21. Friedreich Ataxia Ataxia is a charity involved in dealing with Friedreich s ataxia and othercerebrellar ataxias and diseases of the nervous system. http://omni.ac.uk/browse/mesh/D005621.html

low graphics Friedreich Ataxia other: Mitochondrial Myopathies Ataxia Ataxia is a charity involved in dealing with Friedreich's ataxia and other cerebrellar ataxias and diseases of the nervous system. The group was set up by carers of people with ataxia as well as health professionals. The Web site explains what cerebrallar ataxia is (ataxia means unsteadiness and clumsiness), provides information on research, membership information and a chat forum. Organizations, Nonprofit Friedreich Ataxia Charities Ataxia Last modified: 02 Sep 2005

22. CCR: NIGMS HGCR: Friedreich Ataxia Collection friedreich ataxia (FRDA OMIM 229300) is a slowly progressive ataxia that isinherited in an autosomal recessive manner. Ninetysix percent of affected http://locus.umdnj.edu/nigms/phenotype/frda.html

CCR NIGMS NIA NINDS ... LMS Quickfind... Animals Characterized Mutations Cell Types CEPH Families Chromosome Aberrations Controls Dysmorphology Gene Pathways HapMap Resource Human Variation Hybrids Inherited Disorders Extended Families Phenotypic Overviews Polymorphism Resource SNP500 Resource Special Collections Search NIGMS Catalog Search Help Quickfind... Animals Char. Mutations Cell Types CEPH Families Chrom. Aberrations Controls Dysmorphology Gene Pathways HapMap Resource Human Variation Hybrids Inherited Disorders Extended Families Phenotypic Overviews Polymorphism Res. SNP500 Resource Special Collections Repository Overview About NIGMS Diseases and Gene Variants Controls Search ... Site Map Friedreich Ataxia Collection Friedreich ataxia (FRDA OMIM # ) is a slowly progressive ataxia that is inherited in an autosomal recessive manner. Ninety-six percent of affected individuals have a homozygous GAA triplet-repeat expansion (between 200 and 900 copies, normal is 7-20 copies) in the first intron of the FRDA gene (OMIM # ) while the remaining four percent of affected individuals are compound heterozygotes with a GAA expansion in one allele and another gene mutation in the other allele. Our collection of FRDA cell lines came from fifty individuals, twenty-six of whom are affected with FRDA. There are sixteen affected females and ten affected males ranging in age from thirteen to fifty-three years. The twenty-four unaffected individuals have relatives that are affected with FRDA. Of the twenty-six affected individuals, twenty-five have known GAA repeat sizes and all are homozygous for the GAA expansion. Of the twenty-four unaffected individuals, there are twenty-two known carriers with documented GAA repeat sizes.

23. Friedreich Ataxia Research Association as Young Australians Fighting friedreich ataxia and the friedreich ataxia of the significant research in the field of friedreich ataxia is reflected http://www.fara.org.au/

Your browser does not support script Sign up for more news from FARA Email Address: Download the latest newsletter in PDF format: August 2004 February 2005 FROM THE PRESIDENT January 2005 In its brief period as a national organization we have been able to establish FARA as a viable and relevant organization. The need for a strong, national entity is now more important than ever, given the need to gain access to the various funding authorities and government outlets in the face of greater demands from organizations similar to our own. The recent tsunami disaster, while resulting in a magnificent response from the Australian people, makes it even more difficult for small local groups such as ours to tap into the generosity of people. There is a limit on how many charities people and corporations are able to donate to. Peter Rousch AM Emeritus Professor President

24. Core Curriculum - POSNA Describe early symptomatology and signs of friedreich ataxia. Describe theorthopaedic problems associated with friedreich ataxia. Discussion http://www.posna.org/index?service=page/coreCurriculum&article=friedreichAtaxia.

