41. Friedreich's Ataxia (FA) | MDA friedreich's ataxia (FA) Click for Materials En Español and MDAchats. Bookmark thispage! Ironing Out friedreich's ataxia 10/97. top FAQ's and Simply Stated http://www.mdausa.org/disease/fa.html

Friedreich's Ataxia (FA) Click for and MDAchats Bookmark this page! It's your source for information and news about FA and will be updated regularly. Quick Definition: Childhood to adolescence. Impairment of limb coordination, with weakness and muscle wasting. Severity and progression of disorder vary. Often associated with diabetes/heart disease. Autosomal recessive. Find Your Local MDA Do you need to find MDA in your city? Enter your Zip code here for where to turn for clinics and medical services; support groups; summer camp; local events and volunteer and fund-raising opportunities close to home. For more articles and references, please use the search feature Basic References Special FA Materials FAQ's and Simply Stated Articles ... News Releases Basic References Facts About Friedreich's Ataxia "Ask the Experts" Responses about FA "Ask the Experts" Responses to General Neuromuscular Questions Genetics and Neuromuscular Diseases ... General Interest Publications Special FA Materials Antioxidant May Help Heart in Friedreich's Ataxia Friedreich's Ataxia Update - New Mouse Model of Friedreich's Ataxia Created Ironing Out Friedreich's Ataxia FAQ's and Simply Stated... Articles

42. Matthew Law A personal web site about a life with friedreich's ataxia. http://www.geocities.com/TheTropics/Beach/4126

Welcome to my Webpage Hi everyone, my name is Matthew Law and I have designed this webpage so that those that don't know me can get to know me and those that do know me can keep up-to-date with what's going on in my life and maybe learn something you didn't already know! Please feel free to email me at : home@matthewlaw.co.uk . I would love to hear from you and I promise I will reply. Alternatively sign my Guestbook by clicking on the link at the very bottom of this page. Click on any of the four links below to find out more about me and click on the white Chelsea FC logo to see my Chelsea page.        My life with           Friedreich's Ataxia Personal Information / Interests Travels with my Wheelchair Working life Carefree... wherever you may be ....... ........ we are the famous C F C LAST UPDATED: FEBRUARY 2003 Best viewed with: The Counter in the top left hand corner records visits to this site since 17th November 1999. Sign Guestbook View Guestbook

43. Andy's Annex - Andrew Ashby's Personal Homepage Andrew Ashby's page detailing his battle with a rare, progressive, neurological disease called friedreich's ataxia. Also includes links to other sites. http://www.geocities.com/andysannex

Home Friedreich's  Ataxia Andy's Stuff Resume Links ... Contact Last Updated January 1, 2003 Best Viewed With Click here to learn more about Friedreich's Ataxia. Need a Programmer/Web Designer? Click to see my resume. Click to take my Poll. Welcome to Andy's Annex . My name is Andrew Ashby, a 31 year old guy from Kingston, Ontario, Canada . This page has been awhile in the making. The main purpose of this page is to educate and inform others of a rare and progressive neurological disease that has impacted my family, called Friedreich's Ataxia or (FA). I have a page dealing with FA, my story, my experiences, and my thoughts about the disease. You may participate in a monthly poll and see my "Things that make you say Hmmm" . Who knows you might have fun and learn something. I also have a page displaying my resume and a "Links" page with listings of other Ataxia pages, and links to the homepages of others afflicted with FA. If you wish to add your page to this site please drop me an email along with questions or comments. This page will be under constant construction and more pages and links will be added to it often, so bookmark the page and check back soon! Update - New Poll is up. Please remember to sign my guestbook.

44. FARA Home The friedreich's ataxia Research Alliance (FARA) website provides information onfriedreich's ataxia (FRDA) and the related Sporadic ataxias for researchers http://www.frda.org/

WELCOME Welcome to the website of the Friedreich's Ataxia Research Alliance (FARA). You will find information on Friedreich's Ataxia (FRDA) and the related Sporadic Ataxias, including current research, abstracts and links to publications from scientific and medical journals, completed research, ongoing studies, as well as information for researchers, patients, patient families, and caregivers. The site also offers support and information for newly-diagnosed families Friedreich's Ataxia Awareness Day - May 17, 2003 Walkathon Sponsor Form Flier Site Organization The FARA web site is divided into three main levels to help you find the information you need: Research provides resources for researchers and families. Education provides resources for patients and their families. Advocacy provides information about FARA and how you can help support the FRDA community. Research Patient Recruitment Underway - Idebenone Clinical Trial Scientific Developments Patient Database Registration Research Weblinks ... Where I can turn for help Provides information about and links to: Internet support groups;

