Article
Somatic copy number gains of α-synuclein (SNCA) in Parkinson’s disease and multiple system atrophy brains
18 May 2018
Abstract excerpt
The α-synuclein protein, encoded by SNCA, has a key role in the pathogenesis of Parkinson's disease and other synucleinopathies. Although usually sporadic, Parkinson's disease can result from inherited copy number variants in SNCA and other genes. We have hypothesized a role of somatic SNCA mutations, leading to mosaicism, in sporadic synucleinopathies. The evidence for mosaicism in healthy and diseased brain is...
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