Shu Li, Zhang Yuan, Pan Hongxu, Xu Qian, Guo Jifeng, Tang Beisha, Sun Qiying
Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
National Clinical Research Center for Geriatric Disorders, Changsha, China.
Front Aging Neurosci. 2018 Sep 19;10:283. doi: 10.3389/fnagi.2018.00283. eCollection 2018.
Parkinson's disease (PD) is one of the most common neurodegenerative diseases. Variants in the gene have been shown to be associated with PD. However, the clinical characteristics of -related PD are heterogeneous. In our study, we performed a comprehensive pooled analysis of the association between specific variants and clinical features of PD. Articles from the Medline, Embase, and Cochrane databases were included in the meta-analysis. Strict inclusion criteria were applied, and detailed information was extracted from the final original articles included. Revman 5.3 software was used for publication biases and pooled and sensitivity analyses. In all, 66 studies having the clinical manifestations of PD patients with G2019S, G2385R, R1628P, and R1441G were included for the final analysis. The prominent clinical features of G2019S-related PD patients were female sex, higher rates of early-onset PD (EOPD), and family history (OR: 0.77 [male], 1.37, 2.62; < 0.00001, 0.02, < 0.00001). PD patients with G2019S were more likely to have high scores of Schwab & England (MD: 1.49; < 0.00001), low GDS scores, high UPSIT scores (MD: 0.43, 4.70; = 0.01, < 0.00001), and good response to L-dopa (OR: 2.33; < 0.0001). Further, G2019S carriers had higher LEDD (MD: 115.20; < 0.00001) and were more likely to develop motor complications, such as dyskinesia and motor fluctuations (OR: 2.18, 2.02; < 0.00001, 0.04) than non-carriers. G2385R carriers were more likely to have family history (OR: 2.10; = 0.007) than non-G2385R carriers and lower H-Y and higher MMSE scores (MD: -0.13, 1.02; = 0.02, 0.0007). G2385R carriers had higher LEDD and tended to develop motor complications, such as motor fluctuations (MD: 53.22, OR: 3.17; = 0.01, < 0.00001) than non-carriers. Other clinical presentations did not feature G2019S or G2385R. We observed no distinct clinical features for R1628P or R1441G. Our subgroup analyses in different ethnic group for specific variant also presented with relevant clinical characteristics of PD patients. Clinical heterogeneity was observed among -associated PD in different variants in total and in different ethnic groups, especially for G2019S and G2385R.
帕金森病（PD）是最常见的神经退行性疾病之一。该基因的变异已被证明与帕金森病有关。然而，相关帕金森病的临床特征具有异质性。在我们的研究中，我们对特定变异与帕金森病临床特征之间的关联进行了全面的汇总分析。来自Medline、Embase和Cochrane数据库的文章被纳入荟萃分析。应用了严格的纳入标准，并从最终纳入的原始文章中提取了详细信息。使用Revman 5.3软件进行发表偏倚、汇总和敏感性分析。最终分析纳入了66项具有G2019S、G2385R、R1628P和R1441G帕金森病患者临床表现的研究。G2019S相关帕金森病患者的突出临床特征为女性、早发性帕金森病（EOPD）发病率较高和家族史（比值比：0.77[男性]，1.37，2.62；P<0.00001，0.02，<0.00001）。G2019S帕金森病患者更有可能具有较高的施瓦布&英格兰评分（平均差：1.49；P<0.00001）、较低的GDS评分、较高的UPSIT评分（平均差：0.43，4.70；P=0.01，<0.00001）以及对左旋多巴反应良好（比值比：2.33；P<0.0001）。此外，G2019S携带者的左旋多巴等效剂量（LEDD）较高（平均差：115.20；P<0.00001），并且比非携带者更有可能出现运动并发症，如运动障碍和运动波动（比值比：2.18，2.02；P<0.00001，0.04）。与非G2385R携带者相比，G2385R携带者更有可能有家族史（比值比：2.10；P=0.007），且H-Y评分较低、MMSE评分较高（平均差：-0.13，1.02；P=0.02，0.0007）。与非携带者相比，G2385R携带者的LEDD较高，并且倾向于出现运动并发症，如运动波动（平均差：53.22，比值比：3.17；P=0.01，<0.00001）。其他临床表现未显示G2019S或G2385R的特征。我们未观察到R1628P或R1441G有明显临床特征。我们针对特定变异在不同种族群体中的亚组分析也呈现了帕金森病患者的相关临床特征。在总体以及不同种族群体中，不同变异相关的帕金森病存在临床异质性，尤其是G2019S和G2385R。
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