Article
Machado-Joseph disease in three Scandinavian families.
Journal of the neurological sciences - 1 Apr 1998
Løkkegaard T, Nielsen J E, Hasholt L, Fenger K, Werdelin L, Tranebjaerg L, Lauritzen M, Colding-Jørgensen E, Grønbech-Jensen M, Henriksen O A, Sørensen S A
Abstract excerpt
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...
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