Tiago A. Mestre, MSc, MD Movement Disorders p. 1186-1207 August 2016, Vol.22, No.4 doi: 10.1212/CON.0000000000000349
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Purpose of Review: This article reviews the clinical approach to the diagnosis of adult patients presenting with chorea, using Huntington disease (HD) as a point of reference, and presents the clinical elements that help in the diagnostic workup. Principles of management for chorea and some of the associated features of other choreic syndromes are also described.

Recent Findings: Mutations in the C9orf72 gene, previously identified in families with a history of frontotemporal dementia, amyotrophic lateral sclerosis, or both, have been recognized as one of the most prevalent causes of HD phenocopies in the white population.

Summary: The diagnosis of chorea in adult patients is challenging. A varied number of associated causes require a physician to prioritize the investigations, and a detailed history of chorea and associated findings will help. For chorea presenting as part of a neurodegenerative syndrome, the consideration of a mutation in the C9orf72 gene is a new recommendation after excluding HD. There are no new treatment options for chorea, aside from dopamine blockers and tetrabenazine. There are no disease-modifying treatments for HD or other neurodegenerative choreic syndromes.

Address correspondence to Dr Tiago A. Mestre, Parkinson’s Disease and Movement Disorders Centre, Civic Campus, The Ottawa Hospital, 1053 Carling Ave, Rm 2174, Ottawa, ON K1Y 4E9, Canada, [email protected].

Relationship Disclosure: Dr Mestre receives personal compensation for serving on the scientific advisory board of AbbVie, for speaking engagements for Teva Pharmaceutical Industries Ltd, and for educational events for WebMD. Dr Mestre receives grant support from the Parkinson Study Group/Parkinson Disease Foundation.

Unlabeled Use of Products/Investigational Use Disclosure: Dr Mestre reports no disclosure.

Supplemental digital content: Videos accompanying this article are cited in the text as Supplemental Digital Content. Videos may be accessed by clicking on links provided in the HTML, PDF, and app versions of this article; the URLs are provided in the print version. Video legends begin on page 1204.

Copyright © 2016 by the American Academy of Neurology.