61. NINDS Friedreich's Ataxia Information Page More about friedreich's ataxia, Studies with patients, Research literature, Pressreleases, NINDS friedreich's ataxia Information Page Reviewed 0801-2000 http://www.medhelp.org/NIHlib/GF-283.html

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about Friedreich's Ataxia Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health NINDS Friedreich's Ataxia Information Page Reviewed 08-01-2000 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 What is Friedreich's Ataxia? Is there any treatment? There is currently no effective cure or treatment for Friedreich's ataxia. However, many of the symptoms and accompanying complications can be treated to help patients maintain optimal functioning as long as possible. Diabetes and heart problems can be treated with medications. Orthopedic problems such as foot deformities and scoliosis can be treated with braces or surgery. Physical therapy may prolong use of the arms and legs. What is the prognosis?

62. FRIEDREICH'S ATAXIA friedreich'S ataxia An autosomal recessive inherited disorder that leads to theprogressive dysfunction of the cerebellum, spinal cord, and peripheral nerves http://www.medhelp.org/glossary2/new/GLS_2122.HTM

FRIEDREICH'S ATAXIA - An autosomal recessive inherited disorder that leads to the progressive dysfunction of the cerebellum , spinal cord, and peripheral nerves. Symptoms usually begin in childhood before puberty and consist of an unsteady gait ( ataxia ), slurred speech ( dysarthria ), and jerky eye movements ( nystagmus ). Other findings include kyphoscoliosis, hammer toe , heart disease, and high arches. Congestive heart failure is a common complication. There is no known treatment and prognosis is poor. Med Help Home Search Ask the Doctor Patient Network The medical glossary has been made possible by a generous donation from:

63. Friedreich's Ataxia friedreich's ataxia. Definition. friedreich's ataxia (FA) is an inherited, progressivenervous system disorder causing loss of balance and coordination. http://www.healthatoz.com/healthatoz/Atoz/ency/friedreichs_ataxia.html

Encyclopedia Index F Home Encyclopedia Encyclopedia Index F Friedreich's ataxia 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.

64. Nemours.org - Friedreich's Ataxia - Case Study Nemours Case Studies Caroline friedreich's ataxia. Caroline has friedreich'sataxia, 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.

65. CMGS-Friedreich's Ataxia-Genotype-Phenotype Correlations/21.10.97 McQuaid. friedreich's ataxia. FA was propensity to expand. GenotypePhenotypeCorrelations in friedreich's ataxia. Phenotype of the Disease. http://www.ich.ucl.ac.uk/cmgs/frdagtp.htm

Types of Mutation with Respect to Genotype-Phenotype Correlations Trinucleotide Repeats - Friedreich's Ataxia (FA) MRCPath Self Help Course 21/10/97 Shirley McQuaid Friedreich's Ataxia FA was featured as a presentation and handout (by SA Ellard) in the second session ('Dynamic Mutations and Repetitive DNA') of the MRCPath Self Help Group (23/09/97). Therefore, this handout will not repeat that information but try to address the type of mutation found in FA with respect to genotype-phenotype correlations. Summary of the location and type of triplet repeats in humans (adapted from Warren, 1996). (Fictitious representation of a human gene, with three exons and two introns). Prior to the discovery of the causative mutation in FA, similarities in the trinucleotide expansion repeat diseases (shown above) had led to many generalisations, with these similarities viewed as mechanistically significant points (e.g. high GC content relevant to their inherent instability; dominant inheritance with genetic anticipation initiated searches for other disorders with these attributes (notable finds = SCA6 and SCA7). Table of dissimilarities of FA and other dynamic mutations Mostly gain (or change) of function Expansions ~100% causative of disease Similarities obviously include the fact that they are all trinucleotide repeats, irrespective of their sequence (as opposed to di- or tetra-), all are neurological diseases (frequently ataxias) and all are characterised and distinguished by their propensity to expand.

