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

被引：26

作者：

Pankratz, Nathan

Pauciulo, Michael W.

Elsaesser, Veronika E.

Marek, Diane K.

Halter, Cheryl A.

Rudolph, Alice

Shults, Clifford W.

Foroud, Tatiana

Nichols, William C.

机构：

[1] Cincinnati Childrens Hosp, Div Human Genet, Med Ctr, Cincinnati, OH 45229 USA

[2] Indiana Univ, Med Ctr, Indianapolis, IN USA

[3] Univ Rochester, Rochester, NY USA

[4] Univ Calif San Diego, La Jolla, CA 92093 USA

[5] VA San Diego Helathcare Syst, San Diego, CA USA

[6] Univ Cincinnati, Sch Med, Cincinnati, OH USA

来源：

MOVEMENT DISORDERS | 2006年 / 21卷 / 12期

关键词：

Parkinson's disease; LRRK2; mutation;

D O I：

10.1002/mds.21162

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. (C) 2006 Movement Disorder Society.

引用

页码：2257 / 2260

页数：4

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