21. Ataxia Telangiectasia This resource contains a summary and bibliographical references of the review.Last updated in February 2005. ataxia Telangiectasia / genetics; http://omni.ac.uk/browse/mesh/D001260.html

low graphics Ataxia Telangiectasia Ataxia Telangiectasia Ataxia Telangiectasia / genetics broader: Immunologic Deficiency Syndromes other: Agammaglobulinemia DiGeorge Syndrome HIV Infections Severe Combined Immunodeficiency Ataxia Telangiectasia NINDS : ataxia telangiectasia information page This Web resource on ataxia telangiectasia (an autosomal recessive inherited disorder) is produced by the National Institute of Neurological Disorders and Stroke (NINDS). A description of ataxia telangiectasia is provided, and available treatments, prognosis, and current research activities are all discussed. Links to related organisations and NINDS related material (including documents and press releases) are provided. This resource has a US focus. Patient Education Handout [Publication Type] Ataxia Telangiectasia Ataxia Telangiectasia / genetics GeneReviews : ataxia-telangiectasia Notes for physicians on ataxia-telangiectasia (A-T, Louis-Bar Syndrome). This document includes diagnosis, a clinical description, differential diagnosis, management, genetic counselling, and molecular genetics. Posted in October 1998, this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review. Last updated in February 2005. Ataxia Telangiectasia / genetics Last modified: 16 Sep 2005

22. Genetics & Cancer - Ataxia Telangiectasia (A-T) Cancer Center home Cancer Center index; genetics Cancer AtaxiaTelangiectasia (AT); Alternative Therapy Cancer Diagnosis genetics Cancer http://ymghealthinfo.org/content.asp?pageid=P07124

23. Genetics Testing For Neurogenetic Diseases: Home Page Spinocerebellar ataxia Making an Informed Choice about Genetic Testing (pdf fileformat), Facioscapulohumeral Muscular Dystrophy Making an Informed Choice http://depts.washington.edu/neurogen/

Home Search Contact Us Take me to: Home Seattle Area Neurogenetics Clinics Faculty and Staff Research Studies ... UW Neurology Contact Information: Email Us Tel: 206-616-2135 Fax: 206-616-2414 Send mail to: UW Medical Center Div. of Neurogenetics 1959 NE Pacific St. UW Box 357720 Seattle, WA 98195 Welcome to the new Neurogenetics Clinics website! There are more than 200 different types of inherited neurological disorders in which alterations in the molecules that make up the brain and peripheral nerves lead to an inherited condition. These include such disorders as Huntington disease, early-onset and familial forms of Alzheimer disease, inherited forms of ataxia, muscular dystrophies, and degenerative disorders of the brain and nerves. These conditions are generally uncommon as individual entities but, in aggregate, may affect almost 1% of the population. Yet they remain relatively poorly understood and under recognized outside the realm of the Neurogenetics specialty clinics. Patient Information Hungtinton Disease: Making an Informed Choice (pdf file format) Myotonic Dystrophy: Making an Informed Choice (pdf file format)

24. Cerebellar Ataxia Investigative Webpage If you or a loved one have been stricken with ataxia, Cerebellar ataxia, Also there are concurrently some remarkable developments in genetics science http://www.kyphoto.com/classics/ataxia.html

Cerebellar Ataxia Greetings from Australia and Welcome to my Cerebellar Ataxia Investigative Webpage Some three years ago I posted my Cerebellar Ataxia webpage on the Internet. My beautiful wife of a 46 year marriage had been stuck down with the most rampantly aggressive and progessive cerebellar atrophy which given the circumstances of her exposure and manifestation of symptoms I knew had been triggered by a certain consumer-product toxin. Not the slightest doubt about it. During the period to date I have kept my self-commitment to respond diligently and at whatever required length to enquiries from CA patients or those writing on behalf of such - but the task has taken a heavy toll. Seldom in three years have I been able to to get to bed before 3am as I corresponded variously with over 1400 respondents. In June of last year my wife lost her battle for life in a Hi-Care Nursing Home and I concluded that I could no longer keep up this heavy extra-curricular workload and must therefore withdraw my Web Page from the Internet. Given the diverse incarnations and degrees of CA it is impossible to render rock solid data which would be universally applicable. Therefore, those who see relevance and significance to their own neuro-condition, ought bounce my information off their own Practitioner/s.

