Four novel rare mutations of PLA2G6 in Chinese population with Parkinson's disease

We identified four rare PLA2G6 mutations in 250 PD patients, enlarging the spectrum of PLA2G6 mutations in PD. Although PLA2G6 mutations account for only a small fraction of PD patients in Chinese populations, these mutations impair catalytic activity of their phospholipids-hydrolyzing function. These results indicate that PLA2G6 mutations maybe PD-causing in Chinese Han populations.