Genetics of Synucleinopathies.

ABSTRACT: Parkinson's disease (PD), diffuse Lewy body disease (DLBD), and multiple system atrophy (MSA) constitute the three major neurodegenerative disorders referred to as synucleinopathies because both genetic and pathological results implicate the α-synuclein protein in their pathogenesis. PD and DLBD are recognized as closely related diseases with substantial clinical and pathological overlap. MSA, on the other hand, has a distinctive clinical presentation and neuropathological profile. In this review, we will summarize the evidence linking α-synuclein to these three disorders. Hundreds of patients with point or copy number mutations in the gene encoding α-synuclein, SNCA, have been reported in the literature in association with hereditary, autosomal dominant forms of PD, DLBD, or neurodegenera

SUBMITTER: Nussbaum RL 

PROVIDER: S-EPMC5983162 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature