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Article

A large Japanese family with Machado-Joseph disease: clinical and genetic analysis.

Acta neurologica Scandinavica - 1 Apr 1999

Yoritaka A, Nakagawa-Hattori Y, Hattori N, Kitahara A, Mizuno Y

Abstract excerpt

We report clinical and genetic studies on a large Japanese family with Machado-Joseph disease (MJD), in which various different clinical phenotypes were seen in the same family, i.e., cerebellar ataxia type, severe amyotrophy type, and young-onset parkinsonism type. In addition, patients with very mild symptoms (formes frustes) were encountered. The expansion of the CAG repeat at the MJD locus ranged from 64 to...

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Identifiers

PMID: 10225355
DOI: 10.1111/j.1600-0404.1999.tb07354.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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