Increased frequency of the LRRK2 G2019S mutation in an elderly Ashkenazi Jewish population is not associated with dementia

被引:25
作者
Saunders-Pullman, Rachel [1 ]
Lipton, Richard B.
Senthil, Geetha
Katz, Mindy
Costan-Toth, Camille
Derby, Carol
Bressman, Susan
Verghese, Joe
Ozelius, Laurie J.
机构
[1] Albert Einstein Coll Med, Dept Neurol, Bronx, NY 10467 USA
[2] Albert Einstein Coll Med, Dept Epidemiol & Populat Hlth, Bronx, NY 10467 USA
[3] Albert Einstein Coll Med, Dept Psychiat & Behav Sci, Bronx, NY 10467 USA
[4] Albert Einstein Coll Med, Dept Mol Genet, Bronx, NY 10467 USA
[5] Beth Israel Deaconess Med Ctr, Dept Neurol, PACC, New York, NY 10003 USA
基金
美国国家卫生研究院;
关键词
Parkinson's disease; LRRK2 (leucine-rich repeat kinase 2); dementia; Ashkenazi Jews; AUTOSOMAL-DOMINANT PARKINSONISM; ALZHEIMERS-DISEASE; MEMORY IMPAIRMENT; COMMON FOUNDER; GENE; DIAGNOSIS; CRITERIA; ONSET; IDENTIFICATION; SCREEN;
D O I
10.1016/j.neulet.2006.03.044
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
Mutations in leucine-rich repeat kinase 2 gene (LRRK2) have been associated with idiopathic Parkinson's disease (PD), as well as pleomorphic neurodegenerative pathology, including Alzheimer's disease. One specific LRRK2 mutation, G2019S, was reported in 18% of people with PD of Ashkenazi descent, supporting a founder effect in this population. To determine if this mutation is also associated with dementia in the Ashkenazim, we screened 192 elderly Ashkenazi Jewish (AJ) individuals in a longitudinal aging and cognition study, of whom 49 (25.5%) had dementia. Two non-demented individuals harbored the mutation (2/143, 1.4%), but no individuals with dementia. Neither person with the mutation had Parkinson's disease. Therefore, the LRRK2 mutation has a relatively high frequency in the AJ population, is not fully penetrant for parkinsonism in the elderly, and does not appear to be commonly associated with late-onset dementia. (c) 2006 Elsevier Ireland Ltd. All rights reserved.
引用
收藏
页码:92 / 96
页数:5
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