Machado-Joseph disease in three Scandinavian families.
J Neurol Sci
; 156(2): 152-7, 1998 Apr 01.
Article
em En
| MEDLINE
| ID: mdl-9588850
ABSTRACT
Machado-Joseph disease (MJD) is an autosomal dominantly inherited neurodegenerative disorder characterized by varying age of onset and pronounced phenotypic heterogeneity. The clinical core features include gait ataxia, external ophthalmoplegia, nystagmus, and bulging eyes. Recently, Kawagushi et al. (1994) cloned the MJD1 gene on chromosome 14 and MJD turned out to be the fifth neurodegenerative disease caused by an unstable CAG repeat expansion. We have studied two large Danish families and one Norwegian family with MJD. Three features not previously associated with MJD are reported dementia, generalized muscle and joint pain, and in one case neuropathological examination revealed atrophy of the inferior olives. We found a significant inverse correlation between age of onset and the length of the CAG repeat expansion, and anticipation is described through four succeeding generations. Instability of the CAG repeat expansion was most pronounced at paternal transmission.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Machado-Joseph
Limite:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Europa
Idioma:
En
Revista:
J Neurol Sci
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Dinamarca