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[Chorea. Causes, diagnosis, and therapy]
C M Kosinski1, B Landwehrmeyer
1Neurologische Klinik, Universitätsklinikum, Pauwelsstrasse 30, 52074, Aachen, Germany. CKosinski@ukaachen.de
Insights
Diagnosing chorea involves identifying rare diseases, with Huntington's disease being the most common hereditary cause. Genetic testing confirms diagnosis, but effective treatments remain limited, necessitating research networks for improved patient care.
Area of Science:
- Neurology
- Genetics
- Rare Diseases
Context:
- Chorea diagnosis presents challenges due to numerous rare underlying conditions.
- Huntington's disease is the predominant cause of hereditary chorea.
- Current treatment options for chorea are limited and often associated with significant side effects.
Purpose:
- To provide clinical and laboratory diagnostic clues for differentiating chorea causes.
- To discuss the genetic confirmation and implications of predictive testing for Huntington's disease.
- To highlight the unmet need for disease-modifying therapies and the role of research networks.
Summary:
- This review outlines differential diagnoses for chorea, emphasizing clinical and laboratory findings.
- It details Huntington's disease, including its genetic basis, variable disease courses, and diagnostic confirmation.
- The limited therapeutic landscape and the establishment of the European Huntington's Disease Network for advancing clinical studies are discussed.
Impact:
- Aids clinicians in diagnosing complex chorea cases by suggesting relevant investigations.
- Informs patients and healthcare providers about the genetic aspects and predictive testing for Huntington's disease.
- Underscores the critical need for developing novel therapeutic strategies and collaborative research efforts.
Abstract:
The differential diagnosis of chorea includes a growing number of rare diseases. This article gives hints on clinical differences and possible laboratory investigations which may help to identify the underlying disease. The majority of hereditary chorea cases are caused by Huntington's disease. Different courses of disease can be distinguished depending on age at disease onset. The diagnosis can be confirmed genetically. Predictive testing is also possible but should be applied with caution only following internationally accepted guidelines. Our knowledge about treatment of chorea is limited, and studies have focused on the use of neuroleptics only. Their value is often outweighed by serious side effects. All efforts to find disease-modifying therapies for Huntington's disease had negative outcomes so far. To face these therapeutic limitations, the European Huntington's Disease Network was formed as a platform supporting the development and undertaking of clinical studies in Huntington's disease to improve care for these patients.
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