66. CMGS-FRIEDREICH’S ATAXIA/17.12.98 friedreich'S ataxia. FRDA is ataxias). IDENTIFICATION OF THE friedreich'Sataxia GENE. Mapped to 9q13q21 by linkage analysis. The http://www.ich.ucl.ac.uk/cmgs/fried98.htm

FRIEDREICH'S ATAXIA FRDA is the most common hereditary ataxia with an incidence of 1 in 50,000 and deduced carrier frequency of 1 in 120 in European populations (it is rare in Finland, among black Africans and non existent in Japan) ONSET Usually around puberty but with wide variations (more variable between, rather than within families). Initial classification, which discounted patients with onset after 25 years, has since been broadened. Gait instability (65%) or generalized clumsiness (25%) are the usual initial symptoms. Most patients are confined to a wheelchair by their late twenties and there is no treatment to slow progression of the disease. SYMPTOMS NEUROPATHOLOGY Loss of primary sensory neurons of the dorsal root ganglia (DRG) is an early and invariable finding with those fibres originating more caudally being more severely affected. Deterioration of the sensory posterior columns and spinocerebellar tracts and corticospinal motor tracts of the spinal cord is also observed (therefore, the sensory systems providing information to the brain and cerebellum about the position and speed of body segments, particularly the lower limbs, are severely compromised in FRDA). Although most motor neurons are well preserved the corticospinal motor tracts are atropied explaining the pyramidal signs. The cerebellar cortex shows only mild loss of Purkinje cells late in the disease course ( in contrast with other inherited degenerative ataxias). IDENTIFICATION OF THE FRIEDREICH'S ATAXIA GENE

67. Generations: Friedreich's Ataxia (FRDA) Is A Disease Resulting From Decreased Ex Oxidative Stress in friedreich's ataxia Mechanisms and PotentialTherapy. by. Alice Wong, PhD. University of California Davis, CA. http://www.ataxia.org/generations/2000/2000fall/research/Wong.htm

Oxidative Stress in Friedreich's Ataxia: Mechanisms and Potential Therapy by Alice Wong, PhD University of California Davis, CA The following is an update on research funded by NAF in 1999. Friedreich's ataxia (FRDA) is a disease resulting from decreased expression of the mitochondrial protein, frataxin. Results from yeast studies support a hypothesis that FRDA is a disease of mitochondrial oxidative stress, and this is further supported by more recent observations consistent with the view that frataxin may serve as an iron storage protein, that binds up potentially toxic iron. Free (unbound) iron is a transition metal, i.e. it "likes" to give up and receive electrons. Because of its ability to give up and receive electrons, iron can interact with hydrogen peroxide present in biological material to produce toxic oxygen radicals. Oxygen radicals are known to cause damage to DNA and proteins. Because yeast studies showed that cells died when given increasing doses of hydrogen peroxide and iron, we wanted to examine whether skin or blood cells from FRDA patients were more sensitive to hydrogen peroxide or iron. We also examined the sensitivity of blood cells from FRDA patients to other transition metals besides iron. These other transition metals also "like" to give and receive electrons. If the function of frataxin had undergone an evolutionary change from an iron storage protein to a mitochondrial storage protein for some other transition metal, then perhaps FRDA cells would be especially sensitive to being overloaded with that metal. We observed that blood cells from FRDA patients were more sensitive to iron and manganese ions than those from normal individuals. FRDA cells may have increased sensitivity to manganese because of its multiple atomic similarities with iron. However, FRDA cells were no more sensitive to zinc, cobalt, and copper than control cells. This work will be reported later this year in the journal, Antioxidants and Redox Signaling, 2000, September issue.

68. Disorder Information - What Is Friedreich's Ataxia? What is friedreich's ataxia? friedreich's ataxia is a slowly progressive disorderof the nervous system and muscles. What causes friedreich's ataxia? http://www.mdac.ca/english/disorder-info/disorder-info-10.htm

What is Friedreich's ataxia? Friedreich's ataxia is a slowly progressive disorder of the nervous system and muscles. The disorder, named for the physician who first identified it in 1863, results in an inability to coordinate voluntary muscle movements (ataxia). This condition is caused by the premature death of nerve cells that are responsible for the control of balance and coordination. What is the age of onset? Symptoms of Friedreich's ataxia, in most cases, appear between five and twenty years of age, but are usually seen before puberty. There are, however, people who are first affected by FA as adults. What are the primary symptoms? In this disorder, the ataxia affects upper and lower limbs and the head and neck. There is also a partial loss of the sensations of touch and pressure in arms and legs. Weakness, especially in the lower limbs, unsteadiness in standing and an uneven gait are usually among the first symptoms. As the disorder progresses, other symptoms may appear. They may include generalized and more severe weakness and poor coordination in the upper limbs, often making writing difficult. Difficulty speaking and enunciating words (dysarthria) and irregularities in voice pitch and loudness develop with the loss of muscle control in relation to speech. Rapid, involuntary eye movements (nystigmus) develop as eye muscles weaken. Some people also experience numbness of the hands or a decrease in visual or auditory acuity because of sensory nerve involvement.

