Lower cognitive performance in healthy G2019S LRRK2 mutation carriers.

Avner Thaler,Anat Mirelman,Tanya Gurevich,Ely S Simon,Avi Orrurtreger,Karen Marder,Susan B Bressman,Nir Giladi,Rachel Saunderspullman,Deborah Raymond,Laurie J Ozelius,Vicki Shanker,Mark Groves,Christina Palmese, Akhila Iyer,Jeannie Sotovalencia,Kaili Stanley,Marta San Luciano,Andres Deik,M Barrett,Jose Cabassa,Lawrence Severt,A Hunt,Naomi Lubarr,Rivka Sachdev,Joan Miravite,Sara Lewis,Lorraine N Clark,Roy N Alcalay,Stanley Fahn,Lucien Cote,Paul Greene,Cheryl Waters,Pietro Mazzoni,Blair Ford,Elan D Louis,Oren Levy,M X Tang,Brian C Rakitin, H Mejia, Ernest Roos, Martha Orbe Riley,Llency Rosado,Carol Moskowitz, Tsvyatko Dorovski, X Liu,Sergey Kisselev, Itsik Peer,Vladimir Vacic, Y Balash,Shabtai Hertzel,Ziv Gan Or,Anat Bar Shira, M Weiss, Hila Kobo,Noa Bregman,Meir Kestenbaum,Talma Hendler,Hedva Lehrman,Einat Even Sapir, Shiran Levy,Kira Yasinovsky, A Shkedy,Maayan Zelis

NEUROLOGY（2012）

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摘要

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. Neurology (R) 2012;79:1027-1032

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关键词

gene frequency,mutation,cognition,genotype,heterozygote

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