21. Emory Genetics Lab, Friedreich Ataxia friedreich ataxia. INDICATIONS, Click here for Gene Reviews ClinicalSummary. friedreich ataxia, an autosomal recessive disorder, is http://www.emory.edu/WHSC/GENETICSLAB/dna/fried.htm

FRIEDREICH ATAXIA INDICATIONS Click here for Gene Reviews Clinical Summary Friedreich ataxia, an autosomal recessive disorder, is characterized by spinocerebellar degeneration involving the spinocerebellar tracts, dorsal columns, pyramidal tracts, cerebellum and medulla. Disease symptoms usually begin before adolescence and are characterized by hyporeflexia or areflexia, corticospinal tract signs (Babinski response) and abnormalities in joint position and vibratory sensation. Cardiomyopathy and diabetes mellitus are other important manifestations of the disease. Recent investigations suggest that some patients with Friedreich ataxia retain their deep tendon reflexes and that this disorder is an allelic variant of classical Friedreich ataxia. Age at death is variable and ranges between the first and eighth decade of life (mean=37 years). Friedreich ataxia is caused by an abnormal expansion of a GAA repeat in the FRATAXIN gene, located on chromosome 9. Normal individuals have 7-34 copies of the GAA repeat, while individuals with Friedreich ataxia usually have between 200-900 copies. 95% of patients have an expansion in both alleles, while the remaining cases are compound heterozygotes, with a repeat expansion on one allele and a point mutation on the other. Genetic analysis is performed by PCR and Southern blot when necessary. SPECIMEN SPECIMEN REQUIREMENTS SHIPPING REQUIREMENTS Blood 5-10 ml whole blood in an EDTA ( purple top ) or ACD ( yellow top ) tube.

22. Friedreich Ataxia Research Update; Massimo Pandolfo, MD friedreich ataxia Research Update. Presented by. Dr. Pandolfo, working in collaborationwith other researchers, discovered the friedreich ataxia gene in 1996. http://www.ataxia.org/generations/2000/2000fall/ams/pandolfo.htm

Friedreich Ataxia Research Update Presented by Massimo Pandolfo, MD Montreal, Quebec, Canada Dr. Pandolfo received his M.D. at the University of Milan, Italy in 1980 and his post doctorate in molecular genetics from the University of California, Irvine. From 1988 to 1993, he worked in the Division of Biochemistry and Genetics of the Nervous System at the National Neurological Institute in Milan, Italy. From 1994 to 1996, he served as Assistant Professor of Neurology at Baylor College of Medicine in Houston, Texas. Since 1996, he has served as an Adjunct Professor at McGill University, Department of Neurology and Neurosurgery, in Montreal Canada. He also serves as Research Associate Professor in the Department of Medicine. Dr. Pandolfo, working in collaboration with other researchers, discovered the Friedreich Ataxia gene in 1996. Finding genes for genetic diseases is a little like finding the black box after an airplane crash. We find the "black box" that is essential to understand what went wrong, but it still needs to be decoded to understand what exactly went wrong and what measures we can take so this disaster does not happen again. When we find genes we find the primary abnormality in a genetic disease. We still have to go through all of the steps from the gene mutation to the development of the disease in order to understand what measures we can take to stop and prevent the disease from developing in younger persons who are at risk.

23. Health Ency.: Disease: Friedreich Ataxia friedreich ataxia. Definition friedreich ataxia is an inherited form of progressivedysfunction of the cerebellum, spinal cord, and peripheral nerves. http://www.accessatlanta.com/shared/health/adam/ency/article/001411.html

SEARCH: The Web Yellow Pages HOME AJC.COM Illustrated Health Encyclopedia Important notice Ency. home Disease F Friedreich ataxia Overview Symptoms Treatment Prevention Alternative names: Spinocerebellar degeneration Definition: Friedreich ataxia is an inherited form of progressive dysfunction of the cerebellum, spinal cord, and peripheral nerves. Causes and Risks 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). Heart disease usually develops and may progress into heart failure . Death may result from heart failure or dysrhythmias that will not respond to treatment.

