81. Disease - Spinocerebellar Ataxia (SCA) Hereditary ataxia is a group of rare genetic neuromuscular disorders characterized by Spinocerebellar ataxia is one of a group of genetic disorders http://disability.ucdavis.edu/resources/diseases/list/disease.asp?id=27

82. Genetic Testing Molecular genetic analysis of autosomal dominant cerebellar ataxia with Bidichandani, S. et al., Atypical Friedreich s ataxia caused by compound http://www.athenadiagnostics.com/site/product_search/test_reference_template.asp

83. EMJA: Friedreich Ataxia: From Genes To Therapies? Friedreich ataxia effects of genetic understanding on clinical evaluation andtherapy. Arch Neurol 2002; 59 743747. PubMed . (Received 23 Nov 2004, http://www.mja.com.au/public/issues/182_09_020505/del10843_fm.html

Home Issues Email alerts Classifieds ... Search PubMed for related articles Editorials Friedreich ataxia: from genes to therapies? Martin B Delatycki Panos A Ioannou and Andrew J Churchyard MJA Most cases are caused by a single mutation, paving the way for therapeutic advances for this fatal disease F With an average age of onset of 10 years, those affected by this condition become wheelchair-bound on average 10 years after onset. The symptom that heralds onset in the vast majority of cases is increasing incoordination. Onset after 30 years of age is rare. Death ensues, on average, 36 years after disease onset and is largely due to hypertrophic cardiomyopathy. Other sources of morbidity in FRDA include an increased incidence of diabetes mellitus, dysarthria, swallowing difficulties, scoliosis, optic atrophy, hearing loss and foot deformity. FRDA is caused by mutations in the FRDA gene which encodes the protein frataxin. The pathogenic mutation is an expanded GAA triplet repeat in intron one of the FRDA gene in 98% of mutant alleles. The other 2% are point mutations. The fact that one mutation accounts for the vast majority of FRDA means that there is a relatively simple diagnostic test available for this disease.

84. Core Curriculum - POSNA Discuss genetic transmission of Friedreich ataxia Friedreich s ataxia aclinical and genetic study of 90 families with an analysis of early diagnostic http://www.posna.org/index?service=page/coreCurriculum&article=friedreichAtaxia.

85. HHMI's BioInteractive - Polyglutamine Disease Polyglutamine Diseases A Devastating Genetic Stutter By Laura Bonetta Spinocerebellar ataxia type 3 (MachadoJoseph disease) http://www.hhmi.org/biointeractive/neuroscience/polyglutamine_disease.html

Related Stories: Huda Zoghbi, M.D. Learning in the Lab Learning from Patients: Inspiration and Insights The Puzzle of Rett Syndrome Polyglutamine Diseases: A Devastating Genetic Stutter By Laura Bonetta Like a tiny time bomb, a genetic mutation can remain silent for many years before striking suddenly. Consider the mutation that causes the neurological disease spinocerebellar ataxia type 1 (SCA1). A person with this mutation in his or her DNA will usually be healthy until about 20 to 40 years of age and then will start having problems with balance and speech and perhaps lose muscle strength in the arms and legs. While the symptoms are barely noticeable at first, they progressively worsen, and typically the person dies from breathing difficulties within 20 years. gene has expanded and is not interrupted by CAT. A person with a gene typically increases as the mutant gene is transmitted from parent to child. As the number of repeats increases with each generation, those who inherit the mutant gene develop symptoms earlier in life, and the symptoms are more severe. Trinucleotide Repeat Diseases SCA1 is just one example of a class of genetic diseases caused by dynamic mutations involving the expansion of triplet sequence repeats. In reference to this common mechanism, these disorders are called trinucleotide repeat diseases. At least 14 such diseases are known to affect human beings. Nine of them, including SCA1 and Huntington disease, have CAG as the repeated sequence (see table). Since CAG codes for an amino acid called glutamine, these nine trinucleotide repeat disorders are collectively known as polyglutamine diseases.

