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Clinical and molecular studies in five brazilian cases of Friedreich ataxia

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Clinical and molecular studies in five brazilian cases of Friedreich ataxia

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Título Clinical and molecular studies in five brazilian cases of Friedreich ataxia
Autor Schwartz, Ida Vanessa Doederlein
Jardim, Laura Bannach
Puga, Ana Cristina Scheidt
Leistner-Segal, Sandra
Abstract 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.
Contido em Arquivos de neuro-psiquiatria. São Paulo. Vol. 57, n. 1 (1999), p. 1-5
Assunto Ataxia de Friedreich
[en] Cerebellar ataxia
[en] Expansion of unstable repeats
[en] Friedreich ataxia
Origem Nacional
Tipo Artigo de periódico
URI http://hdl.handle.net/10183/21885
Arquivos Descrição Formato
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