Do CTG expansions at the SCA8 locus cause ataxia?
Ann Neurol
; 54(1): 110-5, 2003 Jul.
Article
em En
| MEDLINE
| ID: mdl-12838526
ABSTRACT
To evaluate the significance of expanded CTG repeats at the SCA8 locus, we analyzed the allele distribution in 1,262 German ataxia patients. We found intermediate and expanded CTG repeats with similar frequencies in ataxia patients with and without established genetic diseases. One family linked to the SCA8 locus showed incomplete penetrance and an association of smaller CTG repeats with more severe disease. Our data question the disease-causing character of CTG expansions for SCA8 and advise great caution in genetic testing.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ataxia
/
Mutação Puntual
/
Expansão das Repetições de Trinucleotídeos
/
Proteínas do Tecido Nervoso
Limite:
Adult
/
Aged
/
Humans
/
Middle aged
Idioma:
En
Revista:
Ann Neurol
Ano de publicação:
2003
Tipo de documento:
Article