69. GLUT 1 Deficient Epilepsy, Friedreich's Ataxia, Leprechaunism National Institute on Alcohol Abuse and Alcoholism (NIAAA) and the Office of RareDiseases GLUT 1 Deficient Epilepsy, friedreich's ataxia, Leprechaunism. http://rarediseases.info.nih.gov/news-reports/workshops/glut120000503.html

National Institute on Alcohol Abuse and Alcoholism (NIAAA) and the Office of Rare Diseases GLUT 1 Deficient Epilepsy, Friedreich's Ataxia, Leprechaunism Table of Contents Agenda Summary Speakers GLUT 1 Deficient Epilepsy, Friedreich's Ataxia, Leprechaunism Agenda Focus of the Meeting Ketosis, the normal response to fasting, has been used in the treatment of refractory epilepsy for 50 years without a clear understanding of its mechanism of action. Recent developments suggest that ketone bodies: provide alternative sources of acetyl CoA and metabolites of the TCA cycle; reduce mitochondrial [NAD+]/[NADH] and cytosolic [NADP+]/[NADPH], oxidize [Q]/[QH2], increase G of ATP and with that the extent of ionic gradients, and increase metabolic efficiency; and may be produced endogenously or microbiologically as an alternative energy source. This meeting will address the possibilities that mild ketosis may provide treatments for several refractory disease states resulting from substrate deficiency or free radical damage. Wednesday, May 3

70. FRIEDREICH'S ATAXIA friedreich'S ataxia. He's a real nowhere man Sitting in his nowhere landMaking all his nowhere plans for nobody. What is friedreich's ataxia? http://pages.prodigy.net/maybnot/_wsn/page2.html

FRIEDREICH'S ATAXIA He's a real nowhere man Sitting in his nowhere land Making all his nowhere plans for nobody. Nowhere Man By John Lennon and Paul McCartney All the best freaks are here, all the best freaks are here Please stop staring at me Freaks/Marillion Lyrics: Derick Dick What is Friedreich's ataxia? Friedreich's ataxia was the first form of hereditary ataxia to be distinguished from other forms of ataxia. It is named after the German doctor, Nikolaus Friedreich, who first described it in 1863. What are the major symptoms of Friedreich's ataxia? The symptoms of Friedreich's ataxia usually become noticeable during the early teenage years, although in occasional individuals the diagnosis has been made as early as age 2 or as late as age 25. The first symptoms are usually difficulty with balance (dysequilibrium), impaired coordination of the legs or arms (ataxia), and thick or slurred speech (dysarthria). As time goes on, individuals with Friedreich's ataxia often notice worsening of their coordination and speech, difficulty knowing where their feet or hands are in space (impaired position sense), and weakness and loss of muscle bulk in the legs and hands. Curvature of the spine (kyphoscoliosis) and high arches in the feet (pes cavus) develop, and may require treatment. Enlargement of the heart, irregular heartbeat, or other symptoms of heart trouble (cardiomyopathy) occur in most individuals with Friedreich's ataxia; the heart trouble may be very mild, but in most cases it can be severe.

