1. GeneReviews: Friedreich Ataxia An in depth look at this disorder. Includes a summary, diagnosing, molecular genetic testing, clinical description and management. http://www.geneclinics.org/profiles/friedreich/

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2. EMedicine - Friedreich Ataxia : Article By Eric Ciliberti, MD friedreich ataxia friedreich ataxia (FA, FRDA, friedreich ataxia 1, OMIM *229300) is an autosomal recessive ataxia resulting from a mutation of a gene locus on chromosome 9. It was first 1863 http://www.emedicine.com/neuro/topic139.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Neurology Movement And Neurodegenerative Diseases Friedreich Ataxia Last Updated: March 8, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: Friedreich's ataxia AUTHOR INFORMATION Section 1 of 8 Author Information Introduction Clinical Differentials ... Bibliography Author: Eric Ciliberti, MD , Staff Physician, Department of Neurology, Cleveland Clinic Florida Coauthor(s): Nestor Galvez-Jimenez, MD , Program Director of Movement Disorders, Director of Neurology Residency Training Program, Department of Neurology, Division of Medicine, Cleveland Clinic Florida Eric Ciliberti, MD, is a member of the following medical societies: American Academy of Ophthalmology American Society of Cataract and Refractive Surgery Contact Lens Association of Ophthalmologists , and Southern Medical Association Editor(s): Dianna Quan, MD

3. Ataxia: Recessive onset with retained reflexes (EOCA) 13q12. friedreich ataxia Frataxin (FRDA); 9q13. friedreich ataxia 2 ( FRDA 2) 9p23 http://www.neuro.wustl.edu/neuromuscular/ataxia/recatax.html

Front Search Index Links ... Ataxia-Oculomotor Apraxia 1 (AOA1): Aprataxin; 9p13 Ataxia-Oculomotor Apraxia 2 (AOA2): Senataxin; 9q34 Ataxia telangectasia : ATM; 11q22 Ataxia telangectasia-like (ATLD): MRE11; 11q21 Ataxia with neuropathy Baltic Myoclonus (Unverricht-Lundborg) : Cystatin B; 21q22 Cayman ataxia : ATCAY; 19p13 Cerebelloparenchymal disorders (CPD): II III IV V ... Charlevoix-Saguenay - Spastic Ataxia : Sacsin; 13q12 Cockayne Syndrome Coenzyme Q10 deficiency Cytochrome c Oxidase I : Mitochondrial Early onset with retained reflexes (EOCA) Friedreich ataxia : Frataxin (FRDA); 9q13 Friedreich ataxia 2 (FRDA 2): 9p23 Hypogonadism Infantile Onset Spinocerebellar Ataxia Leukoencephalopathy with vanishing white matter Macular dystrophy ... Salla syndrome (Sialic acid storage): SLC17A5; 6q14 Vitamin E deficiency Xeroderma pigmentosum Metabolic ataxias Abetalipoproteinemia : MTP; 4q22 Biotinidase Deficiency Carnitine acetyltransferase Cerebrotendinous Xanthomatosis Hartnup ... Hyperammonemic : Urea cycle Hypobetalipoproteinemia : APOB; 2p24, 3p22 L-2 Hydroxyglutaric acidemia Maple Syrup Urine Disease : BCKDH; 19q13

4. Ataxia Ataxia ( hereditary ataxias, friedreich ataxia, ataxia telangiectasia, essential tremor, spastic paraplegia, spinocerebellar ataxia www.atcp.org. friedreich ataxia Parents Group (FAPG http://www.kumc.edu/gec/support/ataxia.html