25. Friedreich S Ataxia And I For more information on inheriting FA see ataxia UK s genetics and ataxia leaflet.The problem lies within the genetic code on chromosome 9 and the number http://www.ohbother.co.uk/ataxia.htm

26. Arch Neurol -- Abstract: Molecular Genetics Of Hereditary Spinocerebellar Ataxia Topic Collections. •, Genetic Counseling/ Testing/ Therapy. •, ataxia. •,Neurogenetics. •, Collection Email Alerts http://archneur.ama-assn.org/cgi/content/abstract/61/5/727

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 61 No. 5, May 2004 Featured Link E-mail Alerts Original Contribution Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Related articles in this issue Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Brusco A Taroni F ISI Web of Science (5) Contact me when this article is cited Topic Collections Genetic Counseling/ Testing/ Therapy Ataxia Neurogenetics Topic Collection Alerts Molecular Genetics of Hereditary Spinocerebellar Ataxia Mutation Analysis of Spinocerebellar Ataxia Genes and CAG/CTG Repeat Expansion Detection in 225 Italian Families Alfredo Brusco, PhD Cinzia Gellera, PhD Claudia Cagnoli, BSc Alessandro Saluto, BSc Alessia Castucci, BSc Chiara Michielotto, BSc

27. Arch Neurol -- Abstract: Late-onset Friedreich's Ataxia. Molecular Genetics, Cli Lateonset Friedreich s ataxia. Molecular genetics, clinical neurophysiology,and magnetic resonance imaging. T. Klockgether, S. Chamberlain, U. Wullner, http://archneur.ama-assn.org/cgi/content/abstract/50/8/803

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 50 No. 8, August 1993 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Klockgether T Dichgans J Articles that cite this article Contact me when this article is cited Late-onset Friedreich's ataxia. Molecular genetics, clinical neurophysiology, and magnetic resonance imaging T. Klockgether, S. Chamberlain, U. Wullner, M. Fetter, H. Dittmann, D. Petersen and J. Dichgans Department of Neurology, University of Tubingen, Germany. OBJECTIVETo clarify the nosological classification of late-onset Friedreich's ataxia (LOFA), ie, patients who have later onset of Friedreich's ataxia (FRDA), often after 25 years of age. DESIGNComparison of clinical examination data, nerve conduction studies

28. Genetics Of Movement Disorders And Ataxia -- Jarman And Wood 73 (Supplement 2): Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK;paul.jarman@uclh.org. Keywords genetics; movement disorders; ataxia http://jnnp.bmjjournals.com/cgi/content/extract/73/suppl_2/ii22

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders ... Download to citation manager PubMed PubMed Citation Articles by Jarman, P. R Articles by Wood, N. W Related Collections Neurology in Practice Other Neurology Genetics Journal of Neurology Neurosurgery and Psychiatry GENETICS OF MOVEMENT DISORDERS AND ATAXIA Paul R Jarman and Nicholas W Wood National Hospital for Neurology and Neurosurgery, London, UK Correspondence to: Dr Paul R Jarman, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK; paul.jarman@uclh.org Keywords: genetics; movement disorders; ataxia The first 150 words of the full text of this article appear below.

29. Genetics Of Movement Disorders And Ataxia -- Jarman And Wood 73 (Supplement 2): Keywords genetics; movement disorders; ataxia Friedreich’s ataxia a clinicaland genetic study of 90 families with an analysis of early diagnostic http://jnnp.bmjjournals.com/cgi/content/full/73/suppl_2/ii22

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders ... Download to citation manager PubMed PubMed Citation Articles by Jarman, P. R Articles by Wood, N. W Related Collections Neurology in Practice Other Neurology Genetics Journal of Neurology Neurosurgery and Psychiatry BMJ Publishing Group GENETICS OF MOVEMENT DISORDERS AND ATAXIA Paul R Jarman and Nicholas W Wood National Hospital for Neurology and Neurosurgery, London, UK Correspondence to: Dr Paul R Jarman, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK; Keywords: genetics; movement disorders; ataxia Genetic disorders of the central nervous system have a propensity to cause movement disorders or ataxia, as a part of the phenotype

30. Entrez PubMed Heredoataxias correspond to a larger number of etiologically different and forthe greatest part not http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7

31. BCM-Neurology-Genetics-Spinocerebellar Ataxia Spinocerebellar ataxia Autosomal dominant with anticipation; Symptoms includeataxia, spasticity, ocular abnormalities, peripheral neuropathy http://www.bcm.edu/neurology/research/genes/genes12.html

Print This Page Close Window 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 Print This Page Close Window Department of Neurology, 6501 Fannin St., NB302, Houston, TX 77030 Office: 713-798-5971 Patient Appointments: 713-798-5355 neurons_webmaster@bcm.tmc.edu Modified Date Jan. 26, 2005

32. Molecular Genetics Of Spinocerebellar Ataxia Type 8 SCA8 Molecular Genetics Of S Spinocerebellar ataxias SCAs belong to a group of autosomal dominant lateonsetneurodegenerative disorders characterized by slowly progressive ataxia that http://www.landesbioscience.com/journals/rnabiology/abstract.php?id=1682

33. Re: Has The Gene Responsible For Frederick's Ataxia Been Located? Further information on the genetics of specific human diseases can be found on the Publication that asserted that X25 is the Friedreich ataxia gene 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?

