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Huntington’s disease: diagnosis and management
  1. Thomas B Stoker1,
  2. Sarah L Mason1,
  3. Julia C Greenland1,
  4. Simon T Holden2,
  5. Helen Santini3,
  6. Roger A Barker1,4
  1. 1John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK
  2. 2Department of Clinical Genetics, Addenbrooke’s Hospital, Cambridge, UK
  3. 3Huntington Disease Association, Liverpool, UK
  4. 4Wellcome Trust Medical Research Council - Cambridge Stem Cell Institute, Cambridge, UK
  1. Correspondence to Dr Thomas B Stoker, Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 1TN, UK; tbs26{at}cantab.net

Abstract

Huntington’s disease (HD) is an inherited neurodegenerative disease characterised by neuropsychiatric symptoms, a movement disorder (most commonly choreiform) and progressive cognitive impairment. The diagnosis is usually confirmed through identification of an increased CAG repeat length in the huntingtin gene in a patient with clinical features of the condition. Though diagnosis is usually straightforward, unusual presentations can occur, and it can be difficult to know when someone has transitioned from being an asymptomatic carrier into the disease state. This has become increasingly important recently, with several putative disease-modifying therapies entering trials. A growing number of conditions can mimic HD, including rare genetic causes, which must be considered in the event of a negative HD genetic test. Patients are best managed in specialist multidisciplinary clinics, including when considering genetic testing. Current treatments are symptomatic, and largely directed at the chorea and neurobehavioural problems, although supporting trial evidence for these is often limited.

  • genetics
  • huntington-s
  • movement disorders

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Footnotes

  • Contributors TBS wrote the first draft of the review. SLM, JCG, STH, HS and RAB reviewed and revised the manuscript.

  • Funding The authors acknowledge financial support from the following organisations: Huntington’s Disease Association, National Institute for Health Research (NF-SI-0616-10011), NIHR Cambridge Biomedical Research Centre (BRC-1215-20014).

  • Competing interests None declared.

  • Provenance and peer review Commissioned. Externally peer reviewed by Anne Rosser, Cardiff, UK.

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