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与非突变携带者相比,接受丘脑底核深部脑刺激的LRRK2 G2019S患者有更大改善。

Greater improvement in LRRK2 G2019S patients undergoing Subthalamic Nucleus Deep Brain Stimulation compared to non-mutation carriers.

作者信息

Sayad Massiva, Zouambia Mohamed, Chaouch Malika, Ferrat Farida, Nebbal Mustapha, Bendini Mohamed, Lesage Suzanne, Brice Alexis, Brahim Errahmani Mohamed, Asselah Boualem

机构信息

Laboratory of Behavioral and Cognitive Neuroscience, FSB, University of Science and Technology Houari Boumediene, El Alia, Bab Ezzouar, BP 32, 16111, Algiers, Algeria.

Department of BPO, Faculty of SNV, Blida 1 University, BP 270, 09000, Blida, Algeria.

出版信息

BMC Neurosci. 2016 Feb 1;17:6. doi: 10.1186/s12868-016-0240-4.

Abstract

BACKGROUND

Bilateral subthalamic nucleus deep brain stimulation (STN-DBS) of parkinson's disease (PD) patients has demonstrated to improve motor performance and to reduce dopa-induced dyskinesia. An association between the occurrence of dyskinesias and LRRK2 (leucine-rich repeat kinase 2) G2019S gene mutations has recently been suggested. The aim of this study is to discover the impact of the G2019S mutation (with high incidence in the authors' native Algeria) on the symptom response of PD in patients who underwent STN-DBS.

METHODS

We carried out a comparative statistical study for the clinical evaluation and neuropsychological assessment of 27 Algerian PD STN-DBS patients, both G2019S mutation carriers (MC) and non-carriers (NC). A multiple correspondence analysis (MCA) was then conducted to compare the results with those from groups of individuals with similar modalities.

RESULTS

The MCA revealed that MC and NC PD patients showed two different patterns of clinical evaluations. The group of idiopathic patients showed some differences compared to the clinical evaluations, depending on gender. No association was found between the G2019S mutation and the Mini Mental State Examination scores (MMSE), and MC patients appeared more susceptible to dyskinesia than NC patients. In NC patients, we found two cases with Parkin mutations who had a different "honeymoon" period and different initial symptoms. The results showed considerable improvement of motor unified parkinson's disease rating scale III (UPDRS-III) in a situation of stimulation without medication in the MC patients with a percentage of improvement (51.1 %) over the required 30 % compared to the NC patients (25.5 %). The same result was observed for the Schwab and England's activities of daily living scale (S and E scale), which thus demonstrated a greater effectiveness of DBS for MC patients than for NC patients. However, the Hoehn and Yahr scale (H and Y Scale) showed the same significance in a situation of stimulation for MC and NC patients. In this later group, the best scores of UPDRS-III were observed for patients with the Parkin mutation before they underwent surgery.

CONCLUSIONS

This study shows that surgical treatment probably has a more significant impact on LRRK2 G2019S MC than on idiopathic patients.

摘要

背景

帕金森病(PD)患者双侧丘脑底核深部脑刺激(STN-DBS)已被证明可改善运动功能,并减少左旋多巴诱发的异动症。最近有人提出异动症的发生与富含亮氨酸重复激酶2(LRRK2)G2019S基因突变之间存在关联。本研究的目的是探究G2019S突变(在作者的祖国阿尔及利亚发病率较高)对接受STN-DBS治疗的PD患者症状反应的影响。

方法

我们对27例阿尔及利亚PD STN-DBS患者进行了比较统计研究,这些患者包括G2019S突变携带者(MC)和非携带者(NC),进行了临床评估和神经心理学评估。然后进行了多重对应分析(MCA),以将结果与具有相似模式的个体组的结果进行比较。

结果

MCA显示,MC和NC PD患者表现出两种不同的临床评估模式。特发性患者组与临床评估相比存在一些差异,具体取决于性别。未发现G2019S突变与简易精神状态检查表(MMSE)评分之间存在关联,并且MC患者比NC患者更容易出现异动症。在NC患者中,我们发现2例携带帕金基因突变的患者,他们有不同的“蜜月期”和不同的初始症状。结果显示,在无药物刺激的情况下,MC患者的帕金森病统一运动评分量表III(UPDRS-III)有显著改善,改善百分比(51.1%)超过所需的30%,而NC患者为(25.5%)。施瓦布和英格兰日常生活活动量表(S和E量表)也观察到相同的结果,这表明DBS对MC患者比对NC患者更有效。然而,霍恩和雅尔量表(H和Y量表)在MC和NC患者的刺激情况下显示出相同的显著性。在后者组中,术前携带帕金基因突变的患者的UPDRS-III得分最佳。

结论

本研究表明,手术治疗对LRRK2 G2019S MC患者的影响可能比对特发性患者的影响更大。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71de/4736184/ffc3384c207e/12868_2016_240_Fig1_HTML.jpg

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