45. Friedreich's Ataxia friedreich'S ataxia (FRDA) is a rare inherited disease characterized by the progressiveloss of voluntary muscular coordination (ataxia) and heart enlargement. http://www.ncbi.nlm.nih.gov/disease/Frda.html

This Genes and Disease page has been moved to: Please update your bookmarks. If you are not automatically transported to the new page after 15 seconds, click on this link Genome View FRDA on chromosome 9 Databases PubMed the literature LocusLink collection of gene-related information OMIM catalog of human genes and disorders Information National Ataxia Foundation supporting research into Hereditary Ataxia GeneClinics a medical genetics knowledge base for disease FRIEDREICH'S ATAXIA (FRDA) is a rare inherited disease characterized by the progressive loss of voluntary muscular coordination (ataxia) and heart enlargement. It is named after the German doctor, Nikolaus Friedreich, who first described the disease in 1863. FRDA is generally diagnosed in childhood and affects both males and females. FRDA is an autosomal recessive disease caused by a mutation of a gene called frataxin, which is located on chromosome 9. This mutation means that there are many extra copies of a DNA segment, the trinucleotide GAA. A normal individual has 8 to 30 copies of this trinucleotide, while FRDA patients have as many as 1000. The larger the number of GAA copies, the earlier the onset of the disease and the quicker the decline of the patient. Although we know that frataxin is found in the mitochondria of humans, we do not yet know its function. However, there is a very similar protein in yeast, YFH1, which we know more about. YFH1 is involved in controlling iron levels and respiratory function. Since frataxin and YFH1 are so similar, studying YFH1 may help us understand the role of frataxin in FRDA.

46. Entrez-PubMed Click here to read Fragile X syndrome and friedreich's ataxia twodifferent paradigms for repeat induced transcript insufficiency. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

47. The Contact A Family Directory - FRIEDREICH'S ATAXIA printer friendly, friedreich'S ataxia, friedreich's ataxia recessivespinocerebellar degeneration. friedreich's ataxia is a genetic http://www.cafamily.org.uk/Direct/f36.html

printer friendly FRIEDREICH'S ATAXIA home more about us in your area conditions information ... how you can help search this site Friedreich's Ataxia: recessive spino-cerebellar degeneration Friedreich's Ataxia is a genetic disorder characterised by a progressive degeneration of the spino-cerebellar system due to an abnormality of a gene on chromosome 9 (called Frataxin). The first sign of the disorder is unsteadiness of gait (ataxia). The onset of the condition is variable but usually occurs between the ages of four and sixteen (but occasionally between 18 months and thirty years). Although most cases present under the age of 25 very rarely it may produce with an ataxia of much later onset. An onset into the 6th and 7th decades have been found. Therefore it is worth considering even in older patients if some of the other clinical hallmarks are present. The genetic abnormality in the majority (95% plus) is an expansion in the genetic code in the Friedreich ataxia gene. This expansion can be readily detected using a variety of molecular methods. However a small percentage (less than 5%) may just have one expansion in one copy of their gene and the other copy may have a much more subtle abnormality called a point mutation. These latter abnormalities are more difficult to detect and need to be specially requested from the laboratory. The onset of the condition is insidious and affects co-ordination of the muscles used in speech, the arms and legs.

48. The Freidriechs Ataxia Association Of NSW Readers will notice very quickly that it points up how far the researchinto friedreich’s ataxia has come in the past six years. http://www.faa.org.au/

The Friedreichs Ataxia Association of NSW Join our newsletter! Text HTML Email: Cancel Subscription Click here to download a membership form if you would like to recieve the newsletter by post. Applications from outside Australia will not be accepted. Sign our GuestBook Read our GuestBook GuestBook by TheGuestBook.com FROM THE PRESIDENT December 2002 The report by Pierre Rustin and that from the Royal Free and University College Medical School in London provide a succinct insight into the development of the FA research and insights into the disease over the past five years in addition to interesting insights into the possibilities of different types of therapies. Our own funded research at the University of New South Wales under the guidance of Professor Des Richardson is proceeding. The mice eventually arrived from France and we look forward to providing an update in our mid-2003 newsletter. It is probably the research being undertaken in New Zealand that has captured the most interest of readers. It is hoped that the first clinical trials of a drug to be developed at the University of Otago will take place in 2003. Laboratory experiments have shown that it could protect cells from oxidative damage. If successful, this would mean that degeneration could be halted in FA patients.

