Huntington disease is an autosomal dominant neurodegenerative disorder.
Often presents in midlife but may appear at any age.
Clinical manifestations include chorea, cognitive decline, loss of coordination, and personality change.
Depression and suicide may be comorbid events.
In the absence of available effective treatment, many at-risk individuals forgo predictive genetic testing.
Huntington disease is a slowly progressive, neurodegenerative disorder characterized by chorea, incoordination, cognitive decline, personality changes, and psychiatric symptoms, culminating in immobility, mutism, and inanition. It is an autosomal dominant, trinucleotide repeat disorder that affects men and women equally. It characteristically appears in mid-adult life but can occur at any age. Treatment for depression, and to some degree behavioral problems and chorea, is possible. There are no disease-modifying therapies.
History and exam
- 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
- twitching or restlessness
- loss of coordination
- deficit in fine motor coordination
- slowed rapid (saccadic) eye movements
- motor impersistence
- impaired tandem walking
Sarah J. Tabrizi, MD, FRCP, PhD, FMedSci
Professor of Clinical Neurology
Honorary Consultant Neurologist
UCL Institute of Neurology
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.
Peter McColgan, MB ChB, MRCP
Wellcome Trust Clinical Research Fellow
UCL Institute of Neurology
PM declares that he has no competing interests.
David Craufurd, MB BS, MSc, FRCPsych
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
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.
Adrian Priesol, MD, FRCPC
Massachusetts Eye and Ear Infirmary
Harvard Medical School
AP declares that he has no competing interests.
Tiago Mestre, MD, MSc
Neurological Clinical Research Unit
Institute of Molecular Medicine
TM declares that he has no competing interests.
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