Mutations in LRRK2 other than G2019S are rare in a north-American based sample of familial Parkinson's didease

A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G>A. Previous screening identified the LRRK2G2019S mutationin 5% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in our patient cohort. These results indicate that, although the G2019S mutationremains the most common mutationidentified in familial PD patients, other mutationsin LRRK2are infrequent. © 2006 Movement DisorderSociety