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Published on: November 21, 2013
Insights
Diagnosing adult chorea is complex. A detailed history is crucial, and C9orf72 gene mutations are a new consideration for neurodegenerative chorea after excluding Huntington disease.
Area of Science:
- Neurology
- Genetics
- Clinical Medicine
Background:
- Chorea is a hyperkinetic movement disorder with diverse etiologies.
- Huntington disease (HD) is a primary consideration in adult-onset chorea.
- Differentiating chorea requires a systematic clinical approach.
Purpose of the Study:
- To review the clinical diagnosis of adult chorea.
- To highlight diagnostic elements and management principles.
- To discuss chorea in the context of neurodegenerative syndromes.
Main Methods:
- Clinical review of diagnostic approaches to chorea.
- Emphasis on detailed patient history and associated findings.
- Integration of genetic testing considerations.
Main Results:
- C9orf72 gene mutations are a significant cause of Huntington disease phenocopies in white populations.
- Diagnosis of chorea is challenging due to multiple potential causes.
- No novel disease-modifying treatments for chorea or neurodegenerative choreic syndromes exist.
Conclusions:
- A thorough patient history is essential for diagnosing chorea.
- Consideration of C9orf72 gene mutations is recommended for neurodegenerative chorea, post-Huntington disease exclusion.
- Current treatments for chorea primarily involve symptomatic management with dopamine blockers or tetrabenazine.
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.
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