71. Fundraiser-Friedreich's Ataxia Fundraiserfriedreich's ataxia. This Miracle! Proceeds from the sale ofthis cookbook will benefit research for friedreich's ataxia.***. http://neuro-www.mgh.harvard.edu/neurowebforum/NeuralgiaArticles/12.30.969.08PMF

Fundraiser-Friedreich's ataxia This article submitted by Sally Smith on 12/30/96. Author's Email: sqsmith@surfsouth.com Seek A Miracle, MDA, is a nonprofit organization that was established through the MDA by Mrs. Rochelle Litke after her 18-year old daughter, Samantha, was diagnosed with Friedreich's Ataxia. Recently, Bruce and Cindy Olson of Seek A Miracle - Minnesota, and their family, organized a cookbook, "Cooking For a Cause," to raise money for FA research. I received my copy a couple of weeks ago and was intrigued by the many recipes from family and friends (nationwide) of FA patients. My mom contributed several recipes, including Miracle cookies which are eggless (and low fat) pecan chocolate - chip cookies, and Julie Birkholz (sister of Cindy Olson) contributed her recipe, "Cheesy Meatballs," which won first prize in the 1981 Minnesota State Fair! I even discovered recipes from The Honorable and Mrs. Terry Branstad, Governor of Iowa, and Dr. Giovanna Spinella (NINDS/NIH), and Cathy Moriarty, owner of Mulberry Street, Beverly Hills, CA. The cookbook contains sections of recipes from children with

72. Friedreich's Ataxia | Principal Health News friedreich's ataxia. Robinson, Richard. friedreich's ataxia (FA) is an inherited,progressive nervous system disorder causing loss of balance and coordination. http://www.principalhealthnews.com/topic/topic100586846

About This Site Registration FAQ Contact Us ... Site Awards You are here: Home Health A to Z Friedreich's Ataxia Friedreich's Ataxia Robinson, Richard Below: 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.

73. Friedreich's Ataxia | Ahealthyme.com You are here Home Health A to Z friedreich's ataxia. friedreich'sataxia. friedreich's ataxia Robinson, Richard. http://www.ahealthyme.com/topic/topic100586846

Search AHealthyMe! Personalize AHealthyMe! Sign up for our Newsletter! You are here: Home Health A to Z Friedreich's Ataxia Robinson, Richard Below: 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.

74. MedFriendly.com: Friedreich's Ataxia provides an easy to understand definition for the medical term, friedreich's ataxia.Click here to visit our sponsor TM, friedreich's ataxia MedFriendly.com TM http://www.medfriendly.com/friedreichsataxia.html

TM Friedreich's ataxia MedFriendly.com TM TM A B C D ... Z Friedreich's ataxia means the same thing as hereditary spinal ataxia. Friedreich's ataxia was named after Nickolaus Friedreich, a German physician who was born in 1825. Friedreich's ataxia is also known as heredotaxia. Back to main page Contact MedFriendly.com

75. Idebenone And Reduced Cardiac Hypertrophy In Friedreich's Ataxia Idebenone and reduced cardiac hypertrophy in friedreich's ataxia. ABSTRACT. BACKGROUNDfriedreich'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.

76. Friedreich's Ataxia (www.whonamedit.com) friedreich's ataxia An inheritable, chronic and progressive degenerative diseasewith sclerosis of the dorsal and lateral columns of the spinal cord. http://www.whonamedit.com/synd.cfm/1406.html

Home List categories Eponyms A-Z Biographies by country ... Contact Friedreich's ataxia Also known as: Friedreich’s disease Synonyms: Spinocerebellar heredotaxia. Associated persons: Nikolaus Friedreich Description: An inheritable, chronic and progressive degenerative disease with sclerosis of the dorsal and lateral columns of the spinal cord. Accompanied by ataxia, speech impairment, lateral curvature of the spinal column, and peculiar swaying and irregular movements, with paralysis of the muscles, especially of the lower extremities. A variety of skeletal deformities (Friedreich foot) may be present and cardiac involvement (30-50%) represents a potentially lethal complication. Up to 90% have ECG. anomalies relating to associated cardiomyopathy. Onset occurs in childhood or early adolescence, rarely after the age of 20. Inheritance is usually autosomal recessive or dominant, but sporadic cases have also been observed. Bibliography: N. Friedreich: Über degenerative Atrophie der spinalen Hinterstränge. [Virchows] Archiv für pathologische Anatomie und Physiologie und für klinische Medizin, Berlin, 1863, 26: 391-419, 433-459. Also volume 27, pp 1-26; and 1867, volume 68, pp 145-245.

