Huntington’s disease:a tutorial review
10.3969/j.issn.1002-0152.2015.10.002
- Author:
Jeanmarc BURGUNDER
- Publication Type:Journal Article
- From:
Chinese Journal of Nervous and Mental Diseases
2015;(10):583-591
- CountryChina
- Language:Chinese
-
Abstract:
Huntington’s disease is a rare auto?somal-dominant disorder, affecting people in middle age with motor, cognitive and psychiatric symptoms. The disease is due to a triplet repeat elongation in the Huntingtin gene, which leads to neuronal malfunction and degeneration through a number of different molec?ular pathways. Molecular genetic testing, which is per?formed after careful neurogenetic counselling, con?firms diagnosis. The treatment is symptomatic and needs to be tailored to the need of the patients and in?volve his relatives.