86. National Cancer Institute - Questions And Answers: Ataxia Telangiectasia ataxia telangiectasia (AT) is a rare, recessive genetic disorder of childhoodthat occurs in between one out of 40000 and one out of 100000 persons http://www.cancer.gov/newscenter/ATMQandA

var bSearchBoxBool=false; Posted: Page Options Print This Page E-Mail This Document Search Fact Sheets Quick Links Director's Corner Dictionary of Cancer Terms NCI Drug Dictionary Funding Opportunities ... NIH Calendar of Events Questions and Answers: Ataxia Telangiectasia Key Points What is ataxia telangiectasia? Ataxia telangiectasia (A-T) is a rare, recessive genetic disorder of childhood that occurs in between one out of 40,000 and one out of 100,000 persons worldwide. The ailment is progressive. Patients with A-T are frequently wheelchair-bound by their teens, and the disease is generally fatal by their 20s. (Question 1) Is the disorder curable? There is no cure for A-T at this time. The cloning and sequencing of the gene (named ATM, for ataxia telangiectasia, mutated) has opened several avenues of research to develop better treatment, including: (1) gene therapy; (2) the design of drugs to correct the function of the altered protein; and (3) direct replacement of the functional protein. (Question 2) What does it mean that the disorder is recessive?

87. Imperial - Medical Genetics Genetic Knowledge Information into Schools (Research Grouping). Hereditary AtaxiaResearch Group (Research Grouping) http://www.imperial.ac.uk/medicine/about/divisions/medicine/medical_genetics/def

Quick Navigation Imperial home page A-Z of Departments Courses Research Alumni Tanaka Business School Faculty of Engineering Faculty of Life Sciences Faculty of Medicine Faculty of Physical Sciences Spectrum (restricted to College users) People finder Help Your browser does not support javascript or you have javascript turned off. Although this will not affect your accessibility to the content of this site, some of the advanced navigation features may not be available to you. Faculty of Medicine About the Faculty Departments and Divisions Medicine Medical Genetics Note: Some of the graphical elements of this site are only visible to browsers that support accepted web standards . The content of this site is, however, accessible to any browser or Internet device. »  ..up.. »  Medical Genetics Medical Genetics Sharing space with the North West Thames NHS Regional Genetics Service (Kennedy Galton Centre) at Northwick Park Hospital, the Section undertakes community and patient-based genetics research.  The Section has 16 staff and research students including four academics. The main areas of current molecular genetics research are congenital heart defects and chromosome 21 in Down's syndrome; genes involved in obesity, female reproductive disorders and disorders of pregnancy; and Friedreich’s ataxia.  The Section forms the Imperial College London arm of the London IDEAS Genetics Knowledge Park, a government funded programme of research and education uniting London Medical Schools and NHS genetics service providers.

88. Elsevier.com - Genetic Instabilities And Hereditary Neurological For students and researchers alike, Genetic Instabilities and Hereditary Mandel, Y. Agid, and A. Brice, Autosomal Dominant Cerebellar ataxia with http://www.elsevier.com/wps/product/cws_home/673310

Home Site map Regional Sites Advanced Product Search ... Genetic Instabilities and Hereditary Neurological Diseases Book information Product description Audience Author information and services Ordering information Bibliographic and ordering information Conditions of sale Book related information Submit your book proposal Other books in same subject area About Elsevier Select your view GENETIC INSTABILITIES AND HEREDITARY NEUROLOGICAL DISEASES To order this title, and for more information, go to http://books.elsevier.com/bookscat/links/details.asp?isbn=0127429352 Edited By Robert Wells Stephen Warren , Emory University School of Medicine, Atlanta, Georgia, U.S.A. Marion Sarmiento Description This book represents the first authoritative review of all neurological diseases related to repeat expansions. Some of the diseases covered in this volume include fragile X syndrome, spino and bulbar muscular atrophy, myotonic dystrophy, spinocerebellar ataxia type 1 and type 7, Huntingtons disease, and Friedreichs ataxia. The book describes investigations into the underlying molecular mechanisms responsible for these syndromes. For students and researchers alike, Genetic Instabilities and Hereditary Neurological Diseases serves as a comprehensive treatise covering many aspects of all neurological diseases.

89. FIRSTConsult - Sdfdsf Genetic testing for Friedreich s ataxia is now commercially available to detect If there is a positive family history of Friedreich s ataxia, genetic http://www.firstconsult.com/?action=view_article&id=1014459&type=101&bref=1

90. Friedreich Ataxia Pandolfo M and Koenig M (1998) Friedreich ataxia. In Genetic instabilities andhereditary neurological diseases, Wells RD and Warren ST (eds) pp. 373398. http://www.charite.de/ch/medgen/eumedis/neurogenetics05/friedreich-ataxia.html