24. Arch Neurol -- Page Not Found Molecular Pathogenesis of friedreich ataxia Author Information MassimoPandolfo, MD friedreich ataxia, the most common type of inherited http://archneur.ama-assn.org/issues/v56n10/abs/nnr8142.html

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery MSJAMA Science News Updates Meetings Peer Review Congress The page you requested was not found. The JAMA Archives Journals Web site has been redesigned to provide you with improved layout, features, and functionality. The location of the page you requested may have changed. To find the page you requested, click here HOME CURRENT ISSUE PAST ISSUES ... HELP Error 404 - "Not Found"

25. Arch Neurol -- Page Not Found 59;1832, November 2002, LateOnset Tay-Sachs Disease as a friedreich ataxia Phenocopy,Susan L. Perlman, MD David R. Lynch, MD, PhD; Jennifer M. Farmer, MS http://archneur.ama-assn.org/issues/v59n11/ffull/nlt1102-2.html

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery MSJAMA Science News Updates Meetings Peer Review Congress The page you requested was not found. The JAMA Archives Journals Web site has been redesigned to provide you with improved layout, features, and functionality. The location of the page you requested may have changed. To find the page you requested, click here HOME CURRENT ISSUE PAST ISSUES ... HELP Error 404 - "Not Found"

26. 2863: Towards A Prevention Of Cardiomyopathy In Friedreich Ataxia By Idebenone. Towards a prevention of cardiomyopathy in friedreich ataxia by idebenone. P.Rustin, K. ChantrelGroussard, JC von Kleist-retzow, A. Munnich, A. Rotig. http://www.faseb.org/genetics/ashg99/f2863.htm

Program Nr: 2863 Towards a prevention of cardiomyopathy in Friedreich ataxia by idebenone. P. Rustin, K. Chantrel-Groussard, J.C. von Kleist-retzow, A. Munnich, A. Rotig. INSERM U-393, Hopital Necker Enfants Malades, Paris, France.

27. Ataxia FL 334423023 Phone 800.543.5728 or 954.481.6611 Fax 954.725.1153 E-mail info@atcp.orgWeb site www.atcp.org friedreich ataxia Parents Group (FAPG) Web site 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

28. Welcome To ENH.org - Health Encyclopedia: Friedreich Ataxia friedreich ataxia. Definition friedreich ataxia is an inherited form of progressivedysfunction of the cerebellum, spinal cord, and peripheral nerves. http://www.enh.org/Encyclopedia/ency/article/001411.asp

Disease Reference Injury Reference Test Reference Nutrition Reference ... Symptoms Reference Friedreich ataxia Disease Injury Nutrition Poison ... Z 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). Heart disease usually develops and may progress into heart failure . Death may result from heart failure or dysrhythmias that will not respond to treatment.

29. Recessive Ataxias Friedreich's Ataxia. FA Research Timeline. Finaly a mouse model for friedreich ataxia February 2001. Another article on the FA mouse model - January 2001. http://internaf.org/ataxia/recessive.html

Recessive Ataxias FA AT SCA 8 Friedreich's Ataxia FA Research Timeline Finaly a mouse model for Friedreich ataxia - February 2001 Another article on the FA mouse model - January 2001 PRE-NATAL diagnosis of Friedreich's Ataxia - January 2001 ... Science Online Frataxin And Iron Accumulation In The Mitochondria Symposium in France paper on yeast and iron regulation NIH Press Release Study May Reveal Clues to Friedreich's Ataxia Pippets Parlour Good set of FA links by research student Small FA survey results - 2001 FRDA news - MitoQ update Ataxia Telangiectasia GeneClinics A-T AT Children's Project The A-T Appeal Ataxia-Telangiectasia group in the UK. (Glynis Watkins) Pediatric Database description of A-T : OMIM entry for A-T (Ataxia Telangiectasia): OMIM entry for A-T Variant: Family Village: A-T entry SCA 8 OMIM entry for Spinocerebellar ataxia type 8 (A Recessive Infant-Onset Spinocerebellar Ataxia) Contact Information Electronic mail For General Information: internaf-owner@yahoogroups.com

30. Mouse Models For Friedreich Ataxia Exhibit Cardiomyopathy, Sensory Nerve Defect Titre, Mouse models for friedreich ataxia exhibit cardiomyopathy, sensory nervedefect and FeS enzyme deficiency followed by intramitochondrial iron deposits. http://www.inserm.fr/faitsmarquants/FaitsMarquants2001.nsf/WWWBiblioTitre/A3085A

31. Friedreich Ataxia (FRDA) - DNA Analysis friedreich ataxia, FRDA, DNA Analysis. friedreich ataxia (FRDA) is progressionof the disease . friedreich ataxia (FRDA) DNA ANALYSIS. http://imgen.bcm.tmc.edu/medgen/tests/dna/friedreichataxia.html

