| Literature DB >> 22266881 |
Kishore R Kumar1, Ana Djarmati-Westenberger, Anne Grünewald.
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. © Thieme Medical Publishers.Entities:
Mesh:
Year: 2012 PMID: 22266881 DOI: 10.1055/s-0031-1299782
Source DB: PubMed Journal: Semin Neurol ISSN: 0271-8235 Impact factor: 3.420