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Genetics of synucleins in neurodegenerative diseases

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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.

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  1. Center for Neurodegenerative Science, Van Andel Institute, 333 Bostwick Ave. N.E., Grand Rapids, MI, 49503-2518, USA

    José Brás, Elizabeth Gibbons & Rita Guerreiro

  2. Division of Psychiatry and Behavioral Medicine, Michigan State University College of Human Medicine, Grand Rapids, MI, USA

    José Brás & Rita Guerreiro

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Brás, J., Gibbons, E. & Guerreiro, R. Genetics of synucleins in neurodegenerative diseases. Acta Neuropathol 141, 471–490 (2021). https://doi.org/10.1007/s00401-020-02202-1

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