Document Detail

Clinical and molecular studies in five Brazilian cases of Friedreich ataxia.
MedLine Citation:
PMID:  10347715     Owner:  NLM     Status:  MEDLINE    
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.
I V Schwartz; L B Jardim; A C Puga; S Cocozza; S Leistner; L C Lima
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Arquivos de neuro-psiquiatria     Volume:  57     ISSN:  0004-282X     ISO Abbreviation:  Arq Neuropsiquiatr     Publication Date:  1999 Mar 
Date Detail:
Created Date:  1999-08-26     Completed Date:  1999-08-26     Revised Date:  2012-02-22    
Medline Journal Info:
Nlm Unique ID:  0125444     Medline TA:  Arq Neuropsiquiatr     Country:  BRAZIL    
Other Details:
Languages:  eng     Pagination:  1-5     Citation Subset:  IM    
Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Brasil.
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MeSH Terms
Friedreich Ataxia / diagnosis*,  genetics
Trinucleotide Repeat Expansion
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