期刊
NEUROSCIENCE LETTERS
卷 402, 期 1-2, 页码 92-96出版社
ELSEVIER IRELAND LTD
DOI: 10.1016/j.neulet.2006.03.044
关键词
Parkinson's disease; LRRK2 (leucine-rich repeat kinase 2); dementia; Ashkenazi Jews
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.
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