34. Health News & Article - Ataxia Telangiectasia Health Articles news about ataxia Telangiectasia and genetics genetics HomeReference ataxiatelangiectasia news from National Library of Medicine http://www.sl100.net/topic/topic/ataxiatelangiectasia/

Health News Home 100s of Save Life Articles Ataxia Telangiectasia Read about Ataxia Telangiectasia from PubMed Find Medical Dictionary Meaning of Ataxia Telangiectasia. Health Education Health education or patient education is important aspect of disease management program. Even some programs, especially some chronic disease management can go further and introduced self-management for some aspect of illness. Good example is management of arthritis. There are a variety of models for both formal and informal self-management. However, the core concepts involve engagement in self-care, improved self-monitoring, interactions with healthcare professionals and coping with disease. Self-management programs are mostly provided to people with chronic diseases like arthritis, diabetes, and some skin diseases. Patient education and self-management programs are aim to improve the efficiency and quality of the healthcare process and overall improve quality of life. It is not really about reduction in doctor visits or clinic attendances. Even sometime, an improved healthcare process can include more frequent use of services because of improved compliance. In this website, you can find resources for articles about common health topics and news. New findings in the field are included some articles. Topics are categories in the alphabetical order and you can use Health Article Search Box to search the topic you want.

35. Peninsula Molecular Genetics Laboratory, Exeter, UK FRIEDREICH ataxia (ANALYSIS OF THE FRDA GENE). Friedreich ataxia is the mostcommon inherited ataxia with an incidence of 1 in 50000. http://www.ex.ac.uk/diabetesgenes/geneticslab/clinicalgenetic/friedreich.htm

CLINICAL GENETICS FRIEDREICH ATAXIA (ANALYSIS OF THE FRDA GENE) Friedreich ataxia is the most common inherited ataxia with an incidence of 1 in 50,000. It has a recessive mode of inheritance with a carrier frequency estimated at 1 in 120. More than 95% of affected patients are homozygous for a (GAA)n expansion within intron 1 of the FRDA gene which encodes the frataxin protein. There are rare compound heterozygotes with an expansion on one allele and a point mutation in the other. Analysis of the (GAA)n repeat within the FRDA gene is available from the Molecular Genetics Laboratory in Cambridge (contact Dr J. Whittaker on 01223 550700 or joanne.whittaker@addenbrookes.nhs.uk which is a member of the SCOBEC (Salisbury, Cambridge, Oxford, Bristol, Exeter, Cardiff) network of genetics laboratories.

36. Peninsula Molecular Genetics Laboratory, Exeter, UK SPINOCEREBELLAR ataxia (ANALYSIS OF THE SCA1, 2, 3, 6 and 7 GENES) Cambridge,Oxford, Bristol, Exeter, Cardiff) network of genetics laboratories. http://www.ex.ac.uk/diabetesgenes/geneticslab/clinicalgenetic/sca.htm

CLINICAL GENETICS SPINOCEREBELLAR ATAXIA (ANALYSIS OF THE and GENES) The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders with an estimated prevalence of 1 in 100,000. A trinucleotide repeat expansion (CAG)n has been found within the coding region at 5 gene loci (SCA1, 2, 3, 6 and 7). Analysis of the (CAG)n repeat within the and genes is available from the Molecular Genetics Laboratory in Cambridge (contact Dr J. Whittaker on 01223 550700 or joanne.whittaker@addenbrookes.nhs.uk which is a member of the SCOBEC (Salisbury, Cambridge, Oxford, Bristol, Exeter, Cardiff) network of genetics laboratories.

