81. NEJM -- Clinical And Genetic Abnormalities In Patients With Friedreich's Ataxia Original Article from The New England Journal of Medicine Clinical and Genetic Abnormalities in Patients with friedreich s ataxia. http://content.nejm.org/cgi/content/short/335/16/1169

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Volume 335:1169-1175 October 17, 1996 Number 16 Next Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia Full Text PDF Letters Add to Personal Archive ... Chapters at Harrison's ABSTRACT Background Friedreich's ataxia, the most common inherited ataxia, is associated with a mutation that consists of an unstable expansion of GAA repeats in the first intron of the frataxin gene on chromosome 9, which encodes a protein of unknown function. Methods We studied 187 patients with autosomal recessive ataxia, determined the size of the GAA expansions, and analyzed the clinical manifestations in relation to the number of GAA repeats and the duration of disease. Results One hundred forty of the 187 patients, with ages at onset ranging from 2 to 51 years, were homozygous for a GAA expansion that had 120 to 1700 repeats of the trinucleotides. About one quarter of the patients, despite being homozygous, had atypical Friedreich's ataxia; they were older at presentation and had intact tendon reflexes. Larger GAA expansions correlated

82. MDAchat | Muscular Dystrophy Association friedreich S ataxia . Guest Host QUESTION I have had genetic testing (blood taken) to confirm a friedreich s ataxia (FA) diagnosis. It was inconclusive. 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

83. Introduction: Friedreich's Ataxia - WrongDiagnosis.com Introduction to friedreich s ataxia as a medical condition including symptoms, diagnosis, misdiagnosis, treatment, prevention, and prognosis. http://www.wrongdiagnosis.com/f/friedreichs_ataxia/intro.htm

Diseases IMPORTANT! Use of this site is subject to our and Home Symptoms Diseases Risks Search: We show you all these ads in order to provide this free site; give your feedback WrongDiagnosis TM Premium Report: Diabetes Diagnosis and Misdiagnosis Available Now! Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: Friedreich's ataxia Next sections Basic Summary for Friedreich's ataxia Prognosis of Friedreich's ataxia Symptoms of Friedreich's ataxia Diagnostic Tests for Friedreich's ataxia ... Complications of Friedreich's ataxia Next chapters: Spinocerebellar Ataxia Machado-Joseph Disease Dentatorubral Pallidoluysian Atrophy Leber's hereditary optic atrophy ... Feedback Introduction: Friedreich's ataxia Friedreich's ataxia: Progressive muscle weakness from nerve damage. 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. Ataxia results from the degeneration of nerve tissue in the spinal cord and of nerves that control muscle movement in the arms and legs. Contents for Friedreich's ataxia: Basic Summary for Friedreich's ataxia Prognosis of Friedreich's ataxia Symptoms of Friedreich's ataxia Diagnostic Tests for Friedreich's ataxia ... Research for Friedreich's ataxia Footnotes: 1. excerpt from

84. Nemours.org - Friedreich's Ataxia - Case Study Nemours Case Studies Caroline friedreich s ataxia. Caroline has friedreich s ataxia, a progressive and relatively rare neuromuscular http://www.nemours.org/no/cases/ataxia.html

Find a Doctor About Us Employment Alfred I. duPont Hospital ... Contact Us Nemours Case Studies Caroline: Friedreich's Ataxia Caroline has Friedreich's ataxia, a progressive and relatively rare neuromuscular disease that is similar to Lou Gehrig's disease. She was diagnosed at age nine. Now she is nearly 18 and no longer ambulatory. Her parents say it is very hard to deal with a disease that causes their child to get weaker and weaker, but "Carly's" attitude, her acceptance and her courage have given them strength. The family didn't initially come to the Alfred I. duPont Hospital for Children for treatment. They live in New Jersey, so it was more convenient to go to Philadelphia, and while Carly got good care there, they say they always felt like a number, a case - seeing different doctors every time they went. There was little discussion about treatment possibilities or Carly's potential. For a person like Carly, who wanted and expected so much of herself, it was discouraging that her health care providers didn't share her optimism. Carly's parents say they can't stress enough how meaningful it is to come into a place with a sincerely upbeat and caring attitude. "This is a place where you feel like your child is getting the utmost attention from each and every staff person. Aside from the thoroughly excellent care, which is what you expect for your child, we know first-hand that this is what sets duPont apart from the rest," says Carly's dad.

