非显性帕金森病中LRRK2功能域的分析

Analysis of LRRK2 functional domains in nondominant Parkinson disease.

作者信息

Skipper L, Shen H, Chua E, Bonnard C, Kolatkar P, Tan L C S, Jamora R D, Puvan K, Puong K Y, Zhao Y, Pavanni R, Wong M C, Yuen Y, Farrer M, Liu J J, Tan E K

机构信息

Department of Population Genetics, Genome Institute of Singapore, Singapore.

出版信息

Neurology. 2005 Oct 25;65(8):1319-21. doi: 10.1212/01.wnl.0000180517.70572.37.

DOI:10.1212/01.wnl.0000180517.70572.37

PMID:16247070

Abstract

A comprehensive sequence analysis of 29 exons that code for the functional domains of LRRK2 in 160 nondominant Parkinson disease (PD) patients was performed. Novel variant screening in a further 470 sporadic PD patients and 630 controls revealed two novel variants (R1067Q and IVS33 + 6 T>A), which are likely to be pathogenic in five patients. One patient presented initially with a typical essential tremor phenotype, expanding the phenotypic spectrum of LRRK2 mutations.

摘要

对160例非显性帕金森病（PD）患者中编码LRRK2功能域的29个外显子进行了全面的序列分析。在另外470例散发性PD患者和630例对照中进行的新变异筛查发现了两个新变异（R1067Q和IVS33 + 6 T>A），这两个变异在5例患者中可能具有致病性。一名患者最初表现为典型的特发性震颤表型，扩大了LRRK2突变的表型谱。