On autosomal dominant cerebellar ataxia (ADCA) other than polyglutamine diseases, with special reference to chromosome 16q22.1-linked ADCA

Neuropathology. 2006 Aug;26(4):352-60. doi: 10.1111/j.1440-1789.2006.00719.x.

Abstract

Autosomal dominant cerebellar ataxia (ADCA) is a group of heterogeneous conditions. More than 20 genes or gene loci have been identified that are responsible for ADCA. Although expansions of the trinucleotide (CAG) repeat that encode polyglutamine are known to cause some forms of ADCA, growing knowledge about the genetic basis of ADCA indicates that many subtypes of ADCA are caused by mutations other than the CAG repeat/polyglutamine expansion. In this paper, we review ADCA caused by mutations other than polyglutamine expansions (i.e. "non-polyglutamine diseases"). We also describe the neuropathology of chromosome 16q22.1-linked ADCA, which appears to be the most common non-polyglutamine disease in Japan. What we find to be characteristic on the chromosome 16q22.1-linked ADCA brain is the presence of atrophic Purkinje cells surrounded by the formation of amorphous material, the latter composed of the Purkinje cell dendrites stemming from the cell bodies, the presynaptic terminals innervated by certain neurons, and the astroglial processes. Such neuropathological findings seem to be unique for this disease.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Aged
  • Aged, 80 and over
  • Animals
  • Brain / metabolism
  • Brain / pathology*
  • Cerebellar Ataxia / genetics*
  • Cerebellar Ataxia / metabolism
  • Cerebellar Ataxia / pathology*
  • Chromosomes, Human, Pair 16*
  • Female
  • Genes, Dominant
  • Humans
  • Immunohistochemistry
  • Japan
  • Mutation
  • Peptides
  • Purkinje Cells / pathology*
  • Trinucleotide Repeat Expansion

Substances

  • Peptides
  • polyglutamine