81. Friedreich's Ataxia The following is a brief look at friedreich s ataxia (FA). friedreich s ataxiais a rare, genetic, progressive, neurological disorder first discovered http://www.geocities.com/andysannex/fa.html

Home Friedreich's Ataxia Andy's Stuff Links ... Contact The following is a brief look at Friedreich's Ataxia (FA). I will explain what FA is and its typical symptoms. It is important to note that this disease affects everyone differently and I feel it is meaningful to understand the different experiences of everyone afflicted with FA. What is Friedreich's Ataxia? What Causes FA? What are the symtoms of FA? FA Research ... My Story What is Friedreich's Ataxia? Friedreich's Ataxia is a rare, genetic, progressive, neurological disorder first discovered in the early 1860's by Nicholaus Friedreich. This disease affects the cerebellum and the nervous system. FA affects about one in 50,000 people, making it the most common in a group of related disorders called hereditary ataxias. In 1996 the FAgene was located on chromosome 9 by researchers in Houston, Texas. FA is not contagious. It’s a hereditary disease, caused by a defective gene that can be passed down through a family from one generation to the next. Usually the first symptoms are clumsiness or lack of coordination of the arms and/or legs, muscle weakness, inability to run, difficulty walking caused by ataxia which means - a loss of balance and coordination. Symptoms may also include, heart conditions, diabetes, scoliosis, some hearing and vision loss. Its effects on the heart range from mild, nonsymptomatic abnormalities to life-threatening problems in the heart’s musculature. Symptoms usually begin in childhood or early adolescence but sometimes they may appear later in adult-hood. It doesn’t affect parts of the brain involved in thinking. As time goes on, this disease and its symptoms will progress until individuals MAY need a wheelchair for mobility.

82. Pipet's Parlour: Friedreich's Ataxia current research and information about friedreich s ataxia. http://www.geocities.com/CapeCanaveral/Lab/6801/frataxin.html

pipet's parlour friedreich's ataxia site navigation research in the news learning links the human genome genetics primer my research Bipolar disorder    Friedreich's ataxia NIH Mock Proposal Specific Aims Background and Significance Research Design and Methods References ... home This page is dedicated to my cousin, Jennifer Jackson. My Research Proposal Read my mock research proposal, Deciphering the Role of Frataxin . It was written to partially fulfill the first qualifying exam of my PhD program. In it I propose experiments that could help identify a function for frataxin, the protein known to cause the devastating effects of the disease, give background info , and discuss specific experimental methods Friedreich's ataxia links Muscular Dystrophy Association of AustraliaFriedreich's Ataxia Describes many features of the disease. Correction note: lab tests to detect carriers are available as the exact genetic cause of the disease is now known. International Network of Ataxia Friends Find out more about the disease, the latest research announcements, and support information. Note: National Ataxia Foundation links have been buggy lately!

83. Ataxia, Friedreich's friedreich s ataxia is a genetic, progressive, neurologic movement disorder thattypically becomes apparent before adolescence. Initial symptoms may include http://www.bchealthguide.org/kbase/nord/nord7.htm

var hwPrint=1;var hwDocHWID="nord7";var hwDocTitle="Ataxia, Friedreich's";var hwRank="1";var hwSectionHWID="nord7-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Ataxia, Friedreich's Important It is possible that the main title of the report Ataxia, Friedreich's is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Friedreich's Disease Friedreich's Tabes Hereditary Ataxia, Friedrich's Type Spinal Ataxia, Hereditofamilial FRDA Disorder Subdivisions None General Discussion Friedreich's Ataxia may be inherited as an autosomal recessive trait. Cases in which a family history of the disease has not been found may represent new genetic changes (mutations) that occur spontaneously (sporadically). Friedreich's Ataxia results from mutations of a gene known as "X25" or "frataxin" located on the long arm (q) of chromosome 9 (9q13). In most affected individuals, the frataxin gene contains errors in the coded "building blocks" (nucleotide bases) that make up the gene's instructions. The symptoms and findings associated with Friedreich's Ataxia are thought to result primarily from degenerative changes of nerve fibers of the spinal cord as well as peripheral nerves, which are the motor and sensory nerves and groups of nerve cell bodies (ganglia) outside the brain and spinal cord. Resources March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue

