Mutations in LRRK2 other than G2019S are rare in a north American-based sample of familial Parkinson's disease. Mov Disord 2006 Dec;21(12):2257-60
Date
11/02/2006Pubmed ID
17078063DOI
10.1002/mds.21162Scopus ID
2-s2.0-33846463019 (requires institutional sign-in at Scopus site) 27 CitationsAbstract
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.
Author List
Pankratz N, Pauciulo MW, Elsaesser VE, Marek DK, Halter CA, Rudolph A, Shults CW, Foroud T, Nichols WC, Parkinson Study Group-PROGENI InvestigatorsAuthor
Karen A. Blindauer MD Chief, Professor in the Neurology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentAdult
Aged
Aged, 80 and over
Family Health
Female
Genetic Testing
Glycine
Humans
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
Male
Middle Aged
Mutation
North America
Parkinson Disease
Serine