Home Up Up topic About Clinical and genetic aspect of autosomal dominant cerebellar ataxia type II (ADCA II) Autosomal dominant cerebellar ataxias Physiopathological aspects of spinocerebellar ataxias ... Clinical aspects of the autosomal recessive cerebellar ataxias. Friedreich ataxia Clinical and genetic aspect of ataxia with vitamin E deficiency Classification of Charcot-Marie-Tooth Neuropathy (CMT) and genetic aspects of autosomal recessive demyelinating forms Genetic Aspects of Autosomal Recessive Axonal form of Charcot-Marie-Thooth Disease (ARCMT2) Dominant forms of Charcot-Marie-Tooth diseases ... Glycogen Storage Myopathies: from clinical features to treatment Font size: Friedreich ataxia Michel Koenig Table of Contents Pathology Electrophysiology Clinical description Mutations ... References Friedreich ataxia is the most common cause of inherited ataxia in Caucasian populations. It affects the spinal cord and the heart, is of autosomal recessive inheritance and is due to the partial deficiency of a mitochondrial protein, frataxin, thought to be involved in the biogenesis of iron-sulphur clusters. The major mutation is a trinucleotide repeat expansion in intron 1 of the frataxin gene, that causes reduced synthesis of the corresponding transcript. Pathology Electrophysiology The sensory neuropathy is defined by axonal degeneration (as opposed to a demyelinating neuropathy), with moderately reduced conduction velocities but important reduction of the amplitude of the potentials, prior to complete axonal loss. There is no or very mild motor neuropathy. Reductions of the central sensory action potentials confirm the involvement of the posterior columns of the spinal cord.

91. Friedreich's Ataxia Fact Sheet: National Institute Of Neurological Disorders And Friedreich s ataxia is the first known recessive genetic disease that is caused Genetic counselors can help explain how Friedreich s ataxia is inherited http://www.ninds.nih.gov/disorders/friedreichs_ataxia/detail_friedreichs_ataxia.

Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system More about Friedreich's Ataxia Studies with patients Research literature Press releases Search NINDS... (help) Contact Us My Privacy NINDS is part of the National Institutes of Health You are here: Home Disorders Friedreich's Ataxia Friedreich's Ataxia Fact Sheet Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) 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 get more information? What is Friedreich's ataxia? Friedreich's ataxia, although rare, is the most prevalent inherited ataxia, affecting about 1 in every 50,000 people in the United States. Males and females are affected equally. top What are the signs and symptoms? Other symptoms that may occur include chest pain, shortness of breath, and heart palpitations. These symptoms are the result of various forms of heart disease that often accompany Friedreich's ataxia, such as cardiomyopathy (enlargement of the heart), myocardial fibrosis (formation of fiber-like material in the muscles of the heart), and cardiac failure. Heart rhythm abnormalities such as tachycardia (fast heart rate) and heart block (impaired conduction of cardiac impulses within the heart) are also common. About 20 percent of people with Friedreich's ataxia develop carbohydrate intolerance and 10 percent develop diabetes mellitus. Some people lose hearing or eyesight.

92. Clinical Trial: Transitional Life Events In Patients With Friedreich's Ataxia: I Friedreich s ataxia is a rare genetic disorder in which patients experienceprogressive muscle weakness and loss of coordination in the arms and legs. http://www.clinicaltrials.gov/ct/show/NCT00056186

Home Search Browse Resources ... About Transitional Life Events in Patients with Friedreich's Ataxia: Implications for Genetic Counseling This study has been completed. Sponsored by: National Human Genome Research Institute (NHGRI) Information provided by: National Institutes of Health Clinical Center (CC) ClinicalTrials.gov Identifier: Purpose The purposes of this study are to learn about significant life changes for people with Friedreich's ataxia and about patients' experiences with health care providers. Friedreich's ataxia is a rare genetic disorder in which patients experience progressive muscle weakness and loss of coordination in the arms and legs. They may have other complications, such as vision and hearing impairment, dysarthria, scoliosis, diabetes, and heart disease. The study will explore the impact of this chronic progressive illness on transitional life events, such as career choice and marriage, and the role of family members and health care providers-particularly genetic counselors-in helping patients progress through these events. Patients with Friedreich's ataxia who are 18 years of age or older may be eligible for this study. Those enrolled will participate in a 45- to 60-minute interview by phone or in person, in which they will be asked questions about important changes in their lives and their past experiences with health care providers. The interview will be audiotaped.

