A missense mutation (c.422G > T; p.Arg141Leu) in TMEM230 was first identified in a large pedigree from North American and three other mutations (c.551A > G, c.275A > G, and c.550_552delTAGinsCCCGGG) were also detected in other PD patients. Here, TMEM230 is linked to Parkinson disease.