Clinical phenotype of Brazilian families with spinocerebellar ataxia 10.
Neurology
; 63(8): 1509-12, 2004 Oct 26.
Article
em En
| MEDLINE
| ID: mdl-15505178
ABSTRACT
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant ataxia caused by an ATTCT repeat expansion in an intron of the SCA10 gene. SCA10 has been reported only in Mexican families, in which the disease showed a combination of cerebellar ataxia and epilepsy. The authors report 28 SCA10 patients from five new Brazilian families. All 28 patients showed cerebellar ataxia without epilepsy, suggesting that the phenotypic expression of the SCA10 mutation differs between Brazilian and Mexican families.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ataxias Espinocerebelares
/
Epilepsia
/
Mutação
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
America do sul
/
Brasil
/
Mexico
Idioma:
En
Revista:
Neurology
Ano de publicação:
2004
Tipo de documento:
Article
País de afiliação:
Brasil