61. FXTAS DNA Test (Fragile X-Associated Tremor/Ataxia Syndrome) Now Available At Ki PR Kimball genetics, internationally renowned experts in DNA testing for fragile XAssociated Tremor/ataxia Syndrome) Now Available At Kimball genetics http://www.prweb.com/releases/2004/3/prweb112473.htm

September 18, 2005 Home About Submit Press Release PR Firms ... All Press Releases for March 22, 2004 FXTAS DNA Test (Fragile X-Associated Tremor/Ataxia Syndrome) Now Available At Kimball Genetics Kimball Genetics, internationally renowned experts in DNA testing for fragile X syndrome, announced today the expansion of their fragile X testing service to include DNA testing for FXTAS (fragile X-associated tremor/ataxia syndrome). Denver, CO,(PRWEB) March 22, 2004—Kimball Genetics, internationally renowned experts in DNA testing for fragile X syndrome, announced today the expansion of their fragile X testing service to include DNA testing for FXTAS (fragile X-associated tremor/ataxia syndrome). FXTAS is a newly described neurological disorder that can affect older men who carry a fragile X premutation. FXTAS is characterized by progressive tremor, gait ataxia, and cognitive decline. The carrier frequency of men with a fragile X premutation is estimated to be 1 in 760 in the general population. One study suggests that up to 30% of male carriers with a fragile X premutation may develop FXTAS. FXTAS is distinct from fragile X syndrome, the most common cause of inherited mental retardation. However, both conditions arise as a consequence of a CGG trinucleotide repeat expansion in the FMR1 gene. The number of CGG repeats varies from 6 to approximately 40 in normal alleles. Premutations have between approximately 55 and 200 CGG repeats. Full mutations have more than 200 repeats and are usually associated with abnormal FMR1 methylation, resulting in fragile X syndrome.

62. Karger Publishers Molecular genetics of spinocerebellar ataxia type 8 (SCA8) AK Mosemillera,c, JCDaltona,c, JW Dayb,c, LPW Ranuma,c Departments of agenetics, Cell Biology, http://content.karger.com/ProdukteDB/produkte.asp?Doi=72852

63. MedlinePlus: Ataxia Telangiectasia genetics; genetics Home Reference ataxiatelangiectasia (National Library ofMedicine); Genes and Disease ataxia Telangiectasia (National Center for http://www.nlm.nih.gov/medlineplus/ataxiatelangiectasia.html

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Other health topics: A B C D ... List of All Topics Ataxia Telangiectasia Contents of this page: From the NIH Overviews Genetics Research ... Information from the Medical Encyclopedia Search MEDLINE/PubMed for recent research articles on Ataxia Telangiectasia You may also be interested in these MedlinePlus related pages: Movement Disorders Brain and Nervous System Genetics/Birth Defects From the National Institutes of Health Ataxia Telangiectasia (National Institute of Neurological Disorders and Stroke) - Short Summary Questions and Answers: Ataxia Telangiectasia (National Cancer Institute) Overviews Ataxia-Telangiectasia (Jeffrey Modell Foundation) Handbook for Families and Caregivers (Ataxia-Telangiectasia Children's Project) What Is Ataxia-Telangiectasia? (Ataxia-Telangiectasia Children's Project) Clinical Trials ClinicalTrials.gov: Ataxia Telangiectasia (National Institutes of Health) Genetics Genetics Home Reference: Ataxia-telangiectasia (National Library of Medicine) Genes and Disease: Ataxia Telangiectasia (National Center for Biotechnology Information) How is Ataxia-Telangiectasia Inherited?

64. Dr. John T. Macdonald Foundation Center For Medical Genetics Abstract, We have identified a unique ataxia on Grand Cayman Islands with ataxia and ataxia/dystonia in the jittery mouse. Nature genetics In press http://medgen.med.miami.edu/research/faculty_profiles/benke.asp

