The Genetics of Parkinson Disease

• Published in: Journal of geriatric psychiatry and neurology Vol. 23; no. 4; pp. 228 - 242
• Main Authors: Bekris, Lynn M., Mata, Ignacio F., Zabetian, Cyrus P.
• Format: Journal Article
• Language: English
• Published: Los Angeles, CA SAGE Publications 01-12-2010
• Subjects: Aging - genetics; Aging - psychology; alpha-Synuclein - genetics; Animals; Calcium-Binding Proteins; Carrier Proteins - genetics; Exons; Gene Expression; Genetic Predisposition to Disease; Genetic Variation; Glucosylceramidase - genetics; Humans; Incidence; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; Mutation; Parkinson Disease - diagnosis; Parkinson Disease - epidemiology; Parkinson Disease - genetics; Protein Kinases - genetics; Protein Serine-Threonine Kinases - genetics; Proton-Translocating ATPases - genetics; Repressor Proteins; Risk Factors; tau Proteins - genetics; Ubiquitin-Protein Ligases - classification; Ubiquitin-Protein Ligases - genetics; neurodegeneration; Parkinson disease; genetics
• ISSN: 0891-9887; 1552-5708
• DOI: 10.1177/0891988710383572

Parkinson disease (PD) is the second most common neurodegenerative disorder. In most instances, PD is thought to result from a complex interaction between multiple genetic and environmental factors, though rare monogenic forms of the disease do exist. Mutations in 6 genes (SNCA, LRRK2, PRKN, DJ1, PINK1, and ATP13A2) have conclusively been shown to cause familial parkinsonism. In addition, common variation in 3 genes (MAPT, LRRK2, and SNCA) and loss-of-function mutations in GBA have been well-validated as susceptibility factors for PD. The function of these genes and their contribution to PD pathogenesis remain to be fully elucidated. The prevalence, incidence, clinical manifestations, and genetic components of PD are discussed in this review.