History of genetic disease: the molecular genetics of Huntington disease - a history

Nat Rev Genet. 2005 Oct;6(10):766-73. doi: 10.1038/nrg1686.


The Huntington disease gene was mapped to human chromosome 4p in 1983 and 10 years later the pathogenic mutation was identified as a CAG-repeat expansion. Our current understanding of the molecular pathogenesis of Huntington disease could never have been achieved without the recent progress in the field of molecular genetics. We are now equipped with powerful genetic models that continue to uncover new aspects of the pathogenesis of Huntington disease and will be instrumental for the development of therapeutic approaches for this disease.

Publication types

  • Historical Article
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Chromosome Mapping
  • Chromosomes, Human, Pair 4
  • Disease Models, Animal
  • Genetic Testing
  • History, 20th Century
  • History, 21st Century
  • Humans
  • Huntington Disease / genetics*
  • Huntington Disease / history*
  • Mice
  • Models, Genetic
  • Mutation*
  • Trinucleotide Repeat Expansion*