| Clinical and molecular studies in five Brazilian cases of Friedreich ataxia. | |
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MedLine Citation:
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PMID: 10347715 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene. We have investigated this mutation in five Brazilian patients: four with typical FRDA findings and one patient with atypical manifestations, who was considered to have some other form of cerebellar ataxia with retained reflexes. The GAA expansion was detected in all these patients. The confirmation of FRDA diagnosis in the atypical case may be pointing out, as in other reports, that clinical spectrum of Friedreich's ataxia is broader than previously recognised and includes cases with intact tendon reflexes. |
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Authors:
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I V Schwartz; L B Jardim; A C Puga; S Cocozza; S Leistner; L C Lima |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Arquivos de neuro-psiquiatria Volume: 57 ISSN: 0004-282X ISO Abbreviation: Arq Neuropsiquiatr Publication Date: 1999 Mar |
Date Detail:
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Created Date: 1999-08-26 Completed Date: 1999-08-26 Revised Date: 2012-02-22 |
Medline Journal Info:
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Nlm Unique ID: 0125444 Medline TA: Arq Neuropsiquiatr Country: BRAZIL |
Other Details:
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Languages: eng Pagination: 1-5 Citation Subset: IM |
Affiliation:
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Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Brasil. ida@ez-poa.com.br |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Brazil Child Female Friedreich Ataxia / diagnosis*, genetics Humans Male Trinucleotide Repeat Expansion |
| Grant Support | |
ID/Acronym/Agency:
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969//Telethon |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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