健康的 G2019S LRRK2 突变携带者认知能力下降。
Lower cognitive performance in healthy G2019S LRRK2 mutation carriers.
机构信息
Movement Disorders Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Israel.
出版信息
Neurology. 2012 Sep 4;79(10):1027-32. doi: 10.1212/WNL.0b013e3182684646. Epub 2012 Aug 22.
Abstract
OBJECTIVE
To assess cognitive abilities of healthy first-degree relatives of Ashkenazi patients with Parkinson disease (PD), carriers of the G2019S mutation in the LRRK2 gene.
METHODS
In this observational study, 60 consecutive healthy first-degree relatives (aged 50.9 ± 6.2 years; 48% male; 30 G2019S carriers) were assessed using a computerized cognitive program, the Montreal Cognitive Assessment questionnaire, the Unified Parkinson's Disease Rating Scale Part III, and the Geriatric Depression Scale.
RESULTS
G2019S carriers scored significantly lower on the computerized executive function index (p = 0.04) and on specific executive function tasks (Stroop test, p = 0.007).
CONCLUSION
Carrying the LRRK2 G2019S mutation was associated with lower executive performance in a population at risk for PD.
摘要
目的
评估携带 LRRK2 基因 G2019S 突变的阿什肯纳兹族帕金森病（PD）患者一级健康亲属的认知能力。
方法
在这项观察性研究中，使用计算机认知程序、蒙特利尔认知评估问卷、统一帕金森病评定量表第三部分和老年抑郁量表评估了 60 名连续的健康一级亲属（年龄 50.9 ± 6.2 岁；48%为男性；30 名 G2019S 携带者）。
结果
G2019S 携带者在计算机执行功能指数（p = 0.04）和特定执行功能任务（Stroop 测试，p = 0.007）上的得分明显较低。
结论
携带 LRRK2 G2019S 突变与 PD 风险人群的执行功能下降有关。
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