutation in the majority of FRDA patients A minority of patients have a point mutation in X25 on one chromosome The GAA triplet repeat expansion interferes with X25 gene transcription The GAA triplet repeat expansion is unstable and can undergo dramatic length variation in somatic cells DNA-based diagnosis is possible by PCR or Southern analysis Selected References: Bidichandani, S.I., Purandare, S.M., Taylor E.E., Gumin,G., Machkhas,H., Harati,Y., Gibbs, R.A., Ashizawa,T., Patel, P.I. (1999) Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts, and enhanced mutagenesis in the flanking sequence. Hum. Mol. Genet. in press. Bidichandani, S.I., Garcia, C.A., Patel, P.I., Dimachkie, M.M. (1999) Very late-onset Friedreich ataxia (VLOFA) despite large GAA triplet repeat expansions. Arch. Neurol. in press.

9. Genetics Research: Spinocerebellar Ataxia Spinocerebellar ataxia. Autosomal dominant with anticipation; Symptoms includeataxia, spasticity, ocular abnormalities, peripheral neuropathy; http://www.bcm.tmc.edu/neurol/research/genes/genes12.html

Spinocerebellar Ataxia Principal Investigator: Huda Zoghbi, M.D. Autosomal dominant with anticipation Symptoms include ataxia, spasticity, ocular abnormalities, peripheral neuropathy Our recent discoveries include: Mutation is CAG repeat expansion in ataxin-1 Mice lacking ataxin-1 have learning and memory deficits A mouse model for SCA1 has been developed Proteins interacting with mutant ataxin-1 have been isolated DNA-based diagnosis available Selected References: Koshy, B., Matilla, T., Burright, E.N., Merry, D.E., Fischbeck, K.H., Orr, H.T., and Zoghbi, H.Y. Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase. Hum. Mol. Gen., 5:1311-1318, 1996. Zoghbi, H.Y. The expanding world of ataxins. Nat. Genet., 14:237-238, 1996. Burright, E.N., Clark, H.B., Servadio, A., Matilla, T., Feddersen, R.M., Yunis, W.S., Duvick, L.A., Zoghbi, H.Y., and Orr, H.T. SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell, 82:937-948, 1995. Servadio, A., McCall, A., Zoghbi, H.Y., and Eicher, E.M. Mapping of the

10. Hereditary Ataxia Overview Explore a general discussion of ataxias. Find diagnosis criteria, and survey the different types of this neurological disorder. understanding of the molecular genetics were Marie's ataxia, inherited olivopontocerebellar atrophy, cerebelloolivary http://www.geneclinics.org/profiles/ataxias/details.html

Hereditary Ataxia Overview Author: Thomas D Bird, MD About the Author Initial Posting: 28 October 1998 Last Revision 26 March 2003 Summary Disease characteristics. The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. The hereditary ataxias are categorized by mode of inheritance and causative gene or chromosomal locus. Diagnosis/testing. Genetic forms of ataxia must be distinguished from the many acquired (non-genetic) causes of ataxia. The genetic forms of ataxia are diagnosed by family history, physical examination, and neuro-imaging. Molecular genetic tests are available in clinical laboratories for the diagnosis of SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, SCA17, episodic ataxia type 1, episodic ataxia type 2, DRPLA, Friedreich ataxia (FRDA), and autosomal recessive spastic ataxia of Charlevoix-Saguenay. Genetic counseling.

11. Emory Genetics Lab, Friedreich Ataxia have 734 copies of the GAA repeat, while individuals with Friedreich ataxia usuallyhave Return to Emory genetics Lab homepage Last Updated December 09, 2002. http://www.emory.edu/WHSC/GENETICSLAB/dna/fried.htm

FRIEDREICH ATAXIA INDICATIONS Click here for Gene Reviews Clinical Summary Friedreich ataxia, an autosomal recessive disorder, is characterized by spinocerebellar degeneration involving the spinocerebellar tracts, dorsal columns, pyramidal tracts, cerebellum and medulla. Disease symptoms usually begin before adolescence and are characterized by hyporeflexia or areflexia, corticospinal tract signs (Babinski response) and abnormalities in joint position and vibratory sensation. Cardiomyopathy and diabetes mellitus are other important manifestations of the disease. Recent investigations suggest that some patients with Friedreich ataxia retain their deep tendon reflexes and that this disorder is an allelic variant of classical Friedreich ataxia. Age at death is variable and ranges between the first and eighth decade of life (mean=37 years). Friedreich ataxia is caused by an abnormal expansion of a GAA repeat in the FRATAXIN gene, located on chromosome 9. Normal individuals have 7-34 copies of the GAA repeat, while individuals with Friedreich ataxia usually have between 200-900 copies. 95% of patients have an expansion in both alleles, while the remaining cases are compound heterozygotes, with a repeat expansion on one allele and a point mutation on the other. Genetic analysis is performed by PCR and Southern blot when necessary. SPECIMEN SPECIMEN REQUIREMENTS SHIPPING REQUIREMENTS Blood 5-10 ml whole blood in an EDTA ( purple top ) or ACD ( yellow top ) tube.

