학술논문
Analysis of LRRK2functional domains in nondominant Parkinson disease
Document Type
Article
Author
Source
Neurology (Ovid); October 2005, Vol. 65 Issue: 8 p1319-1321, 3p
Subject
Language
ISSN
00283878; 1526632X
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.