文章基本信息

标题：Greater improvement in LRRK2 G2019S patients undergoing Subthalamic Nucleus Deep Brain Stimulation compared to non-mutation carriers
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作者：Massiva Sayad ; Mohamed Zouambia ; Malika Chaouch 等
期刊名称：BMC Neuroscience
印刷版ISSN：1471-2202
电子版ISSN：1471-2202
出版年度：2016
卷号：17
期号：1
页码：1
DOI：10.1186/s12868-016-0240-4
语种：English
出版社：BioMed Central
摘要：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.
关键词：Subthalamic Nucleus Deep Brain Stimulation (STN-DBS) ; Parkinson’s disease (PD) ; LRRK2 (Leucine-rich repeat kinase 2) G2019S gene mutations ; Mutation carrier (MC) ; Non-carriers (NC) ; Multiple correspondence analysis (MCA) ; Mini Mental State Examination (MMSE) ; Unified parkinson’s disease rating scale III (UPDRS-III) ; Schwab and England’s activities of daily living scale (S and E scale) ; Hoehn and Yahr scale (H and Y scale)