12. Re: Has The Gene Responsible For Frederick's Ataxia Been Located? Posted By Carolyn Pettibone, grad student, genetics, Harvard Medical School Date Thu Jul 3 102556 1997 Area of science genetics First, a little bit of background information gene responsible for Frederick's ataxia been located? Area genetics. Posted By Carolyn Pettibone, grad student, http://www.madsci.org/posts/archives/aug97/867961666.Ge.r.html

MadSci Network : Genetics Re: Has the gene responsible for Frederick's Ataxia been located? Area: Genetics Posted By: Carolyn Pettibone, grad student, Genetics, Harvard Medical School Date: Thu Jul 3 10:25:56 1997 Area of science: Genetics ID: 866773189.Ge Message: First, a little bit of background information: Ataxia is the term for progressive disorders involving muscle coordination and muscle action. Friedreich ataxia is one particular ataxia, and it is inherited in an autosomal recessive manner (both parents of an affected child are "silent" carriers of the trait). Friedreich ataxia has an incidence of 1/100,000 births, and the age of onset is usually before 10 years of age. Loss of muscle coordination occurs gradually over about 20 years, and ends with complete loss of ambulation. There are also cardiac and endocrine symptoms associated with this particular ataxia. No cure is available, and so the only thing doctors can do is treat the symptoms. Further information on other ataxias can be found here: Ataxia Classifications Now, to the original questions: Has the gene responsible been found? and Can people be screened for the gene?

13. Emory Genetics Lab, Spinocerebellar Ataxia (SCA-1, 2, 3 ,6, 7, & 8) group of neurodegenerative disorders characterized by progressive ataxia, dysarthria,swallowing EGL logoReturn to Emory genetics Lab homepage Last Updated http://www.emory.edu/WHSC/GENETICSLAB/dna/spino.htm

INDICATIONS Click here for Gene Reviews Clinical Summary: SCA1, SCA 6, Spinocerebellar ataxias (SCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive ataxia, dysarthria, swallowing difficulties and other differing and less consistent features. SCAs are autosomal dominant disorders. Their overlapping clinical presentation, variable onset and severity has complicated diagnosis and classification. We now offer a comprehensive panel for testing of symptomatic individuals or those with a family history. Though the different types of SCAs are due to defects in different genes, they have a common mechanism involving expansion of a CAG repeat in the gene. Genetic testing is performed by both PCR and southern blot analysis. SPECIMEN SPECIMEN REQUIREMENTS SHIPPING REQUIREMENTS Blood 5-10 ml whole blood in an EDTA ( purple top ) or ACD ( yellow top ) tube. (one 5 ml tube is adequate for infants) Ship sample at room temperature within 24 hours. If you cannot send the specimen the same day as it was collected, hold at room temperature and send within 48 hours. Prenatal Diagnosis from CVS or Amniocentisis Call first SAMPLES ACCEPTED: Monday - Friday, 8:30 am -5:00 pm.

14. Capstone Clinic Digital Library Clinical Resources by Topic Neurology ataxia Clinical Resources Pediatrics Geriatrics Pathology genetics Clinical Guidelines Clinical Trials News Miscellaneous Resources See also Neurological Clinical Procedure Resources General http://hsmedcenterbirmingham-dl.slis.ua.edu/clinical/neurology/cns/ataxia.htm

Clinical Resources by Topic: Neurology Ataxia Clinical Resources Pediatrics Geriatrics Pathology Genetics ... Miscellaneous Resources See also: Neurological Clinical Procedure Resources General Neurology Clinical Resources Ataxia Patient/Family Resources Harrison's Principles of Internal Medicine 15th Ed.-2001: Table of contents Health Sciences Library subscription INFO Chapter 22: Weakness, Myalgias, Disorders of Movement, and Imbalance Table of contents Introduction: Access document Imbalance and Disorders of Gait: Access document Introduction: Access document Pathogenesis: Access document Approach to the Patient: Access document Chapter 364: Ataxic Disorders Table of contents Approach to the Patient: Access document Symmetric Ataxia: Access document Focal Ataxia: Access document The Inherited Ataxias: Access document Introduction: Access document Autosomal Dominant Ataxias: Access document Introduction: Access document Access document Genetics: Access document Access document Genetics: Access document Machado-Joseph Disease/SCA3: Access document Genetics: Access document Access document Autosomal Recessive Ataxias: Access document Friedreich's Ataxia: Access document Genetics: Access document Ataxia Telangiectasia: Access document Genetics: Access document Mitochondrial Ataxias: Access document Treatment: Access document Chapter 363: Parkinson's Disease and Other Extrapyramidal Disorders Table of contents Machado-Joseph Disease (Spinocerebellar Ataxia Type 3): Access document Drug-Induced Movement Disorders: Access document Treatment: Access document Neuroleptic Malignant Syndrome:

15. Friedreich's Ataxia Fact Sheet Features this disease that causes progressive damage to the nervous system resulting in symptoms from muscle weakness, speech problems, to heart disease. hope that recent advances in understanding the genetics of Friedreich's ataxia may lead to breakthroughs in treatment. http://www.ninds.nih.gov/health_and_medical/pubs/friedreich_ataxia.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about a disorder Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health Friedreich's Ataxia Fact Sheet Get Web page suited for printing Email this to a friend or colleague Request free mailed brochure Table of Contents What is Friedreich's ataxia? What are the signs and symptoms? How is Friedreich's ataxia diagnosed? How is Friedreich's ataxia inherited? ... Where can I go for more information? What is Friedreich's ataxia? Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from muscle weakness and speech problems to heart disease. It is named after the physician Nicholas Friedreich, who first described the condition in the 1860's. "Ataxia," which refers to coordination problems such as clumsy or awkward movements and unsteadiness, occurs in many different diseases and conditions. In Friedreich's ataxia, ataxia results from the degeneration of nerve tissue in the spinal cord and of nerves that control muscle movement in the arms and legs. The spinal cord becomes thinner and nerve cells lose some of their myelin sheath - the insular covering on all nerve cells that helps conduct nerve impulses.

16. Genetic Conditions / Rare Conditions Information Site Lay advocacy groups, support groups, information on genetic conditions and birth defects for professional Category Health Conditions and Diseases Genetic Disorders......Genetic and Rare Conditions Site Medical genetics, University of ataxia (Friedreichataxia, spinocerebellar ataxias, ataxia telangiectasia, essential tremor http://www.kumc.edu/gec/support/

Genetic and Rare Conditions Site Medical Genetics, University of Kansas Medical Center Lay advocacy and support groups, information on genetic conditions /birth defects for professionals, educators, and individuals, National and International organizations · Categories Genetic Counselors and Geneticists Children and teen sites Advocacy ... Z Revised March 21, 2003 Aarskog syndrome Achondroplasia Achromatopsia Acoustic neuroma (and benign cranial nerve tumors) Adrenal hyperplasia Adrenoleukodystrophy Agenesis of corpus callosum Aicardi syndrome ... Arthrogryposis (amyoplasia) Ataxia (Friedreich ataxia, spinocerebellar ataxias, ataxia telangiectasia, essential tremor, spastic paraplegia, other) Autism / Asperger syndrome Bardet-Biedl syndrome Basal cell carcinoma (Gorlin syndrome) Batten disease (neuronal ceroid lipofuscinosis) Beckwith-Wiedemann syndrome Blepharophimosis Blind (vision anomalies) Brain Conditions / Disorders Branchio-Oto-Renal (BOR) syndrome Canavan Cancer ataxia telangiectasia ... Celiac sprue dermatitis herpiformis, gluten intolerance Charcot-Marie-Tooth peroneal muscular atrophy, hereditary motor sensory neuropathy

17. Pathology Molecular Genetics Spinocerebellar Ataxia Type 2 INDICATIONS FOR TESTING The clinical features of spinocerebellar ataxia type2 (SCA2) include progressive gait ataxia with leg cramps, slow saccadic eye http://www.allkids.org/Specialties/Pathology/Pages/Molecular_Genetics_Spinocereb

INDICATIONS FOR TESTING: The clinical features of spinocerebellar ataxia type 2 (SCA2) include progressive gait ataxia with leg cramps, slow saccadic eye movements and, in some patients, dystonia, chorea and dementia. Onset is usually in the fourth decade with longevity of typically 10 to 15 years, although earlier onset in juvenile patients is occasionally noted that has a more rapid course. This disorder is autosomal dominant and may be characterized by markedly increased severity in successive generations, a phenomenon known as genetic anticipation. SCA2 is caused by expansion of an unstable trinucleotide (CAG) repeat in the first exon of the SCA2 gene in the chromosomal region 12q24. TESTING OFFERED: The majority (~100%) of affected individuals have the CAG repeat expansion in the SCA2 gene that is readily detected. This repeat is polymorphic, with 14-31 repeats found in unaffected individuals, and from 36 to 64 repeats in affected individuals. Patients with alleles in the 32-35 are considered intermediate with an indeterminate course. TURN-AROUND TIME: Most testing is completed within a time of 21 days following specimen receipt.

