Genetics of Parkinson's Disease

Semin Neurol. 2011 Nov;31(5):433-40. doi: 10.1055/s-0031-1299782. Epub 2012 Jan 21.


The identification of genes contributing to Parkinson's disease (PD) has allowed for an improved understanding of the underlying pathogenesis of the disorder. The authors review the rapidly growing field of PD genetics, with a focus on the clinical, genetic, and pathophysiologic features of well-validated monogenic forms of PD caused by mutations in the SNCA, LRRK2, PARKIN, PINK1, DJ-1, and ATP13A2 genes. In addition, they discuss mutations in the GBA gene, which increase susceptibility for PD. The authors also evaluate the implications of genome-wide association studies and stem cell-derived disease models and give recommendations for genetic testing.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Mutation
  • Parkinson Disease / genetics*
  • Parkinson Disease / physiopathology*