84. Health Information Resource Database: Friedreich's Ataxia Research Alliance The friedreich s ataxia Research Alliance (FARA) is a national nonprofit organizationdedicated to the pursuit of educational, scientific and research http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR3288

85. FIRSTConsult - Sdfdsf FIRSTConsult, friedreich s ataxia (Medical Condition File). Published for medicalstudents and primary healthcare providers by Elsevier. http://www.firstconsult.com/?action=view_article&id=1014459&type=101&bref=1

86. Ataxia, Friedreich's - St. Joseph Mercy, Ann Arbor Michigan ataxia, friedreich s St. Joseph Mercy Health System Hospitals serving Ann Arbor,SE Michigan, Washtenaw County, Livingston County, Wayne County, http://www.sjmercyhealth.org/12609.cfm

@import url(default.css); Online Health Information Health Information - Rare Diseases and Disorders Back to Health Library Print This Page Email to a Friend National Organization for Rare Disorders, Inc. Ataxia, Friedreich's Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Ataxia, Friedreich's is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Friedreich's Disease Friedreich's Tabes Hereditary Ataxia, Friedrich's Type Spinal Ataxia, Hereditofamilial FRDA Disorder Subdivisions None General Discussion Friedreich's Ataxia may be inherited as an autosomal recessive trait. Cases in which a family history of the disease has not been found may represent new genetic changes (mutations) that occur spontaneously (sporadically). Friedreich's Ataxia results from mutations of a gene known as "X25" or "frataxin" located on the long arm (q) of chromosome 9 (9q13). In most affected individuals, the frataxin gene contains errors in the coded "building blocks" (nucleotide bases) that make up the gene's instructions. The symptoms and findings associated with Friedreich's Ataxia are thought to result primarily from degenerative changes of nerve fibers of the spinal cord as well as peripheral nerves, which are the motor and sensory nerves and groups of nerve cell bodies (ganglia) outside the brain and spinal cord.

87. Friedreich's Ataxia friedreich s ataxia is a slowly progressive disorder of the nervous system andmuscles. What other conditions are associated with friedreich s ataxia? http://www.muscle.ca/content/index.php?id=152

88. NEJM -- Genetic Abnormalities In Friedreich's Ataxia Correspondence from The New England Journal of Medicine Genetic Abnormalitiesin friedreich s ataxia. http://content.nejm.org/cgi/content/short/336/14/1021

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Correction to Rosenberg, N Engl J Med 335 (16) 1222-1224 October 17, 1996. Previous Volume 336:1021-1023 April 3, 1997 Number 14 Next Genetic Abnormalities in Friedreich's Ataxia Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings. Full Text Add to Personal Archive Add to Citation Manager E-mail When Cited ... PubMed Citation To the Editor: correlated the phenotypic features of Friedreich's ataxia and the size of an intronic GAA-triplet repeat in the gene that causes the disease, and concluded that "the clinical spectrum of Friedreich's ataxia is broader than previously recognized" and that "the direct molecular test for the GAA expansion on chromosome 9 is useful for diagnosis, determination of prognosis, and genetic counseling." We disagree with these conclusions. For many years the diagnosis of Friedreich's ataxia has been based on clinical criteria. According to these criteria, 103 of their patients had typical Friedreich's Full Text of this Article References This article has been cited by other articles: Delatycki, M. B, Williamson, R., Forrest, S. M (2000). Friedreich ataxia: an overview.