FRIEDREICH ATAXIA (FRDA) DNA ANALYSIS Reasons for Referral: Confirmation of diagnosis of individuals with mental retardation or developmental delay Carrier or predictive testing for asymptomatic individuals with a positive family history for FRDA. Molecular analysis of the affected relative or both of the carrier parents is recommended. Prenatal testing for high-risk families. Molecular analysis of the affected relative and both of the carrier parents is required. We recommend that genetic and/or psychological counseling be made available to all individuals considering having confirmatory, carrier or predictive testing for FRDA. Testing Methodology: Direct Mutation Analysis: Long PCR analysis across the GAA region of the X25 gene to determine allele sizes. All normal sized alleles and the vast majority of expanded alleles will be detected in this analysis. Southern analysis is used to identify extremely large GAA repeat expansions and to confirm the PCR results. Allele sizes will be reported as approximations and size ranges are subject to change as more information becomes available.

32. Friedreich's Ataxia Fact Sheet A comprehensive resources guide and fact sheet about friedreich's ataxia, compiled by NINDS, the National Category Health Conditions and Diseases ataxia......friedreich's ataxia fact sheet compiled by the National Institute of NeurologicalDisorders 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.

33. FRIEDREICHS ATAXIA What is friedreich's ataxia? friedreich's ataxia is a slowly progressive disorder of the nervous system and muscles. 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. Diabetes mellitus, characterised by abnormally high blood and urinary sugar levels, is another condition that may attend Friedreich's Ataxia. Most Friedreich's Ataxia patients who becomes diabetic will do so late in the course of the disease. The nature of the relationship between Friedreich's Ataxia and diabetes has not yet been determined.

34. Friedreich's Ataxia Parents Group Forum for parents to share information, questions and support. Includes a FAQ, new medical findings, inspirations and photos. http://www.fortnet.org/fapg

Welcome to the Friedreich's Ataxia Parents Group *Use the Site Map for Temporary Navigation *To subscribe to the FA Parents email group click here Search for: FA Parents Group Introduction: In September of 1997, a small group of FA parents began a mailing list to share questions, support and information about Friedreich's ataxia . Our online support group, FAPG, has grown to an international list that now includes parents of other childhood-onset ataxias . E-mail is a great forum for support and has remedied the isolation and loneliness many of us feel dealing with the challenges of raising children with these degenerative diseases. This website provides another forum for parents to share our unique experiences and knowledge of how we've learned to cope with ataxia in our family. If you are the parent of a newly diagnosed child with FA, the following link on the FARA website may answer many of your early questions. If you would like to join our free email support group, follow the instructions on the subscribe page.

35. Facts About Friedreich's Ataxia | MDA Publications Factsheet on this inherited disorder of the nervous system provides definitions, symptoms, and causes. With resources for additional information. http://www.mdausa.org/publications/fa-fried.html

Facts About Friedreich's Ataxia (FA) (FRDA) Muscular Dystrophy Association Erin Kiernan, a teenager with Friedreich's Ataxia, monitors her cardiac function closely and gets help from several specialists. Introduction Questions and Answers Does It Run in the Family? MDA's Search for Treatments and Cures ... MDA Is Here to Help You INTRODUCTION Dear Friends: When I was about 14, I started having problems keeping my balance when standing or walking. After doctors did some tests, I found out I had Friedreich’s ataxia. My parents and I immediately learned all we could about FA, with MDA’s help. There was no history of the disease in our family so it was a whole new world to us. Michelle Moffitt Smith This pamphlet has been prepared to help you deal with just that situation, by giving you much of the basic knowledge about FA that you’ll need as you or your child learns to live with this disease. You’ll find out that FA affects each person differently, and that, while it presents challenges in daily life, there are many techniques, technological devices and medical treatments to help you meet those challenges. You’ll read here that FA doesn’t affect the intellect and doesn’t always take away the ability to walk. You’ll also read that some exciting new research in FA may lead to the development of drugs to alleviate symptoms.

