Recent results in ataxia research

Riv Neurol. 1991 Jul-Aug;61(4):154-7.

Abstract

Five families with late onset spinocerebellar ataxia (SCA) were studied. A high association was found between the disease and HLA. A stronger association results with a marker called D6S89. Clinical data of 26 patients and neuropathological study in two are reported. The clinical phenotypes of other HLA-linked SCA kindreds shows differences when comparison is made. The Authors suggest that the phenotype might appear more homogeneous if disease duration is taken into account.

Publication types

  • Review

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 6
  • Female
  • Genes, Dominant
  • Genetic Carrier Screening
  • Genetic Linkage
  • Genetic Markers
  • HLA Antigens / genetics
  • Humans
  • Longitudinal Studies
  • Male
  • Middle Aged
  • Pedigree
  • Phenotype
  • Spinocerebellar Degenerations / classification*
  • Spinocerebellar Degenerations / epidemiology
  • Spinocerebellar Degenerations / genetics
  • Spinocerebellar Degenerations / pathology

Substances

  • Genetic Markers
  • HLA Antigens