期刊
JOURNAL OF THE NEUROLOGICAL SCIENCES
卷 251, 期 1-2, 页码 102-106出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.jns.2006.09.017
关键词
Parkinson disease; R1441C/G/H; G2019S; the leucine-rich repeat kinase 2 gene; mutation; Ashkenazi Jewish
资金
- NINDS NIH HHS [NS 043567, NS 40370] Funding Source: Medline
In addition to the G2019S mutation in the leucine-rich repeat kinase 2 gene (LRRK2), which is particularly frequent in patients of Ashkenazi Jewish and Northern African origin, three amino acid substitutions (R1441C, R1441G, and R1441H), all at the same residue (R 1441), have been identified as important genetic causes of Parkinson disease (PD). To evaluate the frequency of 81441 C/G/H and G2019S mutations in the LRRK2 gene in North American patients with PD and to explore genotype-phenotype correlations, we screened 496 PD patients from North America. One Hispanic female was heterozygous for the LRRK2 R 1441 G mutation, and six other cases including 2 nonJewish/non-Hispanic whites, 3 Ashkenazi Jewish, and 1 Hispanic, were found to be heterozygous for the LRRK2 G2019S mutation. G2019S mutation in the LRRK2 gene is a common mutation associated with PD in a North American population, especially in Jewish PD patients (10.7%), while the 81441 C/G/H mutation occurs at a relatively low frequency in North Americans except possibly in Hispanics for R1441G. All six G2019S carriers shared a common haplotype with that observed in Europeans and North Africans. The clinical features of all seven cases with LRRK2 mutation were quite broad and included early and late disease onset. These finding may provide new insights into the cause and diagnosis of PD and have implications for genetic counseling. (c) 2006 Elsevier B.V. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据