Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or Dentato-Rubro-Pallido-Luysian atrophy locus

Mov Disord. 1996 Mar;11(2):174-80. doi: 10.1002/mds.870110210.


The dominantly inherited ataxias are characterized both by phenotypic variability (phenotypic heterogeneity) within the same genotype and overlapping phenotypes from different genotypes (genotypic heterogeneity). Therefore it is important to characterize specific clinical-neuropathologic phenotypes as precisely as possible at the genetic level. We describe a family with dominantly inherited ataxia of late adult onset with relatively "pure" cerebellar signs. Neuropathologic examination in two individuals from this family revealed findings consistent with cerebello-olivary atrophy, suggesting that this neuropathologic phenotype many run true within f families. Mutations at the spinocerebellar ataxia-I, Machado-Joseph disease, and dentatorubropallidoluysian atrophy loci were excluded by direct DNA analysis on the leukocytes of one living affected member. Thus we provide evidence that these mutations are not responsible for this particular phenotype of dominantly inherited ataxia.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Brain / pathology
  • DNA Mutational Analysis*
  • Diagnosis, Differential
  • Female
  • Follow-Up Studies
  • Genes, Dominant / genetics*
  • Humans
  • Machado-Joseph Disease / diagnosis
  • Machado-Joseph Disease / genetics*
  • Machado-Joseph Disease / pathology
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Olivopontocerebellar Atrophies / diagnosis
  • Olivopontocerebellar Atrophies / genetics*
  • Olivopontocerebellar Atrophies / pathology
  • Phenotype*
  • Spinal Cord / pathology
  • Spinocerebellar Degenerations / diagnosis
  • Spinocerebellar Degenerations / genetics*
  • Spinocerebellar Degenerations / pathology