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Huntington disease: clinical, genetic, and social aspects
1Neurosciences Department, Park Nicollet Clinic, St. Louis Park, Minnesota 55426, USA.
Insights
Huntington disease (HD) is a genetic neurodegenerative disorder with motor, cognitive, and psychiatric symptoms. Researchers identified its cause as a trinucleotide repeat expansion, making HD a model for dominant neurogenetic disorders.
Area of Science:
- Neurogenetics
- Neurology
- Psychiatry
Background:
- Huntington disease (HD) is a complex neurodegenerative disorder affecting motor, cognitive, and psychiatric functions.
- It is characterized by a triad of clinical symptoms.
- HD serves as a key model for autosomal dominant neurogenetic disorders.
Purpose of the Study:
- To review the clinical, pathological, and genetic aspects of Huntington disease.
- To outline current research questions for the 21st century.
Main Methods:
- Review of clinical, pathological, and genetic data.
- Identification of the gene and mutation responsible for HD in 1993.
Main Results:
- HD is caused by a trinucleotide repeat expansion, a novel mutational mechanism.
- The gene and mutation responsible for HD were identified in 1993.
Conclusions:
- Huntington disease presents a unique model for studying autosomal dominant neurogenetic disorders.
- Further research is needed to address remaining questions in the 21st century.
Abstract:
Huntington disease (HD) is a fascinating neurodegenerative disorder whose features straddle the boundaries of psychiatry, neurology, and genetics. The clinical symptoms of HD consist of a triad of motor, cognitive, and psychiatric/behavioral disturbances. In 1993, the HD Collaborative Research Group identified the gene and the mutation responsible for HD. HD was one of the first neurodegenerative disorders discovered to be caused by a novel mutational mechanism known as trinucleotide repeat expansion. Since then, HD has been the model for autosomal dominant neurogenetic disorders. The clinical, pathological, and genetic aspects of the disease are reviewed and some of the questions that remain to be answered by researchers of the 21st century are outlined.