Article
A population scale analysis of rare SNCA variation in the UK Biobank.
Neurobiology of disease - 1 Jan 2021
Blauwendraat Cornelis, Makarious Mary B, Leonard Hampton L, Bandres-Ciga Sara, Iwaki Hirotaka, Nalls Mike A, Noyce Alastair J, Singleton Andrew B
Abstract excerpt
Parkinson's disease (PD) is a complex neurodegenerative disease with a variety of genetic and environmental factors contributing to disease. The SNCA gene encodes for the alpha-synuclein protein which plays a central role in PD, where aggregates of this protein are one of the pathological hallmarks of disease. Rare point mutations and copy number gains of the SNCA gene have been shown to cause autosomal dominant...
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