25. CJNS - Malaysian Siblings With Friedreich Ataxia And Chorea: A Novel Deletion In Malaysian Siblings with friedreich ataxia and Chorea A Novel Deletion in theFrataxin Gene. Siân D. Spacey, Blazej I. Szczygielski, Sean P. Young, http://www.cjns.org/31augtoc/malaysian.html

Abstract Close Window Malaysian Siblings with Friedreich Ataxia and Chorea: A Novel Deletion in the Frataxin Gene Abstract: Background: Friedrich ataxia (FRDA1) is most often the result of a homozygous GAA repeat expansion in the first intron of the frataxin gene (FRDA gene). This condition is seen in individuals of European, North African, Middle Eastern and Indian descent and has not been reported in Southeast Asian populations. Approximately 4% of FRDA1 patients are compound heterozygotes. These patients have a GAA expansion on one allele and a point mutation on the other and have been reported to have an atypical phenotype. Objective: To describe a novel dinucleotide deletion in the FRDA gene in two Malaysian siblings with FRDA1. Setting: Tertiary referral university hospital setting. Patients and Methods: A previously healthy 10-year-old Malaysian boy, presented with fever, lethargy, headaches, dysarthria, dysphagia, vertigo and ataxia which developed over a one week period. His neurological exam revealed evidence of dysarthria and ataxia, mild generalized weakness and choreoform movements of the tongue and hands. His reflexes were absent and Babinski sign was present bilaterally. A nine-year-old sister was found to have mild ataxia but was otherwise neurologically intact.

26. N.C.M.G. Ireland | Friedreich Ataxia Service Description. The National Centre for Medical Genetics provides a comprehensive service forall patients and families in the Republic of Ireland affected by or at risk of http://www.genetics.ie/molecular/frda/

@import "../../css/layout.css"; home molecular genetics Friedreich Ataxia National Centre for Medical Genetics Friedreich Ataxia Background and Standard Service Information Friedreich Ataxia ( FRDA ) is the most common hereditary ataxia with an estimated prevalence of 1 in 50,000. The carrier frequency for FRDA in the general population is estimated to be 1 in 120. FRDA is characterised by progressive ataxia, areflexia of the legs, pyramidal weakness and impaired sense of vibration. Cardiomyopathy and diabetes are also seen with variable penetrance. FRDA is an autosomal recessive disorder and the majority of patients (96%) have a homozygous expansion mutation of a (GAA)n repeat within intron 1 of the frataxin gene. The normal range is 9-33 repeats and the size range associated with disease is 66 to 1,700 repeats, but the majority of pathogenic alleles contain 600-1,200 repeats. A number of point mutations have been reported in patients who are heterozygous for the expansion. To date, no FRDA patients without an expansion have been reported. Essential referral information In addition to supplying standard patient and referral information, the following should be clearly indicated:

27. Friedreich Ataxia friedreich ataxia is the most common cause of inherited ataxia in Caucasian friedreich ataxia is primarily caused by spinocerebellar and sensory neuron http://www.charite.de/ch/medgen/eumedis/neurogenetics05/friedreich-ataxia.html

Home Up Up topic About Clinical and genetic aspect of autosomal dominant cerebellar ataxia type II (ADCA II) Autosomal dominant cerebellar ataxias Physiopathological aspects of spinocerebellar ataxias ... Clinical aspects of the autosomal recessive cerebellar ataxias. Friedreich ataxia Clinical and genetic aspect of ataxia with vitamin E deficiency Classification of Charcot-Marie-Tooth Neuropathy (CMT) and genetic aspects of autosomal recessive demyelinating forms Genetic Aspects of Autosomal Recessive Axonal form of Charcot-Marie-Thooth Disease (ARCMT2) Dominant forms of Charcot-Marie-Tooth diseases ... Glycogen Storage Myopathies: from clinical features to treatment Font size: Friedreich ataxia Michel Koenig Table of Contents Pathology Electrophysiology Clinical description Mutations ... References Friedreich ataxia is the most common cause of inherited ataxia in Caucasian populations. It affects the spinal cord and the heart, is of autosomal recessive inheritance and is due to the partial deficiency of a mitochondrial protein, frataxin, thought to be involved in the biogenesis of iron-sulphur clusters. The major mutation is a trinucleotide repeat expansion in intron 1 of the frataxin gene, that causes reduced synthesis of the corresponding transcript. Pathology Electrophysiology The sensory neuropathy is defined by axonal degeneration (as opposed to a demyelinating neuropathy), with moderately reduced conduction velocities but important reduction of the amplitude of the potentials, prior to complete axonal loss. There is no or very mild motor neuropathy. Reductions of the central sensory action potentials confirm the involvement of the posterior columns of the spinal cord.

28. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Search results for Friedreich s Ataxia ALLFIELDS are shown below. Conditionfriedreich ataxia. 2. No longer recruiting, Phase 1 Trial of Idebenone http://www.clinicaltrials.gov/search/term=Friedreich's Ataxia

Home Search Browse Resources ... About Search results for Friedreich's Ataxia [ALL-FIELDS] are shown below. Include trials that are no longer recruiting patients. 3 studies were found. Completed Transitional Life Events in Patients with Friedreich's Ataxia: Implications for Genetic Counseling Condition: Friedreich Ataxia No longer recruiting Phase 1 Trial of Idebenone to Treat Patients with Friedreich's Ataxia Condition: Friedreich Ataxia No longer recruiting Safety Study of Idebenone to Treat Friedreich's Ataxia Condition: Friedreich Ataxia U.S. National Library of Medicine Contact NLM Customer Service National Institutes of Health Privacy ... Freedom of Information Act

29. MedlinePlus Medical Encyclopedia: Friedreich's Ataxia Friedreich s ataxia is an autosomal recessive genetic disorder, Individualswithout friedreich ataxia have anywhere from 8 to 30 copies of this GAA http://www.nlm.nih.gov/medlineplus/ency/article/001411.htm

@import url(/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Friedreich's ataxia Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Central nervous system Alternative names Return to top Spinocerebellar degeneration Definition Return to top Friedreich's ataxia (FRDA) is a rare inherited disease. The two main features of this disorder are: progressive loss of voluntary muscular coordination (ataxia) heart enlargement Diagnosis is usually made between ages 8 and 15, and for most by age 25. Causes, incidence, and risk factors Return to top Friedreich's ataxia is an autosomal recessive genetic disorder, meaning the affected individual must inherit two altered genes - one from the mother and one from the father. A gene called Frataxin FXN ), located on chromosome 9, is involved. Changes in the gene result in many extra copies of a DNA segment called a trinucleotide repeat (GAA). Individuals without Friedreich ataxia have anywhere from 8 to 30 copies of this GAA segment. Individuals with FRDA have as many as 1,000 copies. The more copies of GAA the individual has, the earlier the onset of the disease and the faster it progresses. Incidence is 1 in 22,000-29,000 and risk factors include family history.

30. Arch Neurol -- Abstract: Molecular Pathogenesis Of Friedreich Ataxia, October 19 friedreich ataxia, the most common type of inherited ataxia, is itself caused inmost Replication Stalling at Friedreich s Ataxia (GAA)n Repeats In Vivo http://archneur.ama-assn.org/cgi/content/abstract/56/10/1201

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 56 No. 10, October 1999 Featured Link E-mail Alerts Neurological Review Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Related articles in this issue Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Pandolfo M Articles that cite this article ISI Web of Science (40) Contact me when this article is cited Topic Collections Neurology, Other Topic Collection Alerts Molecular Pathogenesis of Friedreich Ataxia Massimo Pandolfo, MD Arch Neurol. Friedreich ataxia, the most common type of inherited ataxia, is itself caused in most cases by a large expansion of an intronic GAA repeat, resulting in decreased expression of the target frataxin gene. The autosomal recessive inheritance of the disease gives this triplet repeat mutation some unique features of natural history and evolution. Frataxin is a mitochondrial protein that

31. OB-GYN-L Messages For January, 2000: FRIEDREICH ATAXIA friedreich ataxia. From Geffrey Klein, MD (gklein@icsi.net) Fri Jan 21 1215482000. Messages sorted by date thread subject author http://forums.obgyn.net/ob-gyn-l/OBGYNL.0001/0447.html

-VISIT OUR OTHER FORUMS- OB-GYN-L Ultrasound Ultrasound History Physicians-in-Training Tech Talk OBSTET-L (portuguese) OBGIN-L (spanish) Nursing FRIEDREICH ATAXIA From: Geffrey Klein, MD gklein@icsi.net Fri Jan 21 12:15:48 2000 Messages sorted by: [ date ] [ thread ] [ subject ] [ author ] Next message: DoctorJoe@aol.com: "Fwd: ACS NewsScope" Previous message: Geffrey Klein, MD: "Re: Happy New Year" Next in thread: Brickster0@aol.com: "Re: FRIEDREICH ATAXIA" Maybe reply: Brickster0@aol.com: "Re: FRIEDREICH ATAXIA" Reply: Luis Sanchez-Ramos: "Re: Labor induction in fetal death and placenta praevia" Maybe reply: Barborza@aol.com: "Re: FRIEDREICH ATAXIA" Is there a test that can be done on a preconception patient (G0) with a family history of Friedreich ataxia? tia geffrey.klein@obgyn.net 200 Medical Center Blvd Suite 103 Webster, TX 77598 (281) 332 6723 http://www.geffreyklein.com Next message: DoctorJoe@aol.com: "Fwd: ACS NewsScope" Previous message: Geffrey Klein, MD: "Re: Happy New Year" Next in thread: Brickster0@aol.com: "Re: FRIEDREICH ATAXIA" Maybe reply: Brickster0@aol.com: "Re: FRIEDREICH ATAXIA"

32. Friedreich Ataxia - Friedreich Disease - Information Page With HONselect An autosomal recessive disease, usually of childhood onset, characterized pathol http://www.hon.ch/HONselect/RareDiseases/EN/C10.228.140.252.700.150.html

InitBulle("navy","#F8F8F8","#000066",1); HONcode sites All Web sites HONselect News ... Images HONselect Search English French German Spanish Portuguese the word the part of word in MeSH term in MeSH term and description Information on "Friedreich Ataxia": Medical hierarchy and definition Research Articles Web resources Medical Images Medical News Medical Conferences Clinical Trials Hierarchy English French German Spanish Portuguese Friedreich Ataxia Definition: An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA , pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75) Synonym(s): Friedreich Disease / Hereditary Spinal Sclerosis / Sclerosis, Hereditary Spinal / Freidreich's Ataxia /

33. HONselect - Friedreich Ataxia Translate this page Friedreich Familial Ataxia - Friedreich Hereditary Ataxia. Français, Ataxie deFriedreich, - Friedreich, ataxie - Hérédodégénérescence spinocérébelleuse de http://www.hon.ch/HONselect/RareDiseases/C10.228.140.252.700.150.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Friedreich Ataxia - Friedreich Disease - Hereditary Spinal Sclerosis - Sclerosis, Hereditary Spinal - Freidreich's Ataxia - Friedreich Familial Ataxia - Friedreich Hereditary Ataxia Français: Ataxie de Friedreich - Friedreich, ataxie - Hérédodégénérescence spinocérébelleuse de Friedreich Deutsch: Friedreich-Ataxie - Friedreich-Krankheit (Ataxie) - Hereditäre spinale Sklerose - Sklerose, hereditäre, spinale Español: Ataxia de Friedreich - Enfermedad de Friedreich - Esclerosis Espinal Hereditaria Português: Ataxia de Friedreich - Doença de Friedreich - Esclerose Espinhal Hereditária HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: No Web sites: English Yes Français Yes Deutsch No Español Yes Português No Home About us Site map Search ... Contact http://www.hon.ch/HONselect/RareDiseases/C10.228.140.252.700.150.html Last modified: Wed May 18 2005

34. Friedreich Ataxia friedreich ataxia is the most common inherited ataxia with an incidence of about friedreich ataxia is caused by mutations in the FRDA gene located on http://leedsdna.info/tests/Friedreich_Ataxia.htm

last update: Disease Names/Indications Locus/Gene(s) OMIM(s) Contact Friedreich ataxia FRDA Kim Flintoff Introduction Friedreich ataxia is the most common inherited ataxia with an incidence of about 1/50 000 in European populations (carrier frequency of ~1/120). Friedreich ataxia is caused by mutations in the FRDA gene located on chromosome 9 which encodes the protein frataxin. It is the first autosomal recessive disease identified in which a triplet repeat expansion, (GAA) n , is the causative mutation. Friedreich ataxia is characterised by progressive gait ataxia and ataxia of all four limbs, lack of tendon reflexes in the legs, loss of position sense, hypertrophic cardiomyopathy (80% of patients) and increased incidence of diabetes mellitus / impaired glucose tolerance (30%). Patients also have dysarthria and areflexia with optic atrophy and sensorineural deafness occasionally seen. Onset of symptoms is typically around puberty (8-15 years), and usually before 25 years of age with most patients wheelchair bound by their late twenties. Myocardial failure is the most common cause of death. The disease primarily affects central and peripheral nervous systems and the heart. The first pathological changes occur in the dorsal root ganglia with the loss of large sensory neurones followed by neurone degeneration in Clarke’s and posterior columns and pyramidal and dorsal cerebellar tracts of the spinal cord. Mild degenerative changes also occur in the medulla, cerebellum and pons. Cardiomyopathy and diabetes are thought to reflect independent sites of primary degeneration. In most other ataxias the primary site of degeneration is in the cerebellum. The disease shows a clinical resemblance to mitochondrial encephalopathies and there are reduced respiratory enzyme activities in some patients. Because of this Friedreichataxia has been suspected to involve some degree of dysfunction in mitochondrial respiration for some time.

