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Article

Caring for Machado-Joseph disease: current understanding and how to help patients.

Parkinsonism & related disorders - 1 Jan 2010

D'Abreu Anelyssa, França Marcondes C, Paulson Henry L, Lopes-Cendes Iscia

Abstract excerpt

Machado-Joseph disease or spinocerebellar ataxia 3 (MJD/SCA3) is a clinically heterogeneous, neurodegenerative disorder characterized by varying degrees of ataxia, ophthalmoplegia, peripheral neuropathy, pyramidal dysfunction and movement disorder. MJD/SCA3 is caused by a CAG repeat expansion mutation in the protein coding region of the ATXN3 gene located at chromosome 14q32.1. Current hypotheses regarding...

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Identifiers

PMID: 19811945
DOI: 10.1016/j.parkreldis.2009.08.012
PMCID: PMC2818316

Genes

ATXN3

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Source receipt: pubmed, retrieved 7 Sept 2026.

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