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Genetic Forms of Parkinson's Disease

SEMINARS IN NEUROLOGY (2017)

期刊

SEMINARS IN NEUROLOGY

卷 37, 期 2, 页码 135-146

出版社

THIEME MEDICAL PUBL INC

DOI: 10.1055/s-0037-1601567

关键词

Parkinson's disease; genetics; LRRK2; SNCA; VPS35; Parkin; PINK1; DJ1; GBA

类别

Clinical Neurology

资金

Edmond J. Safra Fellowship in Movement Disorders through the Michael J. Fox Foundation for Parkinson's Research

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Protocol

Reagent

摘要

One of the greatest advances in Parkinson's disease (PD) research in the past two decades has been a better understanding of PD genetics. Of the many candidate genes investigated, the best studied include LRRK2, SNCA, VPS35, Parkin, PINK1, and DJ1. The authors review the key clinical features of these monogenic forms, as well as for the prevalent risk factor gene, GBA, including the phenotype, clinical course, and treatment response. They also outline areas for future investigation: longitudinal studies of PD's clinical course, the identification of its premotor manifestations, and its specific mechanisms of pathogenicity.

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