36. Ataxia De Friedreich Informaci³n general, diagn³stico, tratamiento, s­ntomas y enlaces. http://www.ninds.nih.gov/health_and_medical/pubs/ataxia_de_friedreich.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 Ataxia de Friedreich Get Web page suited for printing Email this to a friend or colleague Request free mailed brochure Tabla de Contenido ¿Qué es la Ataxia de Friedreich? ¿Cuáles son los signos y síntomas? ¿Cómo se diagnostica la Ataxia de Friedreich? ¿Cómo se hereda la ataxia de Friedreich? ... ¿Dónde puedo obtener más información? ¿Qué es la Ataxia de Friedreich? La Ataxia de Friedreich es una enfermedad heredada que ocasiona daño progresivo al sistema nervioso ocasionando síntomas que oscilan entre debilidad muscular y problemas de dicción, por un lado, y enfermedad cardíaca, por el otro. Se le llama por el nombre del médico Nicholas Friedreich, que describió inicialmente la condición en la década de 1860. "Ataxia", que se refiere a los problemas de coordinación, tales como movimientos torpes y falta de estabilidad, ocurre en muchas enfermedades y condiciones diferentes. En la ataxia de Friedreich, la ataxia resulta en la degeneración del tejido nervioso en la médula espinal y de los nervios que controlan los movimientos musculares en los brazos y en las piernas. La médula espinal se hace más delgada y las células nerviosas pierden algunos de sus cubrimientos de mielina - la capa de aislamiento en todas las células nerviosas que ayuda a transmitir los impulsos nerviosos.

37. THE MERCK MANUAL, Sec. 14, Ch. 179, Disorders Of Movement Information about cerebellar and spinocerebellar disorders. Includes a short discussion about friedreich's ataxia, cerebellar ataxias and multiple systems atrophy. http://www.merck.com/pubs/mmanual/section14/chapter179/179g.htm

This Publication Is Searchable The Merck Manual of Diagnosis and Therapy Section 14. Neurologic Disorders Chapter 179. Disorders Of Movement Topics [General] Tremor Dyskinesias Drug-Induced Movement Disorders ... Idiopathic Orthostatic Hypotension And Shy-Drager Syndrome Cerebellar And Spinocerebellar Disorders Disorders of the cerebellum and its inflow or outflow pathways produce deficits in the rate, range, and force of movement. Anatomically, the cerebellum has three subdivisions. The archicerebellum (vestibulocerebellum) comprises the flocculonodular lobe, helps maintain equilibrium and coordinate eye-head-neck movements, and is closely interconnected with the vestibular nuclei. The midline vermis (paleocerebellum) helps coordinate movement of the trunk and legs. Vermis lesions result in abnormalities of stance and gait. The lateral hemispheres, which make up the neocerebellum, control ballistic and finely coordinated limb movements, predominantly of the arms. Signs of cerebellar disease are listed in Table 179-3.

38. FA FAQ friedreich's ataxia Frequently Asked Questions. What is friedreich'sataxia? What are the major symptoms of friedreich's ataxia? http://www.fortnet.org/fapg/faq.htm

Friedreich's Ataxia - Frequently Asked Questions What is Friedreich's Ataxia? What are the major symptoms of FA? What other symptoms might occur? How is FA passed on in the family? ... What should somebody with FA do? What is Friedreich's ataxia? Friedreich's ataxia (FA) is a very rare neurological genetic disorder, that affects speech, balance and coordination. In some respects it is similar to multiple sclerosis. It is an inherited genetic disease in which a person is born with. Most people who have Friedreich's Ataxia, eventually need support to walk, like a scooter, walker or wheelchair. Although, not deemed terminal, it is progressive and as a result, complications can occur to the respiratory systems, (heart and lungs etc.) 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. Presently there is no known cure, but please don't fret or become discouraged, because with the advancement of all the recent genetic discoveries and research, there is great deal of hope indeed! What are the major symptoms of Friedreich's ataxia?

39. NORD - Friedreich's Ataxia Offers the synonyms, a general discussion and further resources. http://www.stepstn.com/cgi-win/nord.exe?proc=GetDocument&rectype=0&recnu

40. CajunHeart's HomePage - Living Life With Ataxia Site about me living a positive life despite friedreich's ataxia. http://cajunheart.tripod.com

Get Five DVDs for $.49 each. Join now. Tell me when this page is updated NOTE: This page MAY also take up to a minute to fully load so please have a little patience! click here for local weather forecast Although more than 150,000 men, women and children across the United States are affected by either a hereditary form or a sporadic form of Ataxia, many Americans are unaware of the disease. Ataxia can strike anyone anywhere in the world and has no regards to age, race and/or gender! As with many degenerative diseases of the nervous system, there is currently no effective cure or treatment for Ataxia. What are the signs and symptoms of Ataxia? How is Ataxia passed on in the family? CHALLENGED Some say I am disabled, but you know that isn't true I simply have a challenge a little different from you. My slight inconvenience has taught me things they could not know Each obstacle is a victory, enabling me to grow. I'm not really any different, I cry, I laugh, I snore I don't want to be treated as if I'm not a person anymore. Out of good intentions, people are afraid to let me try

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