期刊
MOVEMENT DISORDERS
卷 25, 期 14, 页码 2340-2345出版社
WILEY
DOI: 10.1002/mds.23278
关键词
LRRK2; penetrance; Parkinson's disease; R1441G
资金
- Ilundain Fundazioa, Eusko Jaurlaritza (Osasun Saila) [2006111003]
- Fundacion de Investigacion Mutua Madrilena, Instituto de Salud Carlos III [PI070660]
- Centro de Investigacion Biomedica en Red sobre Enfermedades Neurodegenerativas (CIBERNED)
- Instituto de Salud Carlos III
- Saiotek (Basque Government-Biomarck II)
- CIBERNED
- Osakidetza
- Ilundain Fundazioa
- BIOEF
- FIS
- Saiotek
The LRRK2 R1441G mutation was first identified in Basque families and it is responsible for 46% of familial Parkinson's disease (PD) and for 2.5% of sporadic PD in the PD population of Basque ascent. The aim of this study was to determine LRRK2 R1441G penetrance in PD in the Basque Country (Spain) to help in a more accurate genetic counseling. A total of 59 sibships containing 244 individuals, with a total of 40 PD-affected relatives, were studied. Genetic testing for the R1441G mutation in the LRRK2 gene was performed in 133 individuals and was positive in 51% of them. Lifetime penetrance of R1441G mutations turned out to be 12.5% at 65 years to 83.4% at 80 years. No gender differences were found in penetrance. (C) 2010 Movement Disorder Society
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