在以北美为基础的家族性帕金森病样本中，除G2019S外，LRRK2基因的其他突变很少见。

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

作者信息

Pankratz Nathan, Pauciulo Michael W, Elsaesser Veronika E, Marek Diane K, Halter Cheryl A, Rudolph Alice, Shults Clifford W, Foroud Tatiana, Nichols William C

机构信息

Indiana University Medical Center, Indianapolis, Indiana, USA.

出版信息

Mov Disord. 2006 Dec;21(12):2257-60. doi: 10.1002/mds.21162.

DOI:10.1002/mds.21162

PMID:17078063

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.

摘要

对来自430个多发型帕金森病（PD）家系的956名帕金森病患者进行筛查，以检测12种先前报道的致病性亮氨酸重复激酶2（LRRK2）突变：R793M、L1114L、I1371V、R1441C、R1441G、R1441H、Y1699C、M1869T、I2012T、I2020T、G2385R和IVS31+3G>A。先前的筛查在我们5%的家系中发现了LRRK2 G2019S突变。在我们的患者队列中，12种新筛查的突变中只有1种，即R1441C，在一个家系中被检测到。这些结果表明，虽然G2019S突变仍然是家族性PD患者中最常见的突变，但LRRK2中的其他突变并不常见。