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Semin Neurol 2011; 31(5): 433-440
DOI: 10.1055/s-0031-1299782
© Thieme Medical Publishers

Genetics of Parkinson's Disease

Kishore R. Kumar1 , 2 , Ana Djarmati-Westenberger1 , Anne Grünewald1
  • 1Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lübeck, Lübeck, Germany
  • 2Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, Sydney, New South Wales, Australia
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Publication History

Publication Date:
21 January 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

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