Ataxia (hereditary ataxias, Friedreich ataxia, ataxia telangiectasia, essential tremor, spastic paraplegia, spinocerebellar ataxia) National Ataxia Foundation Support Groups 2600 Fernbrook Lane, Suite 119 Minneapolis, MN 55447 Phone: 763.553.0020 Fax: 763.553.0167 E-mail: naf@ataxia.org Web site: http://www.ataxia.org/ Ataxia Telangiectasia Children's Project 668 South Military Trail Deerfield Beach, FL 33442-3023 Phone: 800.543.5728 or 954.481.6611 Fax: 954.725.1153 E-mail: info@atcp.org Web site: www.atcp.org Friedreich Ataxia Parents Group (FAPG) Web site: http://www.fortnet.org/fapg/ HSFinfo.org Hereditary Spastic Paraplegia, Familial Spastic Paraparesis National Friedreich Ataxia Group Room 10, Winchester House Kennington Park, Cranmer Rd London SW9 6EJ England Phone: 020 7582 1444 Fax: 020 7582 9444 Web site: http://glaxocentre.merseyside.org/asg.html Also See: Information for Siblings and Family Members Neurological conditions Neuromuscular conditions WeMove (Worldwide Education and Awareness for Movement Disorders), Mount Sinai Medical Center, NY NY National organizations information on genetic conditions or birth defects Ataxias: Classification , Washington University of St Louis, MO Dominant ataxias , Washington University of St Louis, MO Recessive ataxias , Washington University of St Louis, MO Familial Spinal Cord Syndromes , Washington University of St Louis, MO Systemic Ataxias (such as thyroid, and others

5. Friedreich Ataxia Disease characteristics. friedreich ataxia (FRDA) is characterized by slowly progressive ataxia with onset recombinant yeast frataxin implications for friedreich ataxia. Am J Hum http://www.geneclinics.org/profiles/friedreich/details.html

Friedreich Ataxia [FRDA] Authors: Sanjay I Bidichandani, MBBS, PhD Tetsuo Ashizawa, MD About the Authors / Author History Initial Posting: 18 December 1998 Last Revision 9 December 2002 Summary Disease characteristics. Friedreich ataxia (FRDA) is characterized by slowly progressive ataxia with onset usually before the age of 25 years typically associated with depressed tendon reflexes, dysarthria, Babinski responses, and loss of position and vibration senses. About 25% of patients have an "atypical" presentation with later onset (after age 25 years), retained tendon reflexes, or unusually slow progression of disease. About two thirds of patients have cardiomyopathy. Diabetes mellitus occurs in 10% of patients. Diagnosis/testing. The vast majority of patients with FRDA have identifiable mutations in the FRDA gene (chromosomal locus 9q13). The most common mutation intron 1 of the FRDA gene . About 4% of patients affected with FRDA are compound heterozygotes for the GAA expansion and an FRDA point mutation Molecular genetic testing for the GAA triplet-repeat expansion and FRDA point mutations is available on a clinical basis.

6. EMedicine - Neuropathy Of Friedreich Ataxia : Article By N K Nikhar, MD Neuropathy of friedreich ataxia Named after Friedreich from Heidelberg, who reported cases of nonsyphilitic ataxia in the 1860s, friedreich ataxia (FA) is http://www.emedicine.com/neuro/topic265.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Neurology Neuromuscular Diseases Neuropathy of Friedreich Ataxia Last Updated: December 16, 2001 Rate this Article Email to a Colleague Synonyms and related keywords: Friedreich’s ataxia AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: N K Nikhar, MD , Assistant Professor, Department of Neurology, George Washington University School of Medicine N K Nikhar, MD, is a member of the following medical societies: American Academy of Neurology Editor(s): Paul E Barkhaus, MD , Director, Division of Neuromuscular Diseases, Milwaukee Veterans Administration Medical Center; Professor, Department of Neurology, Medical College of Wisconsin; Francisco Talavera, PharmD, PhD , Senior Pharmacy Editor, Pharmacy, eMedicine; Glenn Lopate, MD

7. The Freidriechs Ataxia Association Of NSW work. With this in mind the new national body, friedreich ataxia Research Association (Australasia), has been formed. The organisation http://www.faa.org.au/

The Friedreichs Ataxia Association of NSW Download our newsletter ( PDF format) June 2002 November 2002 April 2003 December 2003 ... 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 2003 We have now reached an exciting stage of our work. Hopefully the next months will mark a significant stage in our progress towards a treatment for our sufferers. Peter Rousch AM President, FAA (NSW) home about resources research ... contact The FAA of NSW financially helps to support reseach into finding a cure for Friedreichs Ataxia.The bulk of our funding goes to The Murdoch Institute in Melbourne, Australia. Our ABN is 39 541 207 316 and all donations over $2.00 are tax deductible.

