The clinical and genetic features of Huntington disease

J Geriatr Psychiatry Neurol. 2010 Dec;23(4):243-59. doi: 10.1177/0891988710383573. Epub 2010 Oct 5.


Huntington disease (HD) is a dominantly inherited neurodegenerative disorder that usually presents in adulthood with characteristic motor and cognitive features and with variable and diverse psychiatric disturbances. Following the discovery of the causative defect in the HTT gene in 1993, great advances in understanding the pathogenesis of HD have been made, yet no effective disease-modifying therapy has been identified. In this new era of HD research, we have seen the emergence of a number of large clinical trials, the systematic search for novel biomarkers and the recent initiation of the first pre-manifest HD clinical studies. In this review, we seek to provide an overview of the clinical and genetic features of HD together with a summary of clinical research at this time.

Publication types

  • Review

MeSH terms

  • Animals
  • Clinical Trials as Topic
  • Cognition*
  • Diagnosis, Differential
  • Disease Models, Animal
  • Genetic Counseling
  • Genotype
  • Humans
  • Huntingtin Protein
  • Huntington Disease / diagnosis
  • Huntington Disease / epidemiology
  • Huntington Disease / genetics*
  • Huntington Disease / pathology
  • Huntington Disease / psychology
  • Huntington Disease / therapy*
  • Movement*
  • Nerve Tissue Proteins / genetics*
  • Nuclear Proteins / genetics*
  • Prevalence
  • Severity of Illness Index
  • Trinucleotide Repeat Expansion / genetics*


  • HTT protein, human
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Nuclear Proteins