TY - JOUR
T1 - Genetics of Parkinson's disease
AU - Kumar, Kishore R.
AU - Djarmati-Westenberger, Ana
AU - Grünewald, Anne
PY - 2011/12/1
Y1 - 2011/12/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84856141837&partnerID=8YFLogxK
U2 - 10.1055/s-0031-1299782
DO - 10.1055/s-0031-1299782
M3 - Journal articles
C2 - 22266881
AN - SCOPUS:84856141837
SN - 0271-8235
VL - 31
SP - 433
EP - 440
JO - Seminars in Neurology
JF - Seminars in Neurology
IS - 5
ER -