Saunders-Pullman Rachel, Lipton Richard B, Senthil Geetha, Katz Mindy, Costan-Toth Camille, Derby Carol, Bressman Susan, Verghese Joe, Ozelius Laurie J
Department of Neurology, Albert Einstein College of Medicine, Bronx, NY, United States.
Neurosci Lett. 2006 Jul 10;402(1-2):92-6. doi: 10.1016/j.neulet.2006.03.044. Epub 2006 Apr 24.
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.
富含亮氨酸重复激酶2基因（LRRK2）的突变与特发性帕金森病（PD）以及多形性神经退行性病变（包括阿尔茨海默病）有关。一种特定的LRRK2突变，即G2019S，在18%的阿什肯纳兹裔帕金森病患者中被报道，这支持了该人群中的奠基者效应。为了确定这种突变是否也与阿什肯纳兹人中的痴呆症有关，我们在一项纵向衰老与认知研究中对192名老年阿什肯纳兹犹太（AJ）个体进行了筛查，其中49人（25.5%）患有痴呆症。两名非痴呆个体携带该突变（2/143，1.4%），但没有痴呆个体携带该突变。携带该突变的两人均未患帕金森病。因此，LRRK2突变在AJ人群中具有相对较高的频率，在老年人中对帕金森症的外显率不完全，且似乎与晚发性痴呆症通常无关。
