Article
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.
Movement disorders : official journal of the Movement Disorder Society - 1 Mar 1996
Subramony S H, Fratkin J D, Manyam B V, Currier R D
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.