title: Machado-Joseph disease in New England: clinical description and distinction from the olivopontocerebellar atrophies.
abstract: 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 patients have spasticity, extrapyramidal rigidity, and dystonic manifestations. Late onset patients often have distal atrophy and sensory loss. Postural instability is often an early feature. We discuss the distinction of this entity from the olivopontocerebellar atrophies.
authors.affiliation: Neurology Division, Brigham and Women's Hospital, West Roxbury, Massachusetts.
authors.forename: L
authors.initials: L
authors.lastname: Sudarsky
authors.forename: L
authors.initials: L
authors.lastname: Corwin
authors.forename: D M
authors.initials: DM
authors.lastname: Dawson
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D005828:Genetics, Population; D006801:Humans; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D009511:New England; D009849:Olivopontocerebellar Atrophies / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D012189:Retrospective Studies; D013132:Spinocerebellar Degenerations / Q000145:classification / Q000175:diagnosis / Q000235:genetics*