Clinical and molecular studies in five Brazilian cases of Friedreich ataxia

Arquivos de Neuro-Psiquiatria

Ida V.d. Schwartz¹  Laura B. Jardim²  Ana C.s. Puga¹  SÉrgio Cocozza¹  Sandra Leistner¹  Luciane C. Lima¹ 

[1] ,Universidade Federal do Rio Grande do Sul Departamento de Medicina Interna

关键词: Friedreich ataxia;    cerebellar ataxia;    expansion of unstable repeats;    ataxia de Friedreich;    ataxia cerebelar;    expansão instável de trinucleotídeos;   

DOI  :  10.1590/S0004-282X1999000100001

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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