Article
Interrupting sequence variants and age of onset in Huntington's disease: clinical implications and emerging therapies.
The Lancet. Neurology - 1 Nov 2020
Wright Galen E B, Black Hailey Findlay, Collins Jennifer A, Gall-Duncan Terence, Caron Nicholas S, Pearson Christopher E, Hayden Michael R
Abstract excerpt
BACKGROUND: Huntington's disease is a fatal neurodegenerative disorder that is caused by CAG-CAA repeat expansion, encoding polyglutamine, in the huntingtin (HTT) gene. Current age-of-clinical-onset prediction models for Huntington's disease are based on polyglutamine length and explain only a proportion of the variability in age of onset observed between patients. These length-based assays do not interrogate the...
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