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Mutations in LRRK2 other than G2019S are rare in a north american–based sample of familial Parkinson's disease

✍ Scribed by Nathan Pankratz; Michael W. Pauciulo; Veronika E. Elsaesser; Diane K. Marek; Cheryl A. Halter; Alice Rudolph; Clifford W. Shults; Tatiana Foroud; William C. Nichols

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 64 KB
Volume: 21
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.21162

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✦ Synopsis

Abstract

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. © 2006 Movement Disorder Society

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