18. Pathology Molecular Genetics Spinocerebellar Ataxia Type 1 INDICATIONS FOR TESTING The clinical features of spinocerebellar ataxia type1 (SCA1) include ataxia, dysarthria, and eventual bulbar dysfunction. http://www.allkids.org/Specialties/Pathology/Pages/Molecular_Genetics_Spinocereb

INDICATIONS FOR TESTING: The clinical features of spinocerebellar ataxia type 1 (SCA1) include ataxia, dysarthria, and eventual bulbar dysfunction. Onset is usually in the third or fourth decade with longevity of typically 10 to 30 years, although earlier onset in juvenile patients is occasionally noted that have a more rapid course. This disorder is autosomal dominant and may be characterized by markedly increased severity in sucessive generations, a phenomenon known as genetic anticipation. SCA1 is caused by expansion of an unstable trinucleotide (CAG) repeat in the first exon of the SCA1 gene in the chromosomal region 6p22-p23. TESTING OFFERED: The majority (~100%) of affected individuals have the CAG repeat expansion in the SCA1 gene that is readily detected. This repeat is polymorphic with 6-44 repeats found in unaffected individuals, and from 39 to 81 repeats in affected individuals. Patients with alleles in the 39-44 range require additional evaluation for CAT interruptions of the CAG repeat region. TURN-AROUND TIME: Most testing is completed within a time of 21 days following specimen receipt. Prenatal testing is usually completed within 7 days from specimen receipt.

19. Institute Of Human Genetics - University Of Minnesota KA Benzow, TD Bird, JW Day, and LPW Ranum (1999) An untranslated CTG expansion causesa novel form of spinocerebellar ataxia (SCA8). Nature genetics 21379384 http://www.ihg.med.umn.edu/people/ranum.html

Faculty Laura Ranum, PhD Laura Ranum, Ph.D. Faculty Ph.D. University of Minnesota, 1989. Institute of Human Genetics Dept. of Genetics, Cell Biology and Development 6-160 Jackson Hall 321 Church St. SE Minneapolis, MN 55455 Office: 7-220 Phillips Wangensteen Bldg, Phone: (612) 624-0901 Lab: 7-200 Phillips Wangensteen Bldg, Phone: (612) 626-3521 Fax: (612) 626-2600 email: ranum001@umn.edu Areas of Research Strength: Neuroscience Human genetics Research Techniques Used: Human genetics, genetic mapping, positional cloning, transgenic models Research Interests: Many neurodegenerative diseases begin later in life after the nervous system is fully developed. The biochemical bases for the initiation of the degenerative processes are not understood. A major step towards a better understanding of neurodegenerative diseases was made with the discovery that microsatellite repeat expansions are responsible for a number of these diseases. Our group is interested in understanding how repeat expansions cause myotonic dystrophy and ataxia. The inheritance pattern of SCA8, though generally dominant, is complicated, showing reduced penetrance and a strong maternal penetrance bias. Surprisingly, molecular analyses of this expansion revealed that, unlike the other SCA CAG mutations characterized to date, the SCA8 expansion is not translated as a polyglutamine tract. Rather, the expanded repeat is an untranslated CTG expansion near the 3' end of a naturally occurring antisense transcript. Myotonic dystrophy is the only other disease known to be caused by an untranslated CTG expansion.

20. Institute Of Human Genetics - University Of Minnesota Molecular neurogenetics and spinocerebellar ataxia. Dr. Orr's research programis focused on the molecular genetics of cerebellar development and http://www.ihg.med.umn.edu/people/orr.html

Faculty Harry Orr, PhD Harry Orr, Ph.D. Director, Institute of Human Genetics Tulloch Professor of Genetics, Department of Laboratory Medicine and Pathology 516 Delaware Street, S.E. Mayo Mail Code 206 7-215 PWB Minneapolis, MN 55455 Phone: (612) 625-3647 Fax: (612) 626-2600 email: harry@lenti.med.umn.edu Research Interests Molecular neurogenetics and spinocerebellar ataxia. Dr. Orr's research program is focused on the molecular genetics of cerebellar development and neurodegenerative diseases. He and his colleagues recently cloned the gene for an autosomal dominant form of spinocerebellar ataxia (SCA 1). They showed that the disease is due to expansion of an unstable trinucleotide repeat (CAG) within the SCA 1 gene, which they have mapped to the short arm of human chromosome. They are examining the role of the SCA 1 gene in normal CNS function and how this mutation disrupts this function. The investigators will be working with protein biochemists to characterize the normal and abnormal SCA 1 protein. Expression of TAG results in the death and degeneration of Purkinje cells. These studies with neuropathologist Brent Clark are continuing to determine the molecular mechanism of SV40 TAG-induced cell death and to characterize the role of Purkinje cells in the early stages of cerebellar development. Insights from these basic biological investigations could be important for developing genetic and other therapies for patients with neurodegenerative diseases.

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