89. NEJM -- Genetic Abnormalities In Friedreich's Ataxia Correspondence from The New England Journal of Medicine Genetic Abnormalitiesin friedreich s ataxia. http://content.nejm.org/cgi/content/full/336/14/1021

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Correction to Rosenberg, N Engl J Med 335 (16) 1222-1224 October 17, 1996. Previous Volume 336:1021-1023 April 3, 1997 Number 14 Next Genetic Abnormalities in Friedreich's Ataxia Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited ... PubMed Citation To the Editor: correlated the phenotypic features of Friedreich's ataxia and the size of an intronic GAA-triplet repeat in the gene that causes the disease, and concluded that "the clinical spectrum of Friedreich's ataxia is broader than previously recognized" and that "the direct molecular test for the GAA expansion on chromosome 9 is useful for diagnosis, determination of prognosis, and genetic counseling." We disagree with these conclusions. For many years the diagnosis of Friedreich's ataxia has been based on clinical criteria. According to these criteria, 103 of their patients had typical Friedreich's ataxia, whereas 74 did not have at least one essential feature and are described as having atypical Friedreich's ataxia. We are concerned that

90. ´Exciting Scientific Advances´ Trigger Hope On ´Friedreich´s They are increasingly certain they will conquer friedreich s ataxia, friedreich s ataxia, although rare, is the most prevalent inherited ataxia, http://news.findlaw.com/prnewswire/20050516/16may2005115357.html

91. Sweet FA - Friedreich's Ataxia A light hearted, personal account of living with friedreich s ataxia, as well asa motivational story about overcoming adversity. http://e-bility.com/books/sweetfa.shtml

e-bility: Book Reviews next review index previous review Sweet FA - Living with Friedreich's Ataxia. Anne Patterson. For a long time Anne didn't know she had Friedreich's Ataxia. Her life was exciting, she was young and following her obsession to travel and see Australia. She remembers with good humour an early incident, when tired and unsteady on her feet she was picked up by the Adelaide police, who had come to the unfortunate conclusion she was on drugs. Without a medical explanation to offer they marched her down to the police station for an interview, after which she was allowed to go - but not without paying the price of wounded pride! Friedreich's Ataxia is a rare hereditary condition caused by degenerative changes in the nerve tracts and nerve cells of the spinal cord and brain. It usually occurs in young people, generally before the age of 20. In the early stages the main symptom is unsteadiness of gait. As it progresses difficulties with speech, hand tremors, feet deformities and spinal curvature may be present [from preface]. Anne's parents had thought something may be wrong when she was around 16 years old, but never discussed it with her. She remained blissfully unaware during these early years ... Once she overheard some boys saying she must be drunk, but knowing she hadn't been drinking she assumed they must be drunk instead! When her father admonished her for not being able to carry a glass of water to the table, she practiced until she could. She was stubborn and she was a teenager, and these small problems were not going to stop her doing what she wanted to do. At this stage she still had no medical answers about what was causing the difficulties she was experiencing, her focus was on finding practical solutions so she could keep travelling. The doctor had simply told her she could be run down, advising her to slow down and learn to relax.

92. Friedreich's Ataxia Research Alliance Case Study | Eds.com When researchers at the University of Pennsylvania wanted to take a rare neurologicaldisease from the research phase to the treatment era, it looked to EDS http://www.eds.com/services/casestudies/ataxia.aspx

Note: You are experiencing only the raw content of this site, without the intended layout and design. Either your browser has ignored the Cascading Style Sheet (CSS) files for this site, or you are using an outdated browser which does not support Web Standards. Learn more. All of eds.com About EDS Services Industries News and Events News Releases only Investor Tips Advanced About EDS Services ... Case Studies Friedreich's Ataxia Friedreich's Ataxia Research Alliance Case Study When researchers at the University of Pennsylvania wanted to take a rare neurological disease from the research phase to the treatment era, it looked to EDS to revamp the time-consuming manual processes ailing its data gathering capabilities. Using leading-edge Microsoft software, EDS built an automated Web solution for collecting patient data and accelerating drug trials toward a cure. The Business Issue Now that we have a secure Web-based environment to collect and crunch data, we’re able to test drugs more thoroughly and efficiently. But beyond the quantitative, we also have a complete view of our patient histories with measures for gauging progress. This adds richness, depth and relevance to our findings. Dr. Robert Wilson

93. Clinical Trial: Transitional Life Events In Patients With Friedreich's Ataxia: I friedreich s ataxia is a rare genetic disorder in which patients experience Patients with friedreich s ataxia who are 18 years of age or older may be 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.