85. Friedreichs Ataxia Network,Brisbane friedreich s ataxia , a rare neurological condition, research, contacts, help available to ataxia sufferers. Welcome to the friedreich s ataxia Network. http://www.fan.asn.au/

WHAT IS FA? WHAT CAN BE DONE? FREQUENTLY ASKED QUESTIONS SPORTING WHEELIES ... NEXT MEETING Welcome to the Friedreich's Ataxia Network. We are a small group of people formed here in Brisbane to provide support, fund raising and awareness of F.A. Most of us in the group are affected by F.A but we all have a common way of thinking, and that is that life doesn't stop just because we have been handed an extra challenge to deal with. I am 33, and when I was diagnosed 4 years ago, all of the information available to me held nothing but 'doom and gloom.' I am here to tell you that it is not the case. I, like many of the others associated with F.A.N, still get out and probably enjoy life more than most of the people we know. So please use this page as a guide to resources, links, contacts and people that can help you. There is alot of help available to us and this page will become invaluable for alot of resources that I had to search for. I am finally updating this page but feed back is always welcome. So if you think there is something that should be added or you believe some of the information to be out of date, please do not hesitate to email me.

86. Arquivos Brasileiros De Cardiologia - friedreich s ataxia. In 8 (32%) cases (6 atypical and 2 typical), no GAA expansion was observed, therefore it was not considered friedreich s ataxia. http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2002000500002&l

87. Revista Do Hospital Das Clínicas - friedreich S ataxia CLINICAL AND MOLECULAR STUDY OF 25 BRAZILIAN CASES. friedreich s ataxia clinical and molecular study of 25 Brazilian cases. Rev. Hosp. http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0041-87812001000500003&l

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

89. NINDS Friedreich's Ataxia Information Page More about NINDS friedreich s ataxia Information Page. Contact us Content for this page. NINDS friedreich s ataxia Information Page. Reviewed 0701-2001 http://accessible.ninds.nih.gov/health_and_medical/disorders/friedreichs_ataxia.

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 ... Find People 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. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury More about NINDS Friedreich's Ataxia Information Page Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us Content for this page NINDS Friedreich's Ataxia Information Page Reviewed 07-01-2001 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? Is there any treatment? What is the prognosis? What research is being done? ... Related NINDS Publications and Information What is Friedreich's Ataxia? Is there any treatment?

90. Friedreich's Ataxia Fact Sheet friedreich s ataxia fact sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). friedreich s ataxia Fact Sheet. http://accessible.ninds.nih.gov/health_and_medical/pubs/friedreich_ataxia.htm

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 ... Find People 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. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury More about a disorder Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us Content for this page Friedreich's Ataxia Fact Sheet Get Web page suited for printing Email this to a friend or colleague Request free mailed brochure Table of Contents What is Friedreich's ataxia? What are the signs and symptoms? How is Friedreich's ataxia diagnosed? How is Friedreich's ataxia inherited? ... Where can I go for more information? What is Friedreich's ataxia? Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from muscle weakness and speech problems to heart disease. It is named after the physician Nicholas Friedreich, who first described the condition in the 1860's. "Ataxia," which refers to coordination problems such as clumsy or awkward movements and unsteadiness, occurs in many different diseases and conditions. In Friedreich's ataxia, ataxia results from the degeneration of nerve tissue in the spinal cord and of nerves that control muscle movement in the arms and legs. The spinal cord becomes thinner and nerve cells lose some of their myelin sheath - the insular covering on all nerve cells that helps conduct nerve impulses.

91. NIH Press Release - Study May Reveal Clues To Friedreich's Ataxia - 06/12/1997 Study May Reveal Clues to friedreich s ataxia. For years friedreich’s ataxia strikes about one in every 50,000 persons. Loss of 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."

92. InteliHealth: Friedreich's Ataxia Professional, and Prognosis. friedreich s ataxia. Health A to Z, Reviewed by the Faculty of Harvard Medical School friedreich s ataxia http://sushi.intelihealth.com/IH/ihtIH/WSIHW000/9339/11087.html

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93. Genetic Disorders Forum - Friedreich's Ataxia Information 112; 21; 31840; 42088; 5 1200D; 63; 71153-1155; 81; 92927; 10 2270; 11680 friedreich s ataxia is an inherited (genetic) disorder that causes http://ehealthforum.com/health/subject80_210316_what.html

medical questions health forums become a member log in ... homepage Welcome to our newest member: kgorman Welcome! Health Forum is an online community for health questions. Although anyone can view forum messages, only registered members are allowed to post messages. If this is your first time, please take a moment to register so you can start interacting with others. There is no fee. login: password: Friedreich's Ataxia : Information Harvard Medical School's Consumer Health Information Friedreich's Ataxia: • Diagnosis • Duration • Additional Info • Prevention ... • Ask a Question Friedreich's ataxia is a recessive disorder, which means that two copies of the abnormal ninth chromosome must be inherited (one from each parent). People who inherit only one abnormal copy (approximately one out of every 100 Americans) don't have the disease, but are "carriers" who can pass the abnormal chromosome to their children. In the United States, there is a one in 50,000 chance that a child will inherit two copies of the abnormal ninth chromosome that produces Friedreich's ataxia. In 85 percent of cases, symptoms develop before age 25, but rarely before age 5. Although people from all parts of the world suffer from Friedreich's ataxia, studies show that their ancestry is almost always European, North African, Middle Eastern or Indian (Indo-European). Related: Down Syndrome Familial Dysautonomia Friedreich's Ataxia ... Tay-Sachs Disease (*) This Content Is Reviewed by the Faculty of the Harvard Medical School; Provided by InteliHealth