77. Friedreich's Ataxia friedreich's ataxia. A friend of Kim's, whom she knew since she was eightyears old, died from a hereditary disease called friedreich's ataxia. http://www.kimwilde.com/kwe/friedreich.htm

var i=1; Kim Wilde Encyclopedia F Friedreich's Ataxia A friend of Kim's, whom she knew since she was eight years old, died from a hereditary disease called Friedreich's Ataxia. This is a rare, inherited disease of the central nervous system first identified in the early 1860's by Nikolaus Friedreich of Heidelberg, Germany. Symptoms usually begin in childhood or youth, usually with unsteady walking or general clumsiness. Both arms and legs may become weak. Tasks requiring good co-ordination may become difficult. Writing may become impossible, and in time speech may become distorted and faint, and swallowing difficult. People with Friedreich's ataxia may also experience curvature of the spine, diabetes, problems with vision and hearing, and with the heart. They usually need a wheelchair about 15 years after the symptoms start. Friedreich's ataxia is caused when a person inherits a defective gene from both parents. This is called a recessive inheritance pattern. If only one parent contributes a defective gene, the child becomes a "carrier" of Friedreich's ataxia but never develops the disorder. Carriers often do not know they are carriers until one of their children develops Friedreich's ataxia. There are tests which will show if someone has inherited the defective gene. The normal gene expresses a protein called frataxin. The effect of the abnormality is to reduce the amount of that protein to a third or less of the levels found in unaffected people. Frataxin appears to be involved in energy production in the mitochondria, tiny bodies within each cell. They produce the energy that the cells need to function and, as a kind of by-product, free radicals. It seems that free radicals and/or excess iron may damage nerve and muscle cells in people with Friedreich's ataxia.

78. FRIEDREICH'S ATAXIA (ANALYSIS OF THE FRDA GENE) friedreich's ataxia (analysis of the FRDA gene). Other Information friedreich'sataxia is the most common inherited ataxia with an incidence of 1 in 50,000. http://www.exeterhospitals.co.uk/pathology/exepath/indexf/fried.htm

Friedreich's ataxia (analysis of the FRDA gene) Sample type : EDTA Minimum sample volume : 2 x 7.5 ml Reporting time : 1 - 8 weeks Sample labelling : The sample should indicate - Date of birth Hospital number or genetics number Date Signature of the person collecting the specimen Other Information : Friedreich's ataxia is the most common inherited ataxia with an incidence of 1 in 50,000. It has a recessive mode of inheritance with a carrier frequency estimated at 1 in 120. More than 95% of affected patients are homozygous for a (GAA)n expansion within intron 1 of the FRDA gene which encodes the frataxin protein. There are rare compound heterozygotes with an expression on one allele and a point mutation in the other. Analysis of the (GAA)n repeat within the FRDA gene is carried out by PCR/agarose gel electrophoresis and sizing of normal range alleles using an ABI PRISM 377 TM DNA Sequencer. Department responsible for analysis Molecular genetics (Laboratory contact Dr. S. Ellard) Help Index

79. Friedreich's Ataxia BACK TO FACT SHEETS INDEX. friedreich'S ataxia. He wrote a series of articlesabout nine patients with friedreich's ataxia between 1863 and 1877. http://www.mdansw.org/FA.htm

BACK TO FACT SHEETS INDEX FRIEDREICH'S ATAXIA Nicholaus Friedreich was Professor of Medicine in Heidelberg, Germany, when he first described the disease which bears his name. He wrote a series of articles about nine patients with Friedreich's Ataxia between 1863 and 1877. By the end of the nineteenth century a considerable number of similar patients had been diagnosed as having the same condition and the disorder was first discussed at the Medical Society of London in 1880. What is Friedreich's Ataxia? At what age do signs of Friedreich's Ataxia appear? Does the rate of progression vary? How is a diagnosis of Friedreich's Ataxia established? ... The Muscular Dystrophy Association's Purpose and Programme What is Friedreich's Ataxia? Back to Top At what age do signs of Friedreich's Ataxia appear? The age at which people develop FA varies considerably. Symptoms usually start between the ages of 4 and 16. By their early twenties most affected people may need a wheelchair, and by their mid forties nearly all are unable to walk. Does the rate of progression vary?

80. Friedreich's Ataxia Research Alliance friedreich's ataxia Research Alliance. 2001 Jefferson Davis Highway 209 Arlington,VA 22202 Conditions friedreich's ataxia. Contact Name Ronald Bartek http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Frie

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