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Friedreich Ataxia:     more books (31)

Bitter-sweet F.A.: The Sequel to Sweet F.A. - The Autobiography of Alun Peredur Who Suffers from Friedreich's Ataxia, an Inherited Disease by Alun Peredur Jones, 1991-12 Friedreich ataxia: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Toni, MS, CGC Pollin, 2005 Fasnax by Beryl (Edited by); Lumley, Joanna ( Preface); Friedreichs Ataxia Group (Recipes Compiled by) Holt, 1986 A contribution to the study of Friedreich's ataxia: With exhibition of cases by J. P. Crozer Griffith, 1889 Cardiomyopathy in Friedreich's ataxia: With studies of cardiovascular and respiratory function (Acta paediatrica. Supplement) by Claes Thorén, 1964 Friedreich's ataxia (SuDoc HE 20.3502:F 91/999) by U.S. Dept of Health and Human Services, 1999 Ataxia de Friedreich (SuDoc HE 20.3520:F 91/SPAN.) by U.S. Dept of Health and Human Services, 2000 [Miscellaneous publications, not catalogued separately] by Friedreichs Ataxia Group, 1994 Friedreich's paralysis by T. Duncan Greenlees, 1901 Weight of Glory by Jr. Al Eakes, 1985 Trh and Spinocerebellar Degeneration Ten Years to Live by Henry J. Schut, 1978-06 Through the eyes of a child by Amanda Jean Rieffenberger, 1997 Forms of pseudo-tabes due to lead, alcohol, diptheria, etc by James Hendrie Lloyd, 1892

lists with details

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
    
    Extractions: low graphics 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

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
    
    Extractions: 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/
    
    Extractions: 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.

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
    
    Extractions: 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/
    
    Extractions: @import "../../css/layout.css"; home molecular genetics Friedreich Ataxia 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. 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
    
    Extractions: 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: Table of Contents 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. 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

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
    
    Extractions: @import url(/medlineplus/images/advanced.css); Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: 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: 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
    
    Extractions: 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 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
    
    Extractions: Fri Jan 21 12:15:48 2000 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
    
    Extractions: 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)

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

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
    
    Extractions: last update: Disease Names/Indications Locus/Gene(s) OMIM(s) Contact Friedreich ataxia FRDA Kim Flintoff 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
    
    Extractions: 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. 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
    
    Extractions: 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.
    
    Extractions: 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
    
    Extractions: 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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