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- W4210402511 abstract "Huntington disease is a monogenic neurodegenerative disorder that displays an autosomal-dominant pattern of inheritance. It is characterized by motor, psychiatric, and cognitive symptoms that progress over 15-20 years. Since the identification of the causative genetic mutation in 1993 much has been discovered about the underlying pathogenic mechanisms, but as yet there are no disease-modifying therapies available. This chapter reviews the epidemiology, genetic basis, pathogenesis, presentation, and clinical management of Huntington disease. The principles of genetic testing are explained. We also describe recent developments in the ongoing search for therapeutics and for biomarkers to track disease progression." @default.
- W4210402511 created "2022-02-08" @default.
- W4210402511 creator A5027202082 @default.
- W4210402511 creator A5041885603 @default.
- W4210402511 date "2018-01-01" @default.
- W4210402511 modified "2023-09-30" @default.
- W4210402511 title "Huntington disease" @default.
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