94. FRDA 1999-Friedreich’s Ataxia Research Conference - Office Of Rare Diseases On April 30May 2, 1999, the National Institutes of Health (NIH) and the friedreich s ataxia Research Alliance (FARA) cosponsored a workshop on friedreich’s http://rarediseases.info.nih.gov/html/workshops/workshops/friedreichataxia199904

National Institute of Neurological Disorders and Stroke (NINDS) and the Friedrich's Ataxa Research Alliance (FARA) FRDA 1999-Friedreich’s Ataxia Research Conference Participants Robert Wilson – Principal Investigator University of Pennsylvania Scientific Organizing Committee Massimo Pandolfo University of Montreal Bronya Keats Louisiana State University Michel Koenig Strasbourg Kenneth Fischbeck NIH/NINDS NIH Participants Gerald Fishbach Director, NINDS Steve Groft Director, Office of Rare Diseases Georg Auburger NHGRI Robert Baughman NINDS Marian Emr NINDS Ed Grabcyzk NIDDK Andrea Gropman NHGRI Mark Hallett NINDS Audrey Penn NINDS Tracey Roualt NIH Philip Sheridan NINDS Giovanna Spinella NINDS Karen Usdin NIDDK Marcia Vital NINDS Peter von Gelderen NINDS Daniel Waldvogel NINDS Huber Warner NIA Steve Zullo NIMH Non-NIH Participants Flint Beal Weil Medical College Of Cornell University Sanjay Bidichandani Baylor College of Med. Alexis Brice Cps, France David Brooks University of Pennsylvania R. Stanley Burns

95. Friedreich S Ataxia friedreich s ataxia. Definition friedreich s develop. Individuals with friedreich s ataxia may also have hammer toe and high arches. http://www.shands.org/health/information/article/001411.htm

Disease Injury Nutrition Poison ... Central nervous system Friedreich's ataxia Definition: Friedreich's ataxia is an inherited form of progressive dysfunction of the cerebellum (the part of the brain responsible for movement and complex behavior), spinal cord, and peripheral nerves. Alternative Names: Spinocerebellar degeneration Causes, incidence, and risk factors: Friedreich's ataxia is an autosomal recessive condition, which means that a person must inherit the defective gene from both parents in order to be affected. It is a polyneuropathy, which means that there is damage to multiple nerves The condition affects 1 in 50,000 people. Symptoms are caused by degeneration of structures in the cerebellum and spinal cord responsible for coordination, muscle movement, and some sensory functions. Vision, particularly color vision, is often mildly affected. Hearing loss occurs in about 10% of patients. Symptoms generally begin in childhood before puberty. Early symptoms include an unsteady gait changes in speech , loss of reflexes, and jerky eye movements Abnormal muscle control and tone lead to spinal changes and scoliosis , or kyphoscoliosis may develop. Individuals with Friedreich's ataxia may also have

96. Idebenone And Reduced Cardiac Hypertrophy In Friedreich's Ataxia Idebenone and reduced cardiac hypertrophy in friedreich s ataxia. ABSTRACT. BACKGROUND friedreich s ataxia encodes a protein of unknown function, frataxin. http://www.idebenone.org/Idebenone/idebenone-research-62.htm

Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia. Hausse AO, Aggoun Y, Bonnet D, Sidi D, Munnich A, Rotig A, Rustin P. Service de Cardiologie Pediatrique, Hopital Necker-Enfants Malades, 149 rue de Sevres, Paris, France. Heart 2002 Apr;87(4):346-9 ABSTRACT BACKGROUND: Friedreich's ataxia encodes a protein of unknown function, frataxin. The loss of frataxin is caused by a large GAA trinucleotide expansion in the first intron of the gene, resulting in deficiency of a Krebs cycle enzyme, aconitase, and of three mitochondrial respiratory chain complexes (I-III). This causes oxidative stress. Idebenone , a short chain quinone acting as an antioxidant, has been shown to protect heart muscle against oxidative stress in some patients. OBJECTIVE: To assess the efficiency of idebenone on cardiac hypertrophy in Friedreich's ataxia. DESIGN: Prospective, open trial. SETTING: Tertiary care centre. METHODS: Idebenone (5 mg/kg/day) was given orally to 38 patients with Friedreich's ataxia aged 4-22 years (20 males, 18 females). Cardiac ultrasound indices were recorded before and after idebenone treatment.