8. Disease - Friedreich Ataxia (FRDA) Please Rate this Page. friedreich ataxia (FRDA). Disease Name, friedreich ataxia (FRDA). SearchTerm, Hereditary ataxia, Spinocerebellar http://disability.ucdavis.edu/resources/diseases/list/disease.asp?id=28

9. HONselect - Friedreich Ataxia English friedreich ataxia, Friedreich Disease - Hereditary Spinal Sclerosis - Sclerosis, Hereditary Spinal - Freidreich s Ataxia - Friedreich Familial Ataxia http://www.hon.ch/HONselect/RareDiseases/C10.228.140.252.700.150.html

10. Friedreich Ataxia last update 21/02/2004. Disease Names/Indications, Locus/Gene(s), OMIM(s), Contact. friedreich ataxia, FRDA, 229300, Kim Flintoff. Introduction. 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.

11. ► Friedreich Ataxia friedreich ataxia. Definition friedreich ataxia is an inherited form of progressive dysfunction of the cerebellum, spinal cord, and peripheral nerves. http://www.umm.edu/ency/article/001411.htm

Disease Nutrition Surgery Symptoms Injury ... Z Maryland Medical Center Programs Joslin Diabetes Center Maryland Heart Center Home Medical Reference ... Encyclopedia (English) Toggle English Spanish Friedreich ataxia Overview Symptoms Treatment Prevention Definition: Friedreich ataxia is an inherited form of progressive dysfunction of the cerebellum, spinal cord, and peripheral nerves. Alternative Names: Spinocerebellar degeneration Causes, incidence, and risk factors: Friedreich ataxia is an autosomal recessive inherited polyneuropathy (damage to multiple nerves). The symptoms are caused by degeneration of structures in the cerebellum and spinal cord responsible for coordination, muscle movement, and some sensory functions. Symptoms generally begin in childhood before puberty. Early symptoms include an unsteady gait ataxia changes in speech dysarthria ), loss of reflexes, and jerky eye movements ( nystagmus Abnormal muscle control and tone lead to spinal changes and scoliosis or kyphoscoliosis may develop. Individuals with Friedreich's ataxia may also have hammer toe and high arches (pes cavus).

12. Friedreich's Ataxia (FRDA) Friedreich s Ataxia (FRDA). Epidemiology friedreich ataxia effects of genetic understanding on clinical evaluation and therapy. Arch Neurol 2002; 59 7437. http://www.uwo.ca/clinns/resident/pocketbook/disorders/movement/frda.htm

Friedreich's Ataxia (FRDA) Epidemiology First described in 1863 The most common early-onset hereditary ataxia - prevalence in North America estimated at 2 per 100,000 - carrier frequency of 1:120 Genetics Autosomal recessive inheritance - high risk if consanguinous unions - risk for sibling is 25% Gene for FRDA (X25) maps to 9q - codes for highly conserved protein, frataxin - most FRDA due to homozygous alleles with GAA triplet repeat expansions in first intron of X25 - rarely may have compound heterozygotes, with one allele bearing the intronic expansion and the other allele having a truncation or missense mutation (usually atypical or milder disease) - expanded repeats are unstable in transmission, esp paternal ( anticipation FRDA is due to deficiency of frataxin protein - GAA expansion interferes with transcription of protein - larger repeats more profoundly inhibit frataxin production - lead to earlier more severe form while small pathological expansions may allow small amount of residual production - frataxin is expressed mostly in heart, liver, skeletal muscle and spinal cord - protein localized on inner mitochondrial membrane - possibly leads to iron accumulation when deficient making mitochondria more susceptible to oxidative stress ( free radical toxicity Pathology - minimal involvement of brainstem, cerebellum and cerebrum (ie. not a cerebellar disease!)

