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Arq. neuropsiquiatr ; 57(1): 1-5, mar. 1999. ilus
Artigo em Inglês | LILACS | ID: lil-231868

RESUMO

Friedreich ataxia (FRDA), the most commom autosomal recessive ataxia, is caused in 94 per cent 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.


Assuntos
Humanos , Masculino , Feminino , Criança , Adulto , Ataxia de Friedreich/diagnóstico , Brasil , Ataxia de Friedreich/genética , Ataxia de Friedreich/fisiopatologia , Reação em Cadeia da Polimerase , Expansão das Repetições de Trinucleotídeos
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