Cognitive profile of LRRK2-related Parkinson's disease.
Cognitive profile of LRRK2-related Parkinson's disease.
复制标题
DOI：
10.1002/mds.26161
复制
发表时间：
2015-04-15
影响因子：
8.6
通讯作者：
Zabetian, Cyrus P.
中科院分区：
文献类型：
--
作者：
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.
越来越多的证据表明，遗传因素在帕金森病 (PD) 认知表现相关变异中发挥着重要作用。 LRRK2 基因突变是单基因 PD 的最常见原因；然而，LRRK2 相关 PD 的认知特征尚不明确。对加入 PD 认知遗传学联盟的 1,447 名 PD 患者进行了 LRRK2 突变筛查并完成了详细的认知测试。使用线性回归模型评估突变携带者状态和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（P=0.03）和字母数字测序测试（P=0.005）中表现出更好的表现。较小比例的 LRRK2 携带者患有痴呆（P=0.03）。我们的横断面研究表明，LRRK2 相关的 PD 在某些认知测试中表现更好，并且痴呆症发生率更低。未来需要纵向研究来确定 LRRK2 突变携带者是否表现出较慢的认知衰退。
There is increasing evidence 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.
登录
查看更多内容
DOI：
10.3233/jpd-130189
发表时间：
2013
期刊：
Journal of Parkinson's disease
影响因子：
--
作者：
Cholerton BA;Zabetian CP;Quinn JF;Chung KA;Peterson A;Espay AJ;Revilla FJ;Devoto J;Watson GS;Hu SC;Edwards KL;Montine TJ;Leverenz JB
通讯作者：
Leverenz JB
影响因子：
29
作者：
Kalia, Lorraine V.;Lang, Anthony E.;Hazrati, Lili-Naz;Fujioka, Shinsuke;Wszolek, Zbigniew K.;Dickson, Dennis W.;Ross, Owen A.;Van Deerlin, Vivianna M.;Trojanowski, John Q.;Hurtig, Howard I.;Alcalay, Roy N.;Marder, Karen S.;Clark, Lorraine N.;Gaig, Carles;Tolosa, Eduardo;Ruiz-Martinez, Javier;Marti-Masso, Jose F.;Ferrer, Isidre;Lopez de Munain, Adolfo;Goldman, Samuel M.;Schuele, Birgitt;Langston, J. William;Aasly, Jan O.;Giordana, Maria T.;Bonifati, Vincenzo;Puschmann, Andreas;Canesi, Margherita;Pezzoli, Gianni;De Paula, Andre Maues;Hasegawa, Kazuko;Duyckaerts, Charles;Brice, Alexis;Stoessl, A. Jon;Marras, Connie
通讯作者：
Marras, Connie
影响因子：
29
作者：
Mata, Ignacio F.;Leverenz, James B.;Weintraub, Daniel;Trojanowski, John Q.;Hurtig, Howard I.;Van Deerlin, Vivianna M.;Ritz, Beate;Rausch, Rebecca;Rhodes, Shannon L.;Factor, Stewart A.;Wood-Siverio, Cathy;Quinn, Joseph F.;Chung, Kathryn A.;Peterson, Amie L.;Espay, Alberto J.;Revilla, Fredy J.;Devoto, Johnna;Hu, Shu-Ching;Cholerton, Brenna A.;Wan, Jia Y.;Montine, Thomas J.;Edwards, Karen L.;Zabetian, Cyrus P.
通讯作者：
Zabetian, Cyrus P.
影响因子：
9.9
作者：
Alcalay, R. N.;Caccappolo, E.;Marder, K.
通讯作者：
Marder, K.
DOI：
10.1080/13803390903521018
发表时间：
2010-01-01
影响因子：
2.2
作者：
Alcalay, Roy N.;Mejia-Santana, Helen;Caccappolo, Elise
通讯作者：
Caccappolo, Elise