13. Clinical Trial: Safety Study Of Idebenone To Treat Friedreich's Ataxia Safety Study of Idebenone to Treat Friedreich s Ataxia. This study is currently recruiting patients. Sponsored by. friedreich ataxia, Drug Idebenone, Phase I. http://www.clinicaltrials.gov/ct/gui/c/w2r/show/NCT00015808?order=1&JServSession

14. Friedreich Ataxia Home Types of Disabilities friedreich ataxia Resources. friedreich ataxia. Friedreich s Ataxia (FA) is an uncommon, slowly http://www.scapd.on.ca/index.php?pid=friedreich_ataxia

15. Genetics Research: Friedreich Ataxia friedreich ataxia. Principal Investigators Pragna Patel, Ph.D. Arch. Neurol. in press. Bidichandani, SI, Patel, PI, and Ashizawa, T. (1998) friedreich ataxia. http://www.bcm.tmc.edu/neurol/research/genes/genes5.html

Friedreich Ataxia Principal Investigators: Pragna Patel, Ph.D. Autosomal recessive disorder Frequency: 1-2 in 50,000 Symptoms include: progressive gait and limb ataxia, absent tendon reflexes in the legs, loss of position sense, hypertrophic cardiomyopathy Gene located on long arm of chromosome 9 Our recent discoveries include: A GAA triplet repeat expansion in intron 1 of a gene (X25) encoding the protein, frataxin, has been found as the disease-causing mutation in the majority of FRDA patients A minority of patients have a point mutation in X25 on one chromosome The GAA triplet repeat expansion interferes with X25 gene transcription The GAA triplet repeat expansion is unstable and can undergo dramatic length variation in somatic cells DNA-based diagnosis is possible by PCR or Southern analysis Selected References: Bidichandani, S.I., Purandare, S.M., Taylor E.E., Gumin,G., Machkhas,H., Harati,Y., Gibbs, R.A., Ashizawa,T., Patel, P.I. (1999) Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts, and enhanced mutagenesis in the flanking sequence. Hum. Mol. Genet. in press. Bidichandani, S.I., Garcia, C.A., Patel, P.I., Dimachkie, M.M. (1999) Very late-onset Friedreich ataxia (VLOFA) despite large GAA triplet repeat expansions. Arch. Neurol. in press.

16. Friedreich Ataxia - Genetics Home Reference Genetic disorder catalog. friedreich ataxia. What is friedreich ataxia? friedreich ataxia may also affect heart function. How common is friedreich ataxia? http://ghr.nlm.nih.gov/condition=friedreichataxia

A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Friedreich ataxia Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Genes and Disease Genetic disorder summaries Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Friedreich ataxia What is Friedreich ataxia? Friedreich ataxia is a genetic condition that damages nerve tissue, causing a loss of muscle coordination (ataxia) that worsens over time. Other characteristics of this condition include the gradual loss of strength and sensation in arms and legs, muscle stiffness (spasticity) in the limbs, and impaired speech. Friedreich ataxia may also affect heart function. How common is Friedreich ataxia? Friedreich ataxia is estimated to affect 1 in 40,000 people. What genes are related to Friedreich ataxia? Mutations in the FRDA gene cause Friedreich ataxia.

17. Friedreich Ataxia Best Practice Guidelines (eu) friedreich ataxia (European Guidelines). Disclaimer. 229300. friedreich ataxia (FRDA) (FA). Frataxin gene (X25). Frataxin. FRDA. Introduction. http://www.emqn.org/guidelines.php?page=fa

18. Emory Genetics Laboratory, Emory University Department of Human Genetics. friedreich ataxia. friedreich ataxia. Indications Click here for Gene Reviews Clinical Summary Friedreich http://server2k.genetics.emory.edu/lab/user/index.pl?display=tests&test=40

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

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 a disorder Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health 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.

20. NINDS Friedreich's Ataxia Information Page More about friedreich s ataxia, Studies with patients, Research literature, Press releases, NINDS friedreich s ataxia Information Page Reviewed 0701-2001 http://www.ninds.nih.gov/health_and_medical/disorders/friedreichs_ataxia.htm

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 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? 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?

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