Non-motor Symptoms in Parkinson's Disease Patients with Parkin Mutations: More Depression and Less Executive Dysfunction
Non-motor Symptoms in Parkinson's Disease Patients with Parkin Mutations: More Depression and Less Executive Dysfunction
复制标题
帕金森氏病患者的帕金突变的非运动症状：更多的抑郁和更少的执行功能障碍。
DOI：
10.1007/s12031-019-01444-3
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发表时间：
2020-02-01
影响因子：
3.1
通讯作者：
Wang, Jian
中科院分区：
文献类型：
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作者：
Song, Jie;Shen, Bo;Wang, Jian
本研究的目的是确定遗传学未定义（GU）早发性帕金森病（EOPD）患者和帕金突变携带者在非运动症状（NMS）上的差异。EOPD患者（N = 261）接受帕金森病（PD）相关基因的靶向测序。其中，53例携带纯合或复合杂合Parkin突变（Parkin组），208例未携带已知的致病PD突变或GBA或Parkin杂合突变的危险因素（GU组）。通过面对面访谈、自我完成的问卷和神经心理电池的结果对NMS进行评估。应用线性回归和逻辑回归模型评估NMS的预测因素。Parkin患者的发病年龄（AOO）较低（p < 0.001），病程较长（p < 0.001），Hoehn和Yarh（H&Y）分级较低（p = 0.007）。神经心理成套测验结果显示，Parkin患者（p = 0.034）的连线测验（TMT）（B部分）时间短于GU患者。在调整AOO、疾病持续时间、H&Y和左旋多巴等效日剂量（LEDD）后，与GU组相比，帕金组的贝克抑郁量表（BDI）抑郁指数更高（p = 0.013），执行功能表现更好（p = 0.038）。在自主功能、睡眠-觉醒问题或认知功能的其他领域没有发现显着差异。我们的研究表明，帕金突变状态可能是一个很好的预测抑郁症的症状，而不影响执行功能。虽然这些发现需要在更大的群体中得到证实，但它们确定了筛查抑郁症的必要性。
The purpose of this study was to identify differences between genetically undefined (GU) early-onset Parkinson's disease (EOPD) patients and carriers of Parkin mutations on non-motor symptoms (NMSs). EOPD patients (N = 261) underwent targeted sequencing of Parkinson's disease (PD) related genes. Among them, 53 cases carried homozygous or compound heterozygous Parkin mutations (Parkin group) while 208 did not carry known causative PD mutations or risk factors of GBA or Parkin heterozygous mutations (GU group). NMSs were evaluated by face-to-face interviews, self-completed questionnaires and results on a neuropsychological battery. Linear regression and logistic regression models were applied to assess the predictors of NMSs. Parkin patients had younger ages of onset (AOO) (p < 0.001), longer disease durations (p < 0.001) and lower grades of Hoehn and Yarh (H&Y) (p = 0.007). Results on the neuropsychological battery showed a shorter time in Trail Making Test (TMT) (part B) in Parkin patients (p = 0.034) compared to GU patients. After adjusting for AOO, disease duration, H&Y, and levodopa equivalent daily dose (LEDD), there was a higher depression index on the Beck Depression Inventory (BDI) (p = 0.013) and better performance (p = 0.038) on executive function in the Parkin group compared to the GU group. No significant differences were found for autonomic functions, sleep-wake problems or other domains of cognitive function. Our study showed that the Parkin mutation status might be a good predictor of symptoms of depression without an impact on executive function. While these findings need to be confirmed in larger cohorts, they identify a need to screen for depression.Flow chart of genetic tests