Article
Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report.
BMC neurology - 24 Oct 2011
Bettencourt Conceição, Santos Cristina, Coutinho Paula, Rizzu Patrizia, Vasconcelos João, Kay Teresa, Cymbron Teresa, Raposo Mafalda, Heutink Peter, Lima Manuela
Abstract excerpt
BACKGROUND: Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disorder of late onset, which is caused by a CAG repeat expansion in the coding region of the ATXN3 gene. This disease presents clinical heterogeneity, which cannot be completely explained by the size of the repeat tract. MJD presents extrapyramidal motor signs, namely parkinsonism, more...
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