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
Treatment algorithm
Contributors
Authors
Sarah J. Tabrizi, MD, FRCP, PhD, FMedSci
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.
Peter McColgan, MB ChB, MRCP
Wellcome Trust Clinical Research Fellow
UCL Institute of Neurology
London
UK
Disclosures
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
Manchester
UK
Disclosures
DC has received fees for advisory board membership from Hoffmann-La Roche Ltd.
Acknowledgements
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
Adrian Priesol, MD, FRCPC
Instructor
Massachusetts Eye and Ear Infirmary
Harvard Medical School
Boston
MA
Disclosures
AP declares that he has no competing interests.
Tiago Mestre, MD, MSc
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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