HOME PAGE Research Faculty and Staff Ongoing Projects ... MAP September 18, 2005 Paul J. Benke, M.D., Ph.D., F.A.A.P. Associate Professor Mailing address P.O. Box 016820 Miami, FL 33101-6820 Visits/Delivery address Room 5048 Mailman Center for Child Development 1601 N.W. 12th Avenue Miami, FL 33136 Tel. 305-243-6091 Email pbenke@peds.med.miami.edu Departmental Affiliations Department of Pediatrics Board Certifications American Board of Medical Genetics Clinical Genetics Biochemical Genetics American Board of Pediatrics Practice Locations Mailman Center for Child Development Jackson Memorial Hospital Education B.A. Rutgers University, New Brunswick, New Jersey M.D. University of Pennsylvania, Philadelphia, Pennsylvania Ph.D. University of Wisconsin, Madison, Wisconsin Residency / Fellowship University of Wisconsin, Madison, Wisconsin Clinical Interests Metabolic disorders Clinical dysmorphology Developmental delay Research Interests Systemic autoimmune diseases Cerebellar ataxia Ongoing Projects Title The basis of systemic lupus erythematosus (SLE) Abstract This research is based on the original premise that the immune system attacks self because self has changed in SLE. This project will show how lupus patients generate antigens, and thereby the potential to generate antibodies. Molecular, immunologic and biochemical techniques will be used to show the specificity of the process. If this research is successful, it is likely that new approaches to therapy will be possible.

65. The Clinical And Genetic Spectrum Of Spinocerebellar Ataxia 14 -- Chen Et Al. 64 Articles by Bird, TD. Related Collections. Gait disorders/ataxia All genetics The clinical and genetic spectrum of spinocerebellar ataxia 14 http://www.neurology.org/cgi/content/abstract/64/7/1258

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Figures Only Full Text Full Text (PDF) ... Citation Map Services Email this article to a friend Related articles in Neurology Similar articles in this journal Similar articles in PubMed ... Cited by other online articles PubMed PubMed Citation Articles by Chen, D. -H. Articles by Bird, T. D. Related Collections Gait disorders/ataxia All Genetics NEUROLOGY 2005;64:1258-1260 American Academy of Neurology Brief Communications The clinical and genetic spectrum of spinocerebellar ataxia 14 D. -H. Chen, MD, PhD P. J. Cimino, BS L. P.W. Ranum, PhD H. Y. Zoghbi, MD I. Yabe, MD, PhD L. Schut, MD R. L. Margolis, MD H. P. Lipe, RN A. Feleke, BS M. Matsushita, BS J. Wolff, BS C. Morgan, BS D. Lau M. Fernandez, MD H. Sasaki, MD W. H. Raskind, MD, PhD and T. D. Bird, MD From the Departments of Neurology and Medicine (Drs. Chen, Raskind, and Bird, P. Cimino, A. Feleke, M. Matsushita, J. Wolff, C. Morgan, and D. Lau) University of Washington, Seattle; Institute of Human Genetics (Dr. Ranum), University of Minnesota, Minneapolis; Department of Molecular and Human Genetics (Dr. Zoghbi), Baylor University, Houston, TX; Department of Neurology (Dr. Sasaki and Yabe), Hokkaido University, Sapporo, Japan; CentraCare Clinic (Dr. Schut), Saint Cloud, MN; Departments of Psychiatry and Neurology (Dr. Margolis), Johns Hopkins University, Baltimore, MD; Geriatric Research Education and Clinical Center (Dr. Bird, H. Lipe, J. Wolff), VAPSHCS, Seattle, WA; VAMC (Dr. Fernandez) Columbus, OH; Mental Illness Research Education and Clinical Center (Dr. Raskind), VAPSHCS, Seattle, WA.

66. Genetics Of Familial Episodic Vertigo And Ataxia -- BALOH And JEN 956 (1): 338 - genetics of Familial Episodic Vertigo and ataxia. ROBERT W. BALOHa,b and JOANNA C.JENa. aDepartment of Neurology and bDivision of Surgery (Head and Neck), http://www.annalsnyas.org/cgi/content/abstract/956/1/338