94. Alternative Medicine Review: Friedreich's Ataxia: Disease Mechanisms, Antioxidan Full text of the article, friedreich s ataxia disease mechanisms, antioxidantand coenzyme Q10 therapy from Alternative Medicine Review, a publication in http://www.findarticles.com/p/articles/mi_m0FDN/is_1_9/ai_114563506

@import url(/css/us/style1.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); @import url(/css/us/artHome1.css); Advanced Search Home Help IN free articles only all articles this publication Automotive Sports 10,000,000 articles - not found on any other search engine. FindArticles Alternative Medicine Review March 2004 Content provided in partnership with 10,000,000 articles Not found on any other search engine. Related Searches Mitochondria / Reports Mitochondria / Physiological aspects Movement disorders / Care and treatment Movement disorders / Reports ... Friedreich's ataxia / Physiological aspects Featured Titles for AAACN Viewpoint ABNF Journal, The AIDS Treatment News AMAA Journal ... View all titles in this topic Hot New Articles by Topic Automotive Sports Top Articles Ever by Topic Automotive Sports Friedreich's ataxia: disease mechanisms, antioxidant and coenzyme Q10 therapy Alternative Medicine Review March, 2004 by J.M. Cooper A.H. Schapira Save a personal copy of this article and quickly find it again with Furl.net. It's free! Save it.

95. MDAchat | Muscular Dystrophy Association Wed., Mar. 19, 2003 Muscular Dystrophy Association (MDA). MDA CLINICALRESEARCHCHAT. friedreich S ataxia . Guest Host. Tahseen Mozaffar, MD http://database.azstarnet.com/html/mda/transcripts/20030319MDA-Clinic-Research.h

Enter Chat FAQ Calendar User Policy ... Email Comments MDAchat Chat Transcripts 05:15 PM - 06:45 PM EST Friedreichs-Ataxia / MDA-Clinic-Research Wed., Mar. 19, 2003 Muscular Dystrophy Association (MDA) MDA CLINICAL-RESEARCH CHAT "FRIEDREICH'S ATAXIA" Guest Host: Tahseen Mozaffar, M.D. DR. Mozaffar obtained his M.D. from the Aga Khan University in Karachi, Pakistan and trained in neurology at Washington University in St. Louis. At Washington University's Jerry Lewis Neuromuscular Research Center, he was a clinical and research fellow in neuromuscular disorders. He held faculty positions at Washington University and at the Aga Khan University before his appointment as Assistant Professor and Director of the Neuromuscular Program at University of California at Irvine (UCI). He directs the MDA Clinic and the UCI MDA-ALS Research and Clinical Center. He has published over a dozen articles in peer-reviewed journals. His interest in basic research is mechanisms of muscle atrophy and in clinical research is estimation of exercise tolerance in neuromuscular disorders. MDA Hosts: Sharon Hesterlee, Ph.D., Director of Research Development

96. Friedreich's Ataxia Fact Sheet: National Institute Of Neurological Disorders And What services are useful to friedreich s ataxia patients and their families? friedreich s ataxia is an inherited disease that causes progressive damage http://accessible.ninds.nih.gov/disorders/friedreichs_ataxia/detail_friedreichs_

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section Funding ... Jobs and Training You are here: Home Disorders Friedreich's Ataxia Disorders 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. More about Friedreich's Ataxia Studies with patients Research literature Press releases NINDS Search (search help) Contact Us My Privacy NINDS is part of the National Institutes of Health Content for this page 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 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.

97. Study May Reveal Clues To Friedreich's Ataxia: National Institute Of Neurologica 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_frie

