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


Journal Article

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 LRRK2 G2019S mutation in 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 mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent.

Full Text

Cited Authors

  • Pankratz, N; Pauciulo, MW; Elsaesser, VE; Marek, DK; Halter, CA; Rudolph, A; Shults, CW; Foroud, T; Nichols, WC; Parkinson Study Group-PROGENI Investigators,

Published Date

  • December 2006

Published In

Volume / Issue

  • 21 / 12

Start / End Page

  • 2257 - 2260

PubMed ID

  • 17078063

Pubmed Central ID

  • 17078063

Electronic International Standard Serial Number (EISSN)

  • 1531-8257

International Standard Serial Number (ISSN)

  • 0885-3185

Digital Object Identifier (DOI)

  • 10.1002/mds.21162


  • eng