HOME HELP FEEDBACK SUBSCRIPTIONS ... Order this book! This Article Full Text Full Text (PDF) Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by BALOH, R. W. Articles by JEN, J. C. Related Collections Visual System GeneticsGeneral Annals of the New York Academy of Sciences New York Academy of Sciences Genetics of Familial Episodic Vertigo and Ataxia ROBERT W. BALOH a,b and JOANNA C. JEN a a Department of Neurology and b Division of Surgery (Head and Neck), UCLA School of Medicine, Los Angeles, California 90095-1769, USA Address for correspondence: Robert W. Baloh, M.D., UCLA Department of Neurology, Box 951769, Los Angeles, CA 90095-1769. Voice: 310-825-5910; fax: 310-206-1513. Ann. N.Y. Acad. Sci. 956: 338-345 (2002). The familial episodic ataxias are prototypical inherited channelopathies that result in episodes of vertigo and ataxia triggered by stress and exercise. Episodic ataxia type 1 (EA-1) is caused by missense

67. EMedicine - Ataxia With Identified Genetic And Biochemical Defects : Article By ataxia with Identified Genetic and Biochemical Defects Hereditary metabolicdisorders affect the nervous system on multiple levels, suggesting an inborn http://www.emedicine.com/neuro/topic556.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Neurology Movement And Neurodegenerative Diseases Ataxia with Identified Genetic and Biochemical Defects Last Updated: September 15, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: AUTHOR INFORMATION Section 1 of 11 Author Information Background Molecular Genetics And Putative Mechanisms Of Cerebellar Disease Nonprogressive Cerebellar Ataxias ... Bibliography Author: Asuri Prasad, MBBS, MD, FRCPE, FRCPC , Associate Professor of Pediatrics and Neurology, Health Sciences Centre of Manitoba; Consulting Staff, Department of Pediatrics, Section of Clinical Neurosciences, Children's Hospital of Western Ontario Coauthor(s): Chitra Prasad, MD, FRCPC, FCCMG, FACMG , Director of Metabolic Services, Children's Hospital, London Health Sciences Centre London; Associate Professor, Departments of Genetics, Metabolism and Pediatrics, University of Western Ontario; Cheryl R Greenberg, MD

68. National Ataxia Foundation What causes hereditary ataxia? The hereditary ataxias are genetic, which meansthey are caused by a defect in a certain gene that is present from the start http://www.ataxia.org/home.htm

NAF Homepage: What is the National Ataxia Foundation (NAF)? How can you help in NAF’s efforts? What is Ataxia? How do I get more information? The National Ataxia Foundation's web site is for information and educational purposes only. While great care is taken to ensure the accuracy of information, no guarantee of accuracy can be given. Links contained on this web site are provided for convenience only and the information contained in these links are neither directly nor indirectly endorsed by the National Ataxia Foundation. Readers should seek their own medical advice by a qualified physician in the treatment and care of their condition. to top What is the National Ataxia Foundation (NAF)? to top Whom does NAF serve? An estimated 150,000 Americans are affected by hereditary or sporadic ataxia. Ataxia can strike anyone at any time regardless of age, gender, or race. Ataxia is a group of progressive neurological diseases which affects coordination and speech. NAF membership includes the following: Persons with hereditary or sporadic ataxia, their families, and friends.

69. Hereditary Ataxia Overview Genetic forms of ataxia must be distinguished from the many acquired (nongenetic)causes of The genetic forms of ataxia are diagnosed by family history, 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 14 September 2005 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 (nongenetic) causes of ataxia. The genetic forms of ataxia are diagnosed by family history , physical examination, and neuroimaging. Molecular genetic tests are available in clinical laboratories for the diagnosis of SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, SCA14, SCA17, ataxia with vitamin E deficiency (AVED), ataxia with oculomotor apraxia type 1 (AOA1), DRPLA, Friedreich ataxia (FRDA), and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

70. Genetic Conditions / Rare Conditions Information Site Information on genetic conditions and birth defects for professionals, educators, spinocerebellar ataxias, ataxia telangiectasia, essential tremor, http://www.kumc.edu/gec/support/groups.html

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 September 2, 2005 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

71. The Gift - Freidreich's Ataxia: 1500 Affected In The UK. Genetic Futures - Y Tou The genetic disorder, Friedreich s ataxia, currently affects over 1500 people inthe UK. It is an inherited disease of the central nervous system in which http://www.geneticfutures.com/thegift/story3.asp

