Last reviewed: November 2017
Last updated: November  2017

Summary

Definition

History and exam

Key diagnostic factors

  • positive FHx of Huntington disease
  • known expansion of the CAG repeat length at the N-terminal end of the huntingtin gene
  • impaired work or school performance
  • personality change
  • irritability and impulsivity
  • chorea
  • twitching or restlessness
  • loss of coordination
  • deficit in fine motor coordination
  • slowed rapid (saccadic) eye movements
  • motor impersistence
  • impaired tandem walking

Other diagnostic factors

  • concentration impairment/task anxiety or apathy
  • cognitive decline relative to spouse/siblings
  • changes in personal habits/hygiene
  • disinhibition or unusually anxious behavior
  • depression, obsessions, and compulsions

Risk factors

  • expansion of the CAG repeat length at the N-terminal end of the huntingtin gene
  • other genetic factors
  • family history

Diagnostic investigations

Investigations to consider

  • CAG repeat testing
  • MRI or CT scan
Full details

Treatment algorithm

ONGOING

Contributors

Authors VIEW ALL

Professor of Clinical Neurology

Honorary Consultant Neurologist

UCL Institute of Neurology

London

UK

Disclosures

SJT receives grant funding for her research from CHDI Foundation, the BBSRC, Dementia and Neurodegenerative Disease Network UK, European Huntington’s Disease Network, Huntington’s Disease Association of the UK, the Medical Research Council UK, Takeda Pharmaceuticals, the UCL/UCLH Biomedical Research Centre, and the Wellcome Trust. In the past year, SJT has been on advisory boards or had consultancies with F. Hoffmann-La Roche Ltd, Ixico Technologies, Shire Human Genetic Therapies, Takeda Pharmaceuticals International, and TEVA Pharmaceuticals. All honoraria for these consultancies and advisory boards were paid to UCL. Through the offices of UCL Consultants Ltd, a wholly owned subsidiary of University College London, SJT has undertaken consultancy services for F. Hoffmann-La Roche Ltd and GSK. ST is also an author of references cited in this topic.

Wellcome Trust Clinical Research Fellow

UCL Institute of Neurology

London

UK

Disclosures

PM declares that he has no competing interests.

Senior Lecturer in Neuropsychiatric Genetics

University of Manchester

Manchester Academic Health Sciences Centre and Central Manchester University Hospitals NHS Foundation Trust

St Mary's Hospital

Manchester

UK

Disclosures

DC has received fees for advisory board membership from Hoffmann-La Roche Ltd.

Dr Sarah Tabrizi, Dr Peter McColgan, and Dr David Craufurd would like to gratefully acknowledge Dr Marianne Novak and Dr Francis Walker, previous contributors to this monograph. FW declares that he has no competing interests. MN is author of a reference cited in this monograph.

Peer reviewers VIEW ALL

Instructor

Massachusetts Eye and Ear Infirmary

Harvard Medical School

Boston

MA

Disclosures

AP declares that he has no competing interests.

Resident Neurology

Neurological Clinical Research Unit

Institute of Molecular Medicine

Lisbon

Portugal

Disclosures

TM declares that he has no competing interests.

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