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Machado-Joseph disease in three Scandinavian families.

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.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Løkkegaard T,Nielsen JE,Hasholt L,Fenger K,Werdelin L,Tranebjaerg L,Lauritzen M,Colding-Jørgensen E,Grønbech-Jensen M,Henriksen OA,Sørensen SA

doi

10.1016/s0022-510x(98)00081-1

subject

Has Abstract

pub_date

1998-04-01 00:00:00

pages

152-7

issue

2

eissn

0022-510X

issn

1878-5883

pii

S0022-510X(98)00081-1

journal_volume

156

pub_type

杂志文章

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