Clinical and molecular studies in five brazilian cases of Friedreich ataxia
AUTOR(ES)
Schwartz, Ida Vanessa Doederlein
DATA DE PUBLICAÇÃO
2010
RESUMO
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.
ASSUNTO(S)
friedreich ataxia ataxia de friedreich cerebellar ataxia expansion of unstable repeats
ACESSO AO ARTIGO
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