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Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
Published on: December 10, 2021
Huntington's disease: a clinical review
1Department of Neurology K5Q112, LUMC PO Box 9600, 2300RC Leiden The Netherlands. r.a.c.roos@lumc.nl
Orphanet Journal of Rare Diseases
|December 22, 2010
Summary
Huntington disease (HD) is an inherited neurodegenerative disorder causing involuntary movements and cognitive decline. Diagnosis involves genetic testing, and while incurable, multidisciplinary care can manage symptoms and improve quality of life.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Huntington disease (HD) is a rare, autosomal dominant neurodegenerative disorder.
- Characterized by chorea, behavioral changes, psychiatric disturbances, and dementia.
- Onset typically between 30-50 years, with Juvenile Huntington's disease (JHD) starting before 20.
Purpose of the Study:
- To provide a comprehensive overview of Huntington disease.
- To detail diagnostic criteria, including genetic confirmation.
- To outline current management strategies and prognosis.
Main Methods:
- Diagnosis relies on clinical presentation and DNA testing confirming CAG repeat expansion in the Huntingtin gene.
- Pre-manifest and prenatal diagnostic options are available.
- Differential diagnoses are considered to rule out other causes of chorea.
Main Results:
- CAG repeat length correlates with earlier disease onset; >55 repeats are common in JHD.
- No cure exists; management focuses on symptomatic treatment.
- Disease progression leads to severe disability, dependency, and ultimately death, often from pneumonia or suicide.
Conclusions:
- HD is a progressive, fatal genetic disorder with no current cure.
- Multidisciplinary care is essential for managing symptoms and enhancing patient quality of life.
- Genetic counseling and testing are crucial for diagnosis and family planning.
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