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首页> 外文期刊>The European Journal of Neuroscience >Intact working memory in non-manifesting LRRK2 carriers - an fMRI study
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Intact working memory in non-manifesting LRRK2 carriers - an fMRI study

机译：非表现性LRRK2携带者的完整工作记忆-fMRI研究

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摘要

Cognitive impairments are prevalent in patients with Parkinson's disease. Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are the most common cause of genetic Parkinsonism. Non-manifesting carriers of the G2019S mutation in the LRRK2 gene were found to have lower executive functions as measured by the Stroop task. This exploratory study aimed to assess whether the cognitive impairment in non-manifesting carriers is specific for executive functions or includes other cognitive domains such as working memory. We recruited 77 non-manifesting first-degree relatives of Parkinson's disease patients (38 carriers). A block-design fMRI N-back task, with 0-back, 2-back and 3-back conditions, was used in order to assess working memory. Participants were well matched on the Montreal Cognitive Assessment, University of Pennsylvania Smell Identification Test, Unified Parkinson's Disease Rating Scale part III, digit span, age, gender and Beck Depression Inventory. The task achieved the overall expected effect in both groups with longer reaction times and lower accuracy rates with increasing task demands. However, no whole-brain or region-of-interest between-groups differences were found on any of the task conditions. These results indicate that non-manifesting carriers of the G2019S mutation in the LRRK2 gene have a specific cognitive profile with executive functions, as assessed by the Stroop task, demonstrating significant impairment but with working memory, as assessed with the N-back task, remaining relatively intact. These finding shed light on the pre-motor cognitive changes in this unique 'at risk' population and should enable more focused cognitive assessments of these cohorts.
机译：认知障碍在帕金森氏病患者中普遍存在。富含亮氨酸的重复激酶2（LRRK2）基因中的突变是遗传性帕金森病的最常见原因。通过Stroop任务测量，发现LRRK2基因中G2019S突变的非表现载体具有较低的执行功能。这项探索性研究旨在评估非表现型携带者的认知障碍是特定于执行功能还是包括其他认知领域，例如工作记忆。我们招募了77名帕金森氏病患者的非表现型一级亲属（38名携带者）。为了评估工作记忆，使用了具有0-back，2-back和3-back条件的块设计fMRI N-back任务。参与者在蒙特利尔认知评估，宾夕法尼亚大学气味识别测试，统一帕金森氏疾病评分量表第III部分，数字跨度，年龄，性别和贝克抑郁量表上的匹配程度很高。随着任务需求的增加，任务在两组中都达到了总体预期效果，反应时间更长，准确率更低。但是，在任何任务条件下都没有发现全脑或感兴趣区域之间的差异。这些结果表明，LRRK2基因的G2019S突变的非表现携带者具有特定的认知特征，具有执行功能，如Stroop任务所评估，显示出明显的损伤，但具有工作记忆，如N-back任务所评估，其余相对完整。这些发现揭示了这种独特的“处于危险中”人群的运动前认知变化，并且应该能够对这些人群进行更集中的认知评估。

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