Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype.
Ann Neurol
; 49(6): 805-7, 2001 Jun.
Article
em En
| MEDLINE
| ID: mdl-11409435
We report on a Dutch family in which 4 members in 2 generations have intermediate repeat lengths (53 and 54) for Machado-Joseph Disease/Spinocerebellar Ataxia (MJD/SCA3). All but the youngest have a restless legs syndrome with fasciculations and a sensorimotor axonal polyneuropathy. Central neurological abnormalities are only present in 2. This family shows that intermediate repeat lengths can be pathogenic and may predispose for restless legs and peripheral nerve disorder.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Machado-Joseph
/
Expansão das Repetições de Trinucleotídeos
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Risk_factors_studies
Limite:
Aged
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Europa
Idioma:
En
Revista:
Ann Neurol
Ano de publicação:
2001
Tipo de documento:
Article