Srivatsal Sindhu, Cholerton Brenna, Leverenz James B, Wszolek Zbigniew K, Uitti Ryan J, Dickson Dennis W, Weintraub Daniel, Trojanowski John Q, Van Deerlin Vivianna M, Quinn Joseph F, Chung Kathryn A, Peterson Amie L, Factor Stewart A, Wood-Siverio Cathy, Goldman Jennifer G, Stebbins Glenn T, Bernard Bryan, Ritz Beate, Rausch Rebecca, Espay Alberto J, Revilla Fredy J, Devoto Johnna, Rosenthal Liana S, Dawson Ted M, Albert Marilyn S, Mata Ignacio F, Hu Shu-Ching, Montine Kathleen S, Johnson Catherine, Montine Thomas J, Edwards Karen L, Zhang Jing, Zabetian Cyrus P
Virginia Mason Neuroscience Institute, Seattle, Washington, USA.
Mov Disord. 2015 Apr 15;30(5):728-33. doi: 10.1002/mds.26161. Epub 2015 Feb 4.
Increasing evidence suggests that genetic factors play a role in the variability associated with cognitive performance in Parkinson's disease (PD). Mutations in the LRRK2 gene are the most common cause of monogenic PD; however, the cognitive profile of LRRK2-related PD is not well-characterized.
A cohort of 1,447 PD patients enrolled in the PD Cognitive Genetics Consortium was screened for LRRK2 mutations and completed detailed cognitive testing. Associations between mutation carrier status and cognitive test scores were assessed using linear regression models.
LRRK2 mutation carriers (n = 29) demonstrated better performance on the Mini Mental State Examination (P = 0.03) and the Letter-Number Sequencing Test (P = 0.005). A smaller proportion of LRRK2 carriers were demented (P = 0.03).
Our cross-sectional study demonstrates better performance on certain cognitive tests, as well as lower rates of dementia in LRRK2-related PD. Future longitudinal studies are needed to determine whether LRRK2 mutation carriers exhibit slower cognitive decline. © 2015 International Parkinson and Movement Disorder Society.
越来越多的证据表明，遗传因素在帕金森病（PD）认知功能的变异性中发挥作用。LRRK2基因突变是单基因帕金森病最常见的病因；然而，LRRK2相关帕金森病的认知特征尚未得到充分描述。
对帕金森病认知遗传学联盟招募的1447名帕金森病患者进行队列研究，筛查LRRK2基因突变，并完成详细的认知测试。使用线性回归模型评估突变携带者状态与认知测试分数之间的关联。
LRRK2突变携带者（n = 29）在简易精神状态检查表（P = 0.03）和字母数字排序测试（P = 0.005）中表现更好。LRRK2携带者中痴呆的比例较小（P = 0.03）。
我们的横断面研究表明，LRRK2相关帕金森病患者在某些认知测试中表现更好，痴呆发生率更低。未来需要进行纵向研究，以确定LRRK2突变携带者的认知衰退是否更慢。© 2015国际帕金森病和运动障碍协会。
