Spinocerebellar ataxia: localization of an autosomal dominant locus between two markers on human chromosome 6

Am J Hum Genet. 1987 Oct;41(4):524-31.

Abstract

Inherited spinocerebellar ataxias (SCA) are progressively degenerative neurological diseases. The primary site of degeneration is the cerebellar cortex--in particular, the Purkinje cells. In the present report, the SCA locus, inherited as an autosomal dominant trait in a large kindred, is localized to a region approximately 15 centimorgans telomeric of HLA-A on the short arm of chromosome 6.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 6*
  • DNA / genetics
  • Female
  • Genes, Dominant*
  • Genetic Linkage*
  • Genetic Markers*
  • HLA Antigens / genetics
  • Humans
  • Male
  • Nucleic Acid Hybridization
  • Pedigree
  • Spinocerebellar Degenerations / genetics*

Substances

  • Genetic Markers
  • HLA Antigens
  • DNA