Intrafamilial variability in Machado-Joseph disease

Mov Disord. 1996 Nov;11(6):741-3. doi: 10.1002/mds.870110625.

Abstract

Dominantly inherited ataxias resulting from different gene mutations are difficult to distinguish based on clinical phenotypes. We believe the phenotypic variability within families can be a clue to clinical diagnosis. We illustrate the range of phenotypes extending from levodopa-responsive extrapyramidal disease to more purely ataxic syndromes seen in two families with molecularly proven Machado-Joseph disease.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Antiparkinson Agents / therapeutic use
  • Carbidopa / therapeutic use
  • Drug Combinations
  • Female
  • Genes, Dominant / genetics
  • Humans
  • Levodopa / therapeutic use
  • Machado-Joseph Disease / diagnosis
  • Machado-Joseph Disease / drug therapy
  • Machado-Joseph Disease / genetics*
  • Male
  • Neurologic Examination / drug effects
  • Phenotype*

Substances

  • Antiparkinson Agents
  • Drug Combinations
  • carbidopa, levodopa drug combination
  • Levodopa
  • Carbidopa