97. Effect Of Idebenone On Cardiomyopathy In Friedreich's Ataxia Effect of idebenone on cardiomyopathy in friedreich s ataxia a preliminary study. Rustin P, von KleistRetzow JC, Chantrel-Groussard http://www.idebenone.org/Idebenone/idebenone-research-15.htm

Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. Rustin P, von Kleist-Retzow JC, Chantrel-Groussard K, Sidi D, Munnich A, Rotig A. Unite de Recherches sur les Handicaps Genetiques de l'Enfant (INSERM U393), Paris, France. Lancet 1999 Aug 7;354(9177):477-9 ABSTRACT BACKGROUND: Friedreich's ataxia is caused by a deficiency of frataxin, a protein involved in regulation of mitochondrial iron content. We have reported a combined deficiency of a Krebs-cycle enzyme, aconitase, and three mitochondrial respiratory-chain complexes in endomyocardial biopsy samples from patients with this disorder. All four enzymes share iron-sulphur cluster-containing proteins that are damaged by iron overload through generation of oxygen free radicals. We used an in-vitro system to elucidate the mechanism of iron-induced injury and to test the protective effects of various substances. On the basis of these results, we assessed the effect of idebenone (a free-radical scavenger) in three patients with Friedreich's ataxia. METHODS: Heart homogenates from patients with valvular stenosis were tested for respiratory-chain complex II activity, lipoperoxidation, and aconitase activity by spectrophotometric assays, in the presence of reduced iron (Fe2+), oxidised iron (Fe3+), desferrioxamine, ascorbic acid, and idebenone. The Friedreich's ataxia patients (aged 11 years, 19 years, and 21 years) underwent ultrasonographic heart measurements at baseline and after 4-9 months of idebenone (5 mg/kg daily).

98. Blackwell Synergy - Cookie Absent Expanded GAA repeats and clinical variation in friedreich s ataxia. One of the main features of friedreich s ataxia (FA) is phenotypic variability. http://www.blackwell-synergy.com/links/doi/10.1034/j.1600-0404.2003.00190.x/abs/

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99. Www.brendymurph.com The most common type of ataxia is called friedreich s ataxia (FA). friedreich s ataxia friedreich s ataxia (FA) is a rare, genetic disorder. http://www.brendymurph.com/friedreichsataxia/

Ataxia is a relatively rare neurological disorder which devastates the lives of sufferers. The most common type of ataxia is called Friedreich's ataxia (FA). It is a genetic disorder which tends to strike in the early to mid teenage years. It is a progressive disorder so the symptoms may appear to be relatively minor but as the disorder continues to rampage, it causes increasing disability. What is Ataxia? Ataxia is a symptom, not a specific disorder or diagnosis. Ataxia means clumsiness, or loss of coordination. Ataxia may affect the fingers and hands, the arms or legs, the body, speech or eye movements. This loss of coordination may be caused by a number of different medical or neurological conditions; for this reason, it is important that a person with ataxia seek medical attention to determine the underlying cause of the symptom and to get the appropriate treatment. Broadly speaking, the word "ataxia" simply means unsteadiness and clumsiness, and has been given to the condition because those are usually the earliest symptoms.

100. Friedreich's Ataxia MAIN SEARCH INDEX. friedreich s ataxia. friedreich s ataxia (FA) is an inherited, progressive nervous system disorder causing loss of balance and coordination. http://www.ehendrick.org/healthy/000563.htm

MAIN SEARCH INDEX Friedreich's ataxia Definition Description Causes and symptoms Diagnosis ... Resources Definition Friedreich's ataxia (FA) is an inherited, progressive nervous system disorder causing loss of balance and coordination. Description Ataxia is a condition marked by impaired coordination. Friedreich's ataxia is the most common inherited ataxia, affecting between 3,000-5,000 people in the United States. FA is an autosomal recessive disease, which means that two defective gene copies must be inherited to develop symptoms, one from each parent. A person with only one defective gene copy will not show signs of FA, but may pass along the gene to offspring. Couples with one child affected by FA have a 25% chance in each pregnancy of conceiving another affected child. Causes and symptoms Causes The gene for FA codes for a protein called frataxin. Normal frataxin is found in the cellular energy structures known as mitochondria, where it is thought to be involved in regulating the transport of iron. In FA, the frataxin gene on chromosome 9 is expanded with nonsense information known as a "triple repeat." This extra DNA interferes with normal production of frataxin, thereby impairing iron transport. Normally, there are 10-21 repeats of the frataxin gene. In FA, this sequence may be repeated between 200-900 times. The types of symptoms and severity of FA seems to be associated with the number of repetitions. Patients with more copies have more severe symptomatology. Researchers are still wrestling with how frataxin and the repeats on chromosome 9 are involved in causing FA. One theory suggests that FA develops in part because defects in iron transport prevent efficient use of cellular energy supplies.

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