93. MedlinePlus Medical Encyclopedia: Friedreich's Ataxia Friedreich s ataxia is an autosomal recessive genetic disorder, meaning theaffected individual must inherit two altered genes one from the mother and one http://www.nlm.nih.gov/medlineplus/ency/article/001411.htm

@import url(/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Friedreich's ataxia Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Central nervous system Alternative names Return to top Spinocerebellar degeneration Definition Return to top Friedreich's ataxia (FRDA) is a rare inherited disease. The two main features of this disorder are: progressive loss of voluntary muscular coordination (ataxia) heart enlargement Diagnosis is usually made between ages 8 and 15, and for most by age 25. Causes, incidence, and risk factors Return to top Friedreich's ataxia is an autosomal recessive genetic disorder, meaning the affected individual must inherit two altered genes - one from the mother and one from the father. A gene called Frataxin FXN ), located on chromosome 9, is involved. Changes in the gene result in many extra copies of a DNA segment called a trinucleotide repeat (GAA). Individuals without Friedreich ataxia have anywhere from 8 to 30 copies of this GAA segment. Individuals with FRDA have as many as 1,000 copies. The more copies of GAA the individual has, the earlier the onset of the disease and the faster it progresses. Incidence is 1 in 22,000-29,000 and risk factors include family history.

94. Entrez PubMed Cystic Fibrosis/genetics; Epilepsies, Myoclonic/genetics; FriedreichAtaxia/genetics; Genetic Diseases, Inborn/genetics*; Genetic Markers; Humans http://arthritis-research.com/pubmed/9199574

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95. A Hereditary Ataxia Caused By Huntington's-Type "Genetic Stutter": National Inst The National Institute of Neurological Disorders and Stroke (NINDS) is the leadingsupporter of biomedical research on disorders of the brain and nervous http://accessible.ninds.nih.gov/news_and_events/press_releases/pressrelease_sca1

News and Events - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders Funding ... Jobs and Training You are here: Home News and Events Press Releases News and Events section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. News Press Releases - you are in this section News Articles Funding News Events Calendar of Events Proceedings Online Events Congressional Testimony NINDS Search (search help) Contact Us My Privacy NINDS is part of the National Institutes of Health Content for this page A Hereditary Ataxia Caused by Huntington's-Type "Genetic Stutter" For release: Wednesday, June 30, 1993 Overview Get Web page suited for printing Email this to a friend or colleague Scientists have discovered that another nervous system degenerative disorder, spinocerebellar ataxia type 1 (SCA1), has the same type of gene mutation occurring in Huntington's and Kennedy's diseases. Two teams of research scientists funded by the National Institute of Neurological Disorders and Stroke (NINDS) announced their discovery of the "genetic stutter" in this week's Nature Genetics "For the 10,000 or so Americans who have SCA1 and their families, this discovery means that we will soon have a relatively inexpensive test to confirm diagnosis, even though we don't yet have a cure," said NINDS director Dr. Murray Goldstein. "In addition, new techniques to screen for these repeats may be a shortcut to finding genes causing other disorders; the sooner we find a disease-related gene, the sooner we can learn what goes wrong in the cell. There may be common mechanisms of action, and this study provides a clear lead."

96. Scientists Identify Gene For Spinocerebellar Ataxia 2: National Institute Of Neu The discovery of the SCA2 gene will allow more specific genetic testing for people One family with SCA2 might develop ataxia, for example, while another http://accessible.ninds.nih.gov/news_and_events/press_releases/press_release_spi

News and Events - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders Funding ... Jobs and Training You are here: Home News and Events Press Releases News and Events section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. News Press Releases - you are in this section News Articles Funding News Events Calendar of Events Proceedings Online Events Congressional Testimony NINDS Search (search help) Contact Us My Privacy NINDS is part of the National Institutes of Health Content for this page Scientists Identify Gene for Spinocerebellar Ataxia 2 For release: Thursday, October 31, 1996 Overview Get Web page suited for printing Email this to a friend or colleague Scientists have identified the gene altered in one of the most common hereditary ataxias, spinocerebellar ataxia 2 (SCA2). The discovery allows improved genetic testing and provides new clues about how genetic mutations cause several neurological disorders, including Huntington's disease. The findings are reported by three different groups in the November issue of Nature Genetics.* The gene, found on chromosome 12, normally contains a string of 15 to 29 repeats of a three-base (trinucleotide) sequence in the genetic code cytosine, adenine, and guanine, or CAG. In people with SCA2, however, the gene contains from 36 to 59 CAG repeats. Each CAG trinucleotide codes for a single amino acid called glutamine, so these CAG repeats result in a long string of glutamines (also known as a polyglutamine) that interrupts the sequence of a normal protein. CAG repeat mutations have previously been linked to Huntington's and four other diseases.

97. GEMdatabase - Browse Titles Spinocerebellar ataxia Type 1 This review focuses on the diagnosis, management,and genetic counseling of patients and families with spinocerebellar ataxia http://www.gemdatabase.org/GEMDatabase/BrowseTitles.asp?curpage=41

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