Related Stories Exclusive! Controversial scientist answers critics Father challenges wife over child selection Scientist uses family history to justify actions Friedreich's ataxia: 1500 affected in the UK ... Gender and height GENETIC SELECTION Friedreich's ataxia: 1500 Affected In the UK Each child starts out with the same odds Video files are available. Download the latest Quicktime plug-in to view them. The genetic disorder, Friedreich's ataxia, currently affects over 1500 people in the UK. It is an inherited disease of the central nervous system in which there is a progressive deterioration of co-ordination and muscle control, characterised by unsteadiness and loss of balance as well as slurring of speech and curvature of the spine. Symptoms usually first appear between the ages of 4-16. Usually within 15-20 years after the first appearance of the symptoms, the person is confined to a wheelchair and life expectancy is much reduced. Friedreich's ataxia is a recessive disorder, which means that an individual must inherit two affected genes, one from each parent, for the disease to develop. A person who has only one abnormal copy of the gene is a carrier. They will not develop the disease but could pass the affected gene on to their children.

72. Genetic Chaos be among the most common genetic causes of inherited ataxia in Finland.We identified 27 patients with mitochondrial recessive ataxia syndrome (MIRAS) http://vetinarilord.blogspot.com/

@import url("http://www.blogger.com/css/blog_controls.css"); @import url("http://www.blogger.com/dyn-css/authorization.css?blogID=6629217"); @import url(http://www.blogger.com/css/navbar/main.css); @import url(http://www.blogger.com/css/navbar/1.css); Notify Blogger about objectionable content. What does this mean? BlogThis! Genetic Chaos Friday, September 16, 2005 Joining the Pillars of Hercules: mtDNA Sequences Show Multidirectional Gene Flow in the Western Mediterranean Comparison of mtDNA data with autosomal markers and Y-chromosome lineages, analysed in the same populations, shows a congruent pattern, although female-mediated gene flow seems to have been more intense than male-mediated gene flow. PDF file posted by Havelock at 1:55 PM Trading Genes along the Silk Road: mtDNA Sequences and the Origin of Central Asian Populations PDF file Admixture, migrations, and dispersals in Central Asia: evidence from maternal DNA lineages PDF file posted by Havelock at 1:39 PM About Using genetic research to study human migration patterns. Previous Joining the Pillars of Hercules: mtDNA Sequences S...

73. Project: Ataxia Telangiectasia: Immunological, Genetic And Neurological Aspects Project ataxia telangiectasia immunological, genetic and neurological aspects.Show printerfriendly view Print View switch to nl http://www.onderzoekinformatie.nl/en/oi/nod/onderzoek/OND1267425/toon

Login English KNAW Research Information NOD - Dutch Research Database ... Research entire www.onderzoekinformatie.nl site fuzzy match Project: Ataxia telangiectasia: immunological, genetic and neurological aspects Print View Titel Ataxia telangiectasia: immunologische, genetische en neurologische aspecten Period Dissertation Yes Related organisations Secretariat: Department of Neurology (KUN) Related persons Project leader: Prof.dr. B.G.M. van Engelen Project leader: Dr. C.M.R. Weemaes Supervisor: Prof.dr. F.J.M. Gabre«ls Classification public health and health care genetics immunology, serology neurology, otorhinolaryngology, opthalmology ... NOD page Last modified: 17-01-2002 00:00

74. ATM - Ataxia Telangiectasia Mutated (includes Complementation Groups A, C And D) ataxiaTelangiectasia (University of Washington) part of the NCI funded Geneclinics.org Details of AT, diagnosis, management, molecular biology, genetic http://www.cancerindex.org/geneweb/ATM.htm

