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Huntington's disease: diagnosis and management
Thomas B Stoker1, Sarah L Mason2, Julia C Greenland2
1John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK tbs26@cantab.net.
Practical Neurology
|August 20, 2021
Summary
Huntington's disease (HD) diagnosis relies on genetic testing for CAG repeat length. Early identification is crucial for managing this inherited neurodegenerative disorder and considering new therapies.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Huntington's disease (HD) is an inherited neurodegenerative disorder.
- It presents with characteristic neuropsychiatric, motor (chorea), and cognitive symptoms.
- Diagnosis is typically confirmed by identifying expanded CAG repeat lengths in the huntingtin gene.
Purpose of the Study:
- To highlight the diagnostic criteria and challenges in Huntington's disease.
- To emphasize the importance of genetic testing and considering differential diagnoses.
- To discuss the management of HD patients, especially in the context of emerging therapies.
Main Methods:
- Review of diagnostic criteria for Huntington's disease.
- Genetic testing for CAG repeat expansion in the huntingtin gene.
- Clinical assessment of neuropsychiatric, motor, and cognitive symptoms.
Main Results:
- Standard diagnosis involves genetic confirmation of CAG repeat expansion.
- Challenges exist in distinguishing asymptomatic carriers from early disease states.
- Mimicking conditions necessitate consideration, particularly with negative genetic tests.
Conclusions:
- Accurate diagnosis of Huntington's disease is essential, especially with new therapies in development.
- Multidisciplinary specialist clinics are optimal for patient management and genetic testing.
- Current treatments are primarily symptomatic for chorea and behavioral issues, with limited trial support.
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