A new autosomal dominant pure cerebellar ataxia

Neurology. 2001 Nov 27;57(10):1913-5. doi: 10.1212/wnl.57.10.1913.

Abstract

A kindred is described with a dominantly inherited "pure" cerebellar ataxia in which the currently known spinocerebellar ataxias have been excluded. In the eight subjects studied, a notable clinical feature is slow progression, with the three least affected having only a mild degree of gait ataxia after three or more decades of disease duration. Pending an actual chromosomal locus discovery, the name spinocerebellar ataxia (SCA)15 is expectantly applied.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Atrophy
  • Cerebellum / pathology
  • Chromosome Aberrations*
  • Chromosome Mapping
  • Female
  • Genes, Dominant*
  • Genetic Linkage
  • Genotype
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Neurologic Examination
  • Pedigree
  • Spinocerebellar Ataxias / diagnosis
  • Spinocerebellar Ataxias / genetics*