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

Mov Disord. 1992;7(3):204-8. doi: 10.1002/mds.870070303.


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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Female
  • Genes, Dominant / genetics
  • Genetics, Population*
  • Humans
  • Male
  • Middle Aged
  • Neurologic Examination
  • New England
  • Olivopontocerebellar Atrophies / classification
  • Olivopontocerebellar Atrophies / diagnosis
  • Olivopontocerebellar Atrophies / genetics*
  • Phenotype
  • Retrospective Studies
  • Spinocerebellar Degenerations / classification
  • Spinocerebellar Degenerations / diagnosis
  • Spinocerebellar Degenerations / genetics*