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Article

Machado-Joseph disease in New England: clinical description and distinction from the olivopontocerebellar atrophies.

Movement disorders : official journal of the Movement Disorder Society - 1 Jan 1992

Sudarsky L, Corwin L, Dawson D M

Abstract excerpt

Experience is described in 25 patients from southern New England with Machado-Joseph Disease, examined serially at annual screening clinics. The disorder is dominantly inherited, with a wide range of phenotypic variation. Core clinical features described include ataxia, nystagmus, dysarthria, facial fasciculations, and lid retraction, producing a characteristic staring expression. In addition, young onset...

Topics

Adolescent
Adult
Child
Chromosome Aberrations
Chromosome Disorders
Female
Genes, Dominant
Genetics, Population
Humans
Male
Middle Aged
Neurologic Examination

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

New England

Olivopontocerebellar Atrophies

Phenotype

Retrospective Studies

Spinocerebellar Degenerations

Source

Identifiers

PMID: 1620136
DOI: 10.1002/mds.870070303

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1620136-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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