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Genetics of Huntington's disease and related disorders

Jean-Marc Burgunder1

  • 1Swiss Huntington's Disease Centre, Department of Neurology, Department of Clinical Research, University of Bern, Switzerland; Department of Neurology, West China Hospital, Sichuan University, Chengdu, China; Xiangya Hospital, Central South University, Changsha, Sun Yat Sen University, Guangzhou, China.

Drug Discovery Today
|March 25, 2014
PubMed

Insights

Huntington's disease (HD) is a common hereditary chorea. Its complex symptoms, including cognitive and psychiatric issues, stem from a dynamic mutation influencing disease onset and severity.

Area of Science:

  • Neurogenetics
  • Movement Disorders
  • Neurology

Background:

  • Huntington's disease (HD) is the most prevalent hereditary chorea.
  • HD presents a complex phenotype, encompassing cognitive and psychiatric impairments.
  • The disorder arises from a dynamic mutation that also affects age of onset.

Purpose of the Study:

  • To review the genetic underpinnings of Huntington's disease.
  • To differentiate HD from other choreiform syndromes with distinct genetic bases.
  • To highlight the role of genetic factors in the diverse presentations of chorea.

Main Methods:

  • Literature review of genetic causes of chorea.
  • Comparative analysis of genetic syndromes presenting with chorea.
  • Summary of genetic mutations associated with HD and related disorders.

Main Results:

  • Huntington's disease is caused by a dynamic mutation.
  • Other hereditary choreas have different genetic origins, including chorein (choreoacanthocytosis), Kell protein (MacLeod syndrome), NKX-2-1 (benign hereditary chorea), and PRRT2 (paroxysmal kinesigenic dyskinesia).
  • Chorea can also manifest in spinocerebellar ataxias and neurometabolic disorders.

Conclusions:

  • Genetic factors play a crucial role in the pathogenesis of Huntington's disease and other choreiform disorders.
  • Accurate genetic diagnosis is essential for differentiating HD from other conditions with similar clinical presentations.
  • Understanding the genetic landscape of chorea aids in comprehending its diverse neurological manifestations.

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