Cancer Genetics Web www.cancer genetics.org ATM ; Ataxia telangiectasia mutated (includes complementation groups A, C and D) (11q22.3) ATM Menu Summary Information - ATM Gene Database Entries for ATM Other ATM Related Resources Overview of ATM and Cancer ... Feedback / suggest a new topic for ATM Search: Summary Information ATM; Ataxia telangiectasia mutated (includes complementation groups A, C and D) Location: Aliases: ATA, ATC Overview: Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterised by cerebellar ataxia, telangiectases, immunodeficiency, radiosensitivity and predisposition to lymphatic leukemias and other malignancies. There are a number of sub-types of AT and at least 4 of the complementation groups are associated with mutations in the ATM gene. Return to ATM Contents Gene Database Entries for ATM OMIM GeneCard (Weizmann Institute) Atlas of Genetics and Cytogenetics in Oncology and Haematology Human Gene Mutation Database (Cardiff, UK) Locus Link UniGene GenAtlas GDB ... Nomenclature (search for ATM) Return to ATM Contents Other Related Resources Search Medline for related articles (PubMed) Medline Search: cancer AND gene AND (ATM[TI] OR ATA[TI] OR ATC[TI]) (PubMed) Limit search to: [Last Year] Limit search to: [Last 2 Years] Limit search to: [Reviews] Return to ATM Contents Overview of ATM and Cancer Khanna KK Cancer risk and the ATM gene: a continuing debate.

75. Spinocerebellar Ataxia - Wikipedia, The Free Encyclopedia Spinocerebellar ataxia is one of a group of genetic disorders characterized byslowly progressive incoordination of gait and often associated with poor http://en.wikipedia.org/wiki/Spinocerebellar_ataxia

Spinocerebellar ataxia From Wikipedia, the free encyclopedia. Spinocerebellar ataxia Cerebellum (in blue) of the human brain Spinocerebellar ataxia SCA ) is a disease with multiple types, each of which could be considered a disease in its own right. As with other forms of ataxia , SCA results in unsteady and clumsy motion of the body due to a failure of the fine coordination of muscle movements, along with other symptoms It can be easily misdiagnosed as another neurological condition, such as multiple sclerosis (MS). There is no known cure for this degenerative condition, which lasts for the remainder of the sufferer's life. Treatments are generally limited to softening symptoms, not the disease itself. The condition is irreversible. A person with this disease will usually end up needing to use a wheelchair , and eventually they will need assistance to perform daily tasks. The symptoms of the condition vary with the specific type (there are several), and with the individual patient. Generally, a sufferer retains full mental capacity while they progressively lose physical control over their body until their death. One means of identifying the disease is with an MRI to view the brain. Once the disease has progressed sufficiently, the

76. Entrez PubMed Diseasecausing mutations have been identified in various entities of autosomaldominant ataxia and http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

77. BCM-Neurology-Parkinson's Disease Center And Movement Disorders-Ataxia Genetic abnormality. Clinical features. DRPLA, 6q27, CAG repeats, ataxia, chorea,dystonia, myoclonus, dementia. Freidrich s ataxia, 9p13 (intron 1), http://www.bcm.edu/neurology/struct/parkinson/ataxia.html

Print This Page Close Window Ataxia Joseph Jankovic, M.D. Clinical Features and Classification There are about 150,000 patients affected with some or other form of ataxia in USA. There are many causes of ataxia. Congenital ataxias occur in children and they are due to structural abnormalities in the brain that occur before or during birth. These include cerebral palsy (injury to the brain at birth due to lack of oxygen or blood supply), hydrocephalus (increased pressure caused by blockage or build up of cerebrospinal fluid) or brain tumors, and other injuries to the brain. Episodic ataxia is a disorder with intermittent spells of ataxia with complete recovery between episodes. This is classified into types 1 and 2. These are dominantly inherited cerebellar ataxias. They are caused by genetic mutations within a voltage gated potassium channel (KCNA1) gene and the cerebral P/Q type calcium channel gene (CACNL1A4) respectively. Patients have spells of gait difficulty, dysarthria and nystagmus with complete recovery between episodes. Genetic episodic ataxias are responsive to medical treatment. Drug ingestion, multiple sclerosis and other causes can also lead to episodic ataxia in some cases.

78. Genetic Polymorphism At Spinocerebellar Ataxia 1 And 2 Loci In Brazil The level of heterozygosis was 53% (SCA1) and 8% (SCA2). Key words Spinocerebellarataxia, Dynamic mutation, SCA1, SCA2, Genetic polymorphism http://www.funpecrp.com.br/gmr/year2003/vol4-2/gmr0068_abstract.htm

