Clinical and molecular studies in five Brazilian cases of Friedreich ataxia
Arq. neuropsiquiatr
; 57(1): 1-5, mar. 1999. ilus
Artigo
em Inglês
| LILACS
| ID: lil-231868
Biblioteca responsável:
BR1.1
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.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Ataxia de Friedreich
Limite:
Adulto
/
Criança
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
América do Sul
/
Brasil
Idioma:
Inglês
Revista:
Arq. neuropsiquiatr
Assunto da revista:
Neurologia
/
Psiquiatria
Ano de publicação:
1999
Tipo de documento:
Artigo
País de afiliação:
Brasil