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
Extractions: It's your source for information and news about FA and will be updated regularly. 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. 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.
Matthew Law A personal web site about a life with friedreich's ataxia. http://www.geocities.com/TheTropics/Beach/4126
Extractions: 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
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
Extractions: 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.
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/
Extractions: 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 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;
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
Extractions: 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.
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
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
Extractions: 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.
The Freidriechs Ataxia Association Of NSW Readers will notice very quickly that it points up how far the researchinto friedreichs ataxia has come in the past six years. http://www.faa.org.au/
Extractions: 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.
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
Extractions: 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 ?
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
Extractions: 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
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
Extractions: 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.
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.
Extractions: Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Home About NINDS Disorders-you are in this section ... Find People 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 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 NINDS Friedreich's Ataxia Information Page
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
Extractions: Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Home About NINDS Disorders-you are in this section ... Find People 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 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 Get Web page suited for printing Request free mailed brochure 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? 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.
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
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
Extractions: 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).
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
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
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