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 Study May Reveal Clues To Friedreich's Ataxia For release: Friday, June 13, 1997 Overview Get Web page suited for printing Email this to a friend or colleague For years neurologists witnessed the slow decline of their Friedreich's ataxia patients, helpless to prevent damage to the spinal cord, heart and pancreas. The cause of the damage always eluded researchers until now. A new study in the June 13, 1997, issue of Science* may offer an explanation for this neurodegenerative disease and eventually lead to the development of treatments. The study, sponsored by the National Institute of Neurological Disorders and Stroke and by the National Institute of Diabetes and Digestive and Kidney Diseases, examines a yeast protein similar to the human protein coded by the Friedreich's ataxia gene. The study traces the path of the yeast protein to the mitochondria, the energy-producing power plants of cells, and demonstrates the protein's role in controlling the levels of iron, an essential element in cell metabolism. The absence of this protein in a cell leads to a toxic buildup of iron in the mitochondria. This "iron overload" reacts with oxygen, producing free radicals, toxic and highly reactive substances that kill the mitochondria and compromise cell metabolism. Eventually, cells shut down and die from oxidative damage to the lipids, proteins and nucleic acids, the essential structures of cells.

98. Friedreich-ataxia (FA) Met erfelijkheid heeft iedereen te maken. Het Erfocentrum heeft informatie voormensen die meer willen weten over een bepaalde erfelijke ziekte of http://www.erfelijkheid.nl/zena/fried.php

A B C D ... OVERIG Friedreich-ataxia (FA) Korte beschrijving FA is een aangeboren ziekte waarbij geleidelijk het weefsel van de kleine hersenen, het ruggemerg en de gevoelszenuwen wordt afgebroken. Als gevolg van deze afbraak treedt functieverlies van het zenuwstelsel op. De klachten beginnen voor het 20e levensjaar. Er ontstaan in ernst toenemende coördinatiestoornissen, stoornissen in het gevoel, spraakstoornissen en doofheid. Bij 10% bestaat diabetes mellitus (suikerziekte). Bovendien ontwikkelt zich een afwijking van de hartspier, waardoor een stoornis in de functie van het hart kan ontstaan. Dit is de meest voorkomende oorzaak van overlijden. De gemiddelde levensverwachting is op dit moment boven de 30 jaar. Diagnose Naast het hebben van bovengenoemde kenmerken, wordt de diagnose bevestigd door neurologisch en genetisch onderzoek. Behandeling Een aangeboren aandoening is niet te genezen. De behandeling richt zich voor zover mogelijk op vermindering en verlichting van de klachten. Voorkomen (frequentie) Deze aandoening komt bij 1-2 per 100.000 mensen voor.

99. Healthfinder® - Friedreich's Ataxia Carefully selected government and nonprofit health information on friedreich s ataxia. http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=332

100. NIH Press Release - Study May Reveal Clues To Friedreich's Ataxia - 06/12/1997 friedreich’s ataxia strikes about one in every 50000 persons. In the affectedcells of friedreich’s ataxia patients, the amount of the protein appears http://www.nih.gov/news/pr/jun97/ninds-12.htm

NATIONAL INSTITUTES OF HEALTH National Institute of Neurological Disorders and Stroke EMBARGOED FOR RELEASE Thursday, Jun. 12, 1997 4:00 PM Eastern Time Marcia Vital Study May Reveal Clues to Friedreich's Ataxia For years neurologists witnessed the slow decline of their Friedreich’s ataxia patients, helpless to prevent damage to the spinal cord, heart and pancreas. The cause of the damage always eluded researchers until now. A new study in the June 13, 1997, issue of Science may offer an explanation for this neurodegenerative disease and eventually lead to the development of treatments. The study, sponsored by the National Institute of Neurological Disorders and Stroke and by the National Institute of Diabetes and Digestive and Kidney Diseases, examines a yeast protein similar to the human protein coded by the Friedreich’s ataxia gene. The study traces the path of the yeast protein to the mitochondria, the energy-producing power plants of cells, and demonstrates the protein’s role in controlling the levels of iron, an essential element in cell metabolism. The absence of this protein in a cell leads to a toxic buildup of iron in the mitochondria. This "iron overload" reacts with oxygen, producing free radicals, toxic and highly reactive substances that kill the mitochondria and compromise cell metabolism. Eventually, cells shut down and die from oxidative damage to the lipids, proteins and nucleic acids, the essential structures of cells. "I’m cautiously optimistic about the finding," says Massimo Pandolfo, M.D., a co-author of the study. "Further research may give us clues to understanding the pathogenesis of this disease and lead to treatments."

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