Clinical Review

Huntington’s disease

BMJ 2010; 340 doi: http://dx.doi.org/10.1136/bmj.c3109 (Published 30 June 2010) Cite this as: BMJ 2010;340:c3109
  1. Marianne J U Novak, clinical research fellow12,
  2. Sarah J Tabrizi, professor of clinical neurology, honorary consultant neurologist and neurogeneticist 13
  1. 1National Hospital for Neurology and Neurosurgery, London WC1N 3BG
  2. 2Wellcome Trust Centre for Neuroimaging, UCL Institute of Neurology, London WC1N 3BG
  3. 3Department of Neurodegenerative Disease, UCL Institute of Neurology
  1. Correspondence to: S Tabrizi sarah.tabrizi{at}prion.ucl.ac.uk
  • Accepted 8 April 2010

Summary points

  • Huntington’s disease causes motor, cognitive, and psychiatric impairment

  • Predictive and diagnostic genetic testing are available through specialist centres

  • Genetic testing for the disease has many implications for patients and families

  • The disease currently has no cure, but many therapeutic options exist to improve symptoms

  • Optimal care usually requires input from a multidisciplinary team

Huntington’s disease is a devastating inherited neurodegenerative disease characterised by progressive motor, cognitive, and psychiatric symptoms. Patients may present with any of these symptoms, and familiarity with the phenotype is therefore important. Chorea and loss of balance are early symptoms that patients notice, although families often notice cognitive or personality changes before this.

Sources and selection criteria

This review is based on our experience of leading (SJT) and working in (MJUN) the multidisciplinary Huntington’s disease clinic at the National Hospital for Neurology and Neurosurgery, supported by an up to date literature review performed using PubMed and a review of the Cochrane database.

The disease occurs in all racial groups but is most common in people of northern European origin. Its prevalence in the Western hemisphere is 7-10/100 000.w1 The mean age of onset of symptoms is 40 years, but juvenile onset (<20 years) and older onset (>70 years) forms are well recognised. The Huntington’s Disease Association (HDA) has records of 6161 adults with symptomatic Huntington’s disease and 541 children with juvenile Huntington’s disease (in England and Wales) at the time of writing. This is a conservative estimate of prevalence because it includes only those people in contact with the HDA, and it suggests that the true prevalence of the disease is higher than previously thought.1

Although relatively uncommon, Huntington’s disease can be devastating for patients and their families. People who are at risk of developing the disease because of a family history face difficult decisions about genetic testing. We review …

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