[From gene to disease; autosomal dominant cerebellar ataxias]

Ned Tijdschr Geneeskd. 2004 Mar 27;148(13):614-6.
[Article in Dutch]

Abstract

The autosomal dominant cerebellar ataxias (ADCAs) are a clinically homogeneous, yet genetically heterogeneous group of cerebellar neurodegenerative disorders for which at least 20 genes or loci have been identified to date. Trinucleotide repeat expansions constitute the predominant pathogenic mutations in about two-thirds of Dutch families with ADCAs, even though the mutational mechanisms are variable as well.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cerebellar Ataxia / genetics*
  • DNA Mutational Analysis
  • Genotype
  • Humans
  • Mutation*
  • Netherlands
  • Trinucleotide Repeat Expansion / genetics*