35. Friedreich's Ataxia And I The author was diagnosed with friedreich's ataxia when eight years old. Read about the trials and triumphs. http://www.ohbother.co.uk/ataxia.htm

36. NORD - National Organization For Rare Disorders, Inc. Offers the synonyms, a general discussion and further resources. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Ataxia, Fried

37. FRIEDREICHS ATAXIA friedreich s ataxia is a slowly progressive disorder of the nervous system Unlike some neurological diseases, friedreich s ataxia does not affect mental http://www.mda.org.au/specific/mdafa.html

FACT SHEET FRIEDREICH'S ATAXIA 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 the early 1860's results in inability to coordinate voluntary muscle movements (ataxia). This condition is caused by degeneration of nerve tissue in the spinal cord and of nerves that extend to peripheral areas such as the arms and legs. That ataxia affects upper and lower limbs, and the head and neck. There is also a particular loss of the sensations of touch and pressure in the arms and legs. Unlike some neurological diseases, Friedreich's Ataxia does not affect mental capacity. What other conditions are associated with Friedreich's Ataxia There are conditions associated with Friedreich's Ataxia that do not result from the degeneration of nerves. Heart disease, sometimes in forms severe enough to be fatal, is one of the more common and threatening of these conditions. Abnormalities in heartbeat rhythm and diminished strength of the heart muscle have been noted in a large percentage of Friedreich's Ataxia patients, with palpitations and dyspnea (shortness of breath) the most common found symptoms.

38. NINDS Forwarding Page An information sheet the National Institute of Neurological Disorders and Stroke . http://www.ninds.nih.gov/health_and_medical/disorders/friedreichs_ataxia.htm

NINDS has redesigned its website and the URL for the page you were seeking has changed. The new URL for this page is /disorders/friedreichs_ataxia/friedreichs_ataxia.htm . Please update your bookmark to this page. You will be automatically taken to this page in 5 seconds, or you can click the link to go there now.

39. Friedreich's Ataxia Fact Sheet: National Institute Of Neurological Disorders And What services are useful to friedreich s ataxia patients and their families? In friedreich s ataxia, ataxia results from the degeneration of nerve http://www.ninds.nih.gov/disorders/friedreichs_ataxia/detail_friedreichs_ataxia.

Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system More about Friedreich's Ataxia Studies with patients Research literature Press releases Search NINDS... (help) Contact Us My Privacy NINDS is part of the National Institutes of Health You are here: Home Disorders Friedreich's Ataxia Friedreich's Ataxia Fact Sheet Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Friedreich's ataxia? What are the signs and symptoms? How is Friedreich's ataxia diagnosed? How is Friedreich's ataxia inherited? ... Where can I get more information? What is Friedreich's ataxia? Friedreich's ataxia, although rare, is the most prevalent inherited ataxia, affecting about 1 in every 50,000 people in the United States. Males and females are affected equally. top What are the signs and symptoms? Other symptoms that may occur include chest pain, shortness of breath, and heart palpitations. These symptoms are the result of various forms of heart disease that often accompany Friedreich's ataxia, such as cardiomyopathy (enlargement of the heart), myocardial fibrosis (formation of fiber-like material in the muscles of the heart), and cardiac failure. Heart rhythm abnormalities such as tachycardia (fast heart rate) and heart block (impaired conduction of cardiac impulses within the heart) are also common. About 20 percent of people with Friedreich's ataxia develop carbohydrate intolerance and 10 percent develop diabetes mellitus. Some people lose hearing or eyesight.

40. NINDS Forwarding Page Informaci³n general, diagn³stico, tratamiento, s­ntomas y enlaces. http://www.ninds.nih.gov/health_and_medical/pubs/ataxia_de_friedreich.htm

NINDS has redesigned its website and the URL for the page you were seeking has changed. The new URL for this page is /disorders/spanish/ataxia_de_friedreich.htm . Please update your bookmark to this page. You will be automatically taken to this page in 5 seconds, or you can click the link to go there now.

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