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DOI: 10.1055/s-0031-1299782
Genetics of Parkinson's Disease
Publikationsverlauf
Publikationsdatum:
21. Januar 2012 (online)
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ABSTRACT
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.
KEYWORDS
Parkinson's disease - genetics - monogenic - genome-wide association study - stem cells
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Anne GrünewaldPh.D.
Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lübeck
Ratzeburger Allee 160, Lübeck 23538, Germany
eMail: anne.gruenewald@neuro.uni-luebeck.de