Genetic polymorphism at spinocerebellar ataxia 1 and 2 loci in Brazil Human Genetics Service, Department of Cell Biology and Genetics, State University of Rio de Janeiro, Rio de Janeiro, RJ, Brazil Corresponding author: M.A. Costa Lima E-mail: marlima@biologia.ufrj.br Genet. Mol. Res. 2 (4): 360-365 (2003) Received July 7, 2003 Accepted September 30, 2003 Published December 5, 2003 ABSTRACT. Key words: Spinocerebellar ataxia, Dynamic mutation, SCA1, SCA2, Genetic polymorphism Full Text in html Full Text in pdf

79. Genetic Polymorphism At Spinocerebellar Ataxia 1 And 2 Loci In Brazil Key words Spinocerebellar ataxia, Dynamic mutation, SCA1, SCA2, Genetic polymorphism.INTRODUCTION. Since the discovery of dynamic mutation in the last http://www.funpecrp.com.br/gmr/year2003/vol4-2/gmr0068_full_text.htm

Genetic polymorphism at spinocerebellar ataxia 1 and 2 loci in Brazil Human Genetics Service, Department of Cell Biology and Genetics, State University of Rio de Janeiro, Rio de Janeiro, RJ, Brazil Corresponding author: M.A. Costa Lima E-mail: marlima@biologia.ufrj.br Genet. Mol. Res. 2 (4): 360-365 (2003) Received July 7, 2003 Accepted September 30, 2003 Published December 5, 2003 ABSTRACT. Key words: Spinocerebellar ataxia, Dynamic mutation, SCA1, SCA2, Genetic polymorphism INTRODUCTION Genetic ataxias comprise a heterogeneous group of progressive late-onset neurodegenerative disorders. Most familial cases show a monogenic-autosomal-dominant pattern of inheritance, with variable expressivity and age-dependent penetrance (Pujana et al., 1999; Orr and Zoghbi, 2000). At least nine types of spinocerebellar ataxia (SCA) have been associated with dynamic mutation and most of them are promoted by the expansion of exonic CAG repeats. There is an inverse correlation between the age of onset and the extension of the repeat-containing sequence and, although the individual is born carrying the mutant allele, the neurological consequences only become apparent after a variable period of life, during which the neuronal functions are normal (Zoghbi, 2000; Cummings and Zoghbi, 2000). The SCA type 1 ( ) locus has been localized in the short arm of chromosome 6, at 6p22-23. This gene spans 450 kb of genomic DNA and is organized in nine exons, resulting in a 10.6-kb transcript expressed both in neuronal and non-neuronal tissues. The coding region falls within the last two exons, and the first four non-coding exons undergo alternative splicing (Ranum et al., 1991; Banfi et al., 1993, 1994; Servadio et al., 1995). The gene product, ataxin-1, contains about 800 amino acids, depending on the size of the CAG repeat, and shares no homology with other proteins, except for the presence of a polyglutamine tract, which is located in the amino half of the protein (Banfi et al., 1993; Servadio et al., 1995). The CAG repeat at

80. Autosomal Dominant Cerebellar Ataxia - Patient UK eMedicine ataxia with genetic biochemical defects; Support group Patient supportgroup. Acknowledgements EMIS is grateful to Dr Paul Hewish for authoring http://www.patient.co.uk/showdoc/40000823/

PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Autosomal dominant cerebellar ataxia Machado-Joseph disease Most forms of cerebellar ataxia are acquired disorders but hereditary forms can be autosomal dominant , recessive or a few are X-linked. By and large the dominant forms are less severe than recessive ones. The classification includes the following diseases: Autosomal dominant cerebellar ataxia type I, II and III Cerebellar ataxia, dominant pure Cerebello-olivary atrophy Olivo-ponto-cerebellar atrophy Pierre Marie cerebellar ataxia Spinocerebellar ataxia, types 1-8,10-19,21-22 Autosomal dominant spinocerebellar ataxias (ADCA) are clinically and genetically varied disorders characterised by a slow progression of ataxia of gait, stance and limbs, dysarthria with or without oculomotor dysfunction due to cerebellar degeneration. The degenerative process can be limited to the cerebellum (ADCA type III) or may also involve the retina (ADCA type II), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type I). In the genetic classification, ADCAs are called spinocerebellar ataxias (SCAs) and numbered in the order SCA1 to SCA22. They may show the phenomenon of anticipation with earlier onset and more severe disease in successive generations. Epidemiology Prevalence

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