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Review
. 2021 Apr;141(4):471-490.
doi: 10.1007/s00401-020-02202-1. Epub 2020 Aug 1.

Genetics of synucleins in neurodegenerative diseases

José Brás  1   2 , Elizabeth Gibbons  3 , Rita Guerreiro  3   4
Affiliations
Review

Genetics of synucleins in neurodegenerative diseases

José Brás et al. Acta Neuropathol. 2021 Apr.

Abstract

The SNCA locus currently has an indisputable role in Parkinson's disease and other synucleinopathies. The role of genetic variability in the other members of the synuclein family (SNCB and SNCG) in disease is far less clear. In this review, we critically assess the pathogenicity, main characteristics, and roles of genetic variants in these genes reported to be causative of synucleinopathies. We also summarize the different association signals identified in the SNCA locus that have been associated with risk for disease. We take a bird's eye view of the variability currently reported in the general population for the three genes and use these data to infer on the potential relationship between each of the genes and human disease.

Keywords: Genetics; SNCA; SNCB; SNCG; Synuclein; Synucleinopathies.

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