Summary
Definition
History and exam
Key diagnostic factors
- positive family history 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 partner/siblings
- changes in personal habits/hygiene
- disinhibition or unusually anxious behavior
- depression, obsessions, and compulsions
- sleep disturbance
Risk factors
- expansion of the CAG repeat length at the N-terminal end of the huntingtin gene
- other genetic factors
- family history
Diagnostic tests
1st tests to order
- no initial tests
Tests to consider
- genetic test for cytosine-adenine-guanine (CAG) repeat expansion
- MRI or CT scan
Treatment algorithm
all patients
Contributors
Authors
Mitsuko Nakajima, MD
Clinical Research Fellow
Huntington's Disease Centre
Queen Square
Institute of Neurology
Department of Neurodegenerative Disease
Russell Square House
London
UK
Disclosures
MN is funded by the clinical fellowship scheme from the Huntington's Disease Society of America, a nonprofit organization that funds research into Huntington disease. There is no contractual agreement to disseminate product information.
Acknowledgements
Dr Mitsuko Nakajima would like to gratefully acknowledge Dr Peter McColgan, Dr Sarah Tabrizi, Dr David Craufurd, Dr Marianne Novak, and Dr Francis Walker, previous contributors to this topic.
Disclosures
FW declared that he had no competing interests. MN is an author of a reference cited in this topic. DC has received fees for advisory board membership from Hoffmann-La Roche Ltd. SJT has received 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 Center, and the Wellcome Trust. 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 UCL, SJT has undertaken consultancy services for F. Hoffmann-La Roche Ltd and GSK. ST is also an author of references cited in this topic PM declared that he had no competing interests.
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.
References
Key articles
Bean L, Bayrak-Toydemir P; American College of Medical Genetics and Genomics. Standards and guidelines for clinical genetics laboratories, 2014 edition: technical standards and guidelines for Huntington disease. Genet Med. 2014 Dec;16(12):e2.Full text Abstract
Anderson KE, van Duijn E, Craufurd D, et al. Clinical management of neuropsychiatric symptoms of Huntington disease: expert-based consensus guidelines on agitation, anxiety, apathy, psychosis and sleep disorders. J Huntingtons Dis. 2018;7(3):355-66.Full text Abstract
Bachoud-Lévi AC, Ferreira J, Massart R, et al. International guidelines for the treatment of Huntington's disease. Front Neurol. 2019;10:710.Full text Abstract
Quinn L, Kegelmeyer D, Kloos A, et al. Clinical recommendations to guide physical therapy practice for Huntington disease. Neurology. 2020 Feb 4;94(5):217-28.Full text Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
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