49. Friedreich's Ataxia It's not a disgrace to get knocked down it's a disgrace not to get up. Muhamad Ali. What is friedreich's ataxia ? friedreich's ataxia Research. http://www.geocities.com/andysannex/fa.html

Home Friedreich's  Ataxia Andy's Stuff Resume Links Guestbook ... Contact "Hope is a good thing......maybe the best of things." - Shawshank Redemption  What is Friedreich's Ataxia? What are the symptoms? How do you get FA? My Story ... FA Research 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. "It's not a disgrace to get knocked down...it's a disgrace not to get up." - Muhamad Ali 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. Usually the first symptoms are clumsiness or lack of coordination of the arms and/or legs, inability to run, and difficulty walking. Symptoms usually begin in childhood or early adolescence but sometimes they may appear later in adult-hood. As time goes on, this disease and its symptoms will progress until individuals MAY need a wheelchair for mobility. In 1996 the FA gene was located on chromosome 9 by researchers in Houston, Texas. Currently there is no real treatment or cure for this disease, but new things about FA are being discovered yearly and hope for the future is bright. Back to top What are the symptoms of FA ?

50. Pipet's Parlour: Friedreich's Ataxia friedreich's ataxia links Muscular Dystrophy Association of Australiafriedreich'sataxia Describes many features of the disease. 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!

51. Friedreich's Ataxia What is wrong with the frataxin gene in a person with friedreich's ataxia?The How do genetic defects cause friedreich's ataxia? Recent http://cajunheart.tripod.com/FAinDepth.html

Get Five DVDs for $.49 each. Join now. Tell me when this page is updated How are Hereditary Ataxias passed on in the family? Hereditary Ataxias are an inherited, or genetic, disorder. That means that it is caused by an abnormality of a single gene. To understand how the disease is passed on, it is important to know about genes and cells. Each gene is like a blueprint that tells the cell how to make a certain chemical or protein (like heart muscle proteins, or neurotransmitter, or eye color pigments). It is estimated that humans have about 100,000 genes inside each of their body cells; not all genes are active in all the cells (for instance, a gene for heart muscle protein doesn't need to be active in a brain cell). Each egg cell that a woman makes contains one copy of each of the 100,000 genes, and one copy of each of the father's genes is contained in his sperm cell, so that when a new person arises from the joining of an egg and a sperm cell, the new person has two copies of each gene (one from his father, and one from his mother). This genetic pattern is called "autosomal recessive inheritance", which means that 1) the disease is hereditary, 2) a double dose of the altered or non functioning gene is required to cause symptoms, 3) the disease can strike males and females with equal likelihood, and 4) that it is possible to "carry" the altered gene without having symptoms of the disease.

52. NINDS Friedreich's Ataxia Information Page More about NINDS friedreich's ataxia Information Page. Content for thispage. 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?

53. Friedreich's Ataxia Fact Sheet friedreich's ataxia fact sheet compiled by the National Institute of NeurologicalDisorders 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.

54. Friedreich's Ataxia friedreich's ataxia (FA), is an uncommon, slowly progressive disease of thenervous system, causing an inability to coordinate voluntary movements. http://www.disability.vic.gov.au/dsonline/dsarticles.nsf/pages/Friedreich's_atax

55. Idebenone Alzheimer's & Friedreich's Ataxia Research Website Idebenone Alzheimer's research, Idebenone friedreich's ataxia research,idebenone stroke rearch. Alzheimer's disease www.AlzheimersTreatments http://www.idebenone.info/