37. LSUHSC School Of Medicine - Center For Molecular And Human Genetics - Center For At present there is no cure for Friedreich ataxia but there is a lot of promising of genetics and of the genes that cause different forms of ataxia. http://www.medschool.lsuhsc.edu/genetics_center/acadiana_center.asp

Administration Basic Sciences Clinical Sciences Centers ... Stanley S. Scott Cancer Center Center for Acadiana Genetics Testimony of Billy Tauzin I A Tribute to Dr. Merv Trail I Leadership and Membership I Coup de Main Testimony of Congressman Tauzin House Appropriations Subcommittee on Labor, Health and Human Services March 27, 2001 Click here for full transcript Congressman Billy Tauzin (R-Thibodaux) testifies in Washington, DC before the House Appropriations Subcommittee on Labor, Health and Human Services, Education and Related Agencies regarding the importance of continued federal funding for the Center for Acadian Genetics and Hereditary Health Care. On the left is Keith Andrus who is afflicted with Friedreich's ataxia, one of the genetic disorders that occurs at a disproportionately higher frequency in the south Louisiana Acadian community. Congressman Ralph Regula is the Chairman of the House Appropriations Subcommittee on Labor, Health and Human Services, Education and Related Agencies. He and subcommittee staff assistant, Ms. Francine Salvador, are pictured while receiving the testimony of Congressman Tauzin.

38. N.C.M.G. Ireland | Friedreich Ataxia Service Description. The National Centre for Medical genetics provides a comprehensive service forall patients and families in the Republic of Ireland affected by or at risk of http://www.genetics.ie/molecular/frda/

@import "../../css/layout.css"; home molecular genetics Friedreich Ataxia National Centre for Medical Genetics Friedreich Ataxia Background and Standard Service Information Friedreich Ataxia ( FRDA ) is the most common hereditary ataxia with an estimated prevalence of 1 in 50,000. The carrier frequency for FRDA in the general population is estimated to be 1 in 120. FRDA is characterised by progressive ataxia, areflexia of the legs, pyramidal weakness and impaired sense of vibration. Cardiomyopathy and diabetes are also seen with variable penetrance. FRDA is an autosomal recessive disorder and the majority of patients (96%) have a homozygous expansion mutation of a (GAA)n repeat within intron 1 of the frataxin gene. The normal range is 9-33 repeats and the size range associated with disease is 66 to 1,700 repeats, but the majority of pathogenic alleles contain 600-1,200 repeats. A number of point mutations have been reported in patients who are heterozygous for the expansion. To date, no FRDA patients without an expansion have been reported. Essential referral information In addition to supplying standard patient and referral information, the following should be clearly indicated:

39. Spinocerebellar Ataxia Type 8 In Scotland: Genetic And Clinical Features In Seve Keywords spinocerebellar ataxia type 8; ataxia; genetics. Abbreviations ACE,Addenbrooke’s cognitive examination; DSMIV, Diagnostic and Statistical http://www.jnnp.com/cgi/content/abstract/75/3/459

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders ... Download to citation manager PubMed PubMed Citation Articles by Zeman, A Articles by Warner, J Related Collections Other Neurology Genetics Journal of Neurology Neurosurgery and Psychiatry BMJ Publishing Group Ltd PAPER Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports A Zeman J Stone M Porteous E Burns L Barron and J Warner Department of Clinical Neurosciences, University of Edinburgh, Western General Hospital, Edinburgh, UK Department of Clinical Genetics, University of Edinburgh Correspondence to: Dr Adam Zeman Department of Clinical Neurosciences, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK;

40. Retinal Degeneration Characterizes A Spinocerebellar Ataxia Mapping To Chromosom 1Department of Human genetics, University of Utah, Salt Lake City, Utah 84112, ataxia clinical description of a distinct hereditary ataxia and genetic http://www.nature.com/ng/journal/v10/n1/abs/ng0595-89.html

@import "/ng/style.css"; nature.com homepage Login My account ... Browse by subject Search This journal All of nature.com Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Article Nature Genetics doi:10.1038/ng0595-89 Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p Launce G. Gouw , Craig D. Kaplan , John H. Haines , Kathleen B. Digre , S. Lane Rutledge , Antoni Matilla , Mark Leppert , Huda Y. Zoghbi Department of Human Genetics, University of Utah, Salt Lake City, Utah 84112, USA Department of Oregon Eye Associates, Eugene, Oregon 97401, USA Department of Neurology, University of Utah, Salt Lake City, Utah 84112, USA Department of Opththalmology, University of Utah, Salt Lake City, Utah 84112, USA Department of Pediatrics, University of Alabama, Birmingham, Alabama 35233, USA Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA Department of Molecular and Human Genetics, Baylor Collage of Medicine, Houston, Texas 77030, USA Correspondence should be addressed to L.J.P.

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