Alzheimer's disease www. Alzheimers Treatments .com ... Idebenone versus Tacrine in Patients with Alzheimer's disease Idebenone efficacy of idebenone in the treatment of Alzheimer's disease Idebenone Nerve Growth Factor synthesis stimulators in Alzheimer's disease Idebenone in the treatment of dementia of the Alzheimer type Idebenone cognitive enhancement therapy for Alzheimer's disease Idebenone protection from beta amyloid-induced oxidative stress Idebenone protection from beta amyloid-induced memory deficits and neurotoxicity Idebenone a study of 2 doses of idebenone in the treatment of Alzheimer's disease Idebenone a two year study of idebenone treatment for Alzheimer's disease Idebenone stimulates NGF synthesis in the treatment of Alzheimer's disease Idebenone animal model study of Nerve Growth Factor and Alzheimer's disease Leber's hereditary optic neuropathy (LHON) Idebenone does it shorten the time to visual recovery in Leber's hereditary optic neuropathy? Idebenone improvement in a patient with Leber's hereditary optic neuropathy LHON Friedreich's ataxia Idebenone Frataxin: Its role in iron metabolism and Friedreich's ataxia Idebenone notable cerebellar improvement in early stage Friedreich's ataxia Idebenone is effective at controlling cardiac hypertrophy in Friedreich's ataxia Idebenone improvement in mitochondrial cardiomyopathy with idebenone Idebenone effect of idebenone on cardiomyopathy in Friedreich's ataxia Idebenone Friedreich's ataxia and frataxin Idebenone and reduced

56. Idebenone On Cardiomyopathy In Friedreich's Ataxia Effect of idebenone on cardiomyopathy in friedreich's ataxia a preliminarystudy. Rustin P, von KleistRetzow JC, Chantrel-Groussard http://www.idebenone.info/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).

57. Health Information Resource Database: Friedreich's Ataxia Research Alliance friedreich's ataxia Research Alliance. Contact Information. 2001 Jefferson DavisHighway Suite 209 Arlington, VA 22202. 703413-4468 (Voice) 703-413-4467 (FAX). http://www.health.gov/nhic/NHICScripts/Entry.cfm?HRCode=HR3288

58. MedWebPlus Web Site ID 26112 A free service to help you find health sciences information quickly and easily.friedreich's ataxia Research Alliance (FARA). http//www.frda.org/ http://www.medwebplus.com/obj/26112

Main About MWP Contribute to MWP Contact Us A service of Flexis, Inc. Welcome to MedWebPlus 2.3! A free service to help you find health sciences information quickly and easily. Friedreich's Ataxia Research Alliance (FARA) http://www.frda.org/ Uptime grade: A Usage grade: Popularity: N/A Location: North America United States Virginia Arlington Subjects: All Diseases Diseases and Conditions Neurodegenerative Diseases Social Support ... Privacy statement Powered by y-Base

59. InteliHealth: Friedreich's Ataxia referenced in an AZ format. friedreich's ataxia. Health A to Z, Reviewedby the Faculty of Harvard Medical School friedreich's ataxia http://www.intelihealth.com/IH/ihtIH/WSIHW000/9339/11087.html

Entire Site Diseases Conditions Healthy Lifestyle InteliTools Your Health IH Catalog Dental chrome_imgPreload('gifChr_mid_but_home_mo_1','http://img.intelihealth.com/i/C/Chr_mid_but_home-o.gif'); chrome_imgPreload('gifChr_mid_but_shop_mo_2','http://img.intelihealth.com/i/C/Chr_mid_but_shop-o.gif'); chrome_imgPreload('gifChr_mid_but_dental_mo_3','http://img.intelihealth.com/i/C/Chr_mid_but_dental-o.gif'); chrome_imgPreload('gifChr_mid_but_drug_mo_4','http://img.intelihealth.com/i/C/Chr_mid_but_drug-o.gif'); chrome_imgPreload('gifChr_mid_but_askexpert_mo_5','http://img.intelihealth.com/i/C/Chr_mid_but_askexpert-o.gif'); chrome_imgPreload('gifChr_mid_but_medical_mo_6','http://img.intelihealth.com/i/C/Chr_mid_but_medical-o.gif'); chrome_imgPreload('gifChr_mid_but_chats_mo_7','http://img.intelihealth.com/i/C/Chr_mid_but_chats-o.gif'); chrome_imgPreload('gifchr_mid_but_news_mo_8','http://img.intelihealth.com/i/c/chr_mid_but_news-o.gif'); chrome_imgPreload('gifChr_mid_but_privacy_mo_9','http://img.intelihealth.com/i/C/Chr_mid_but_privacy-o.gif'); Advertisement Friedreich's Ataxia What Is It?

60. InteliHealth: Ataxia Health A to Z, Reviewed by the Faculty of HarvardMedical School friedreich's ataxia http://www.intelihealth.com/IH/ihtIH/WSIHW000/9339/9497.html

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