应用脑深部电刺激术治疗KMT2B基因相关肌张力障碍的长期随访研究  

Long-term outcome of deep brain stimulation in KMT2B gene-related dystonia

作　　者：张梦雨[1] 王琳[1] 郭毅[2] 杨英麦[1] 乔雷[1] 万新华[1] Zhang Mengyu;Wang Lin;Guo Yi;Yang Yingmai;Qiao Lei;Wan Xinhua(Department of Neurology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences,Beijing 100730,China;Department of Neurosurgery,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医院神经科,北京100730 [2]中国医学科学院北京协和医院神经外科,北京100730

出　　处：《中华神经科杂志》2025年第3期269-276,共8页Chinese Journal of Neurology

摘　　要：目的探讨脑深部电刺激术对KMT2B基因相关肌张力障碍患者的长期治疗效果。方法收集2018年4月至2020年12月于北京协和医院就诊的7例KMT2B基因相关肌张力障碍患者,应用全外显子组测序方法对患者进行基因检测,归纳其基因变异及临床表型特点。对所有患者均行脑深部电刺激手术治疗,分别在术后6个月、术后3年、术后5年进行长期随访,采用Burke-Fahn-Marsden Dystonia Rating Scale(BFMDRS)的运动项目(BFMDRS-M)评分及功能障碍项目(BFMDRS-D)评分对患者的肌张力障碍情况及功能障碍进行评估,评价脑深部电刺激手术的治疗效果。结果患者术前的BFMDRS-M评分及BFMDRS-D评分分别为(60.43±27.12)分及(17.00±6.24)分;术后6个月时评分改善最为显著,分别为(20.64±5.50)分及(9.57±1.72)分,分别改善了65.8%及43.7%,差异均具有统计学意义(t=4.342,P=0.005;t=2.828,P=0.030);术后3年患者的BFMDRS-M及BFMDRS-D评分为(26.20±8.68)分及(10.50±2.74)分,分别改善了56.7%(t=3.045,P=0.029)和38.2%(t=2.012,P=0.100);术后5年患者的BFMDRS-M及BFMDRS-D评分为(27.80±14.87)分及(11.00±2.83)分,分别改善了54.0%(t=1.824,P=0.142)和35.3%(t=1.933,P=0.125)。术后5年时患者的颈部肌张力障碍改善了78.9%,上肢、下肢、躯干肌张力障碍分别改善了57.8%、56.6%及58.0%,但仅1例患者的语言功能得到显著改善。结论脑深部电刺激术对KMT2B基因相关肌张力障碍有良好的治疗效果,但随着时间进展疗效有所下降。患者的颈部、肢体及躯干肌张力障碍得到显著改善,但语言功能改善不明显。ObjectiveTo investigate the long-term outcome of deep brain stimulation(DBS)in patients with KMT2B gene-related dystonia.MethodsSeven patients with KMT2B gene-related dystonia who were treated at Peking Union Medical College Hospital from April 2018 to December 2020 were enrolled.Whole-exome sequencing was used to detect genetic variations,and clinical phenotypes were summarized.All patients underwent DBS surgery and were followed up at 6 months,3 years,and 5 years post-surgery.The therapeutic effects of DBS were evaluated by Burke-Fahn-Marsden Dystonia Rating Scale(BFMDRS),including BFMDRS Motor Subscale(BFMDRS-M)and Disability Subscale(BFMDRS-D).ResultsThe preoperative BFMDRS-M and BFMDRS-D scores were 60.43±27.12 and 17.00±6.24,respectively.The most significant improvements were observed at 6 months post-surgery,with the BFMDRS-M and BFMDRS-D scores being 20.64±5.50 and 9.57±1.72,reflecting improvements of 65.8%and 43.7%,respectively,both with statistically significant differences(t=4.342,P=0.005;t=2.828,P=0.030).At 3 years post-surgery,the BFMDRS-M and BFMDRS-D scores were 26.20±8.68 and 10.50±2.74,representing improvements of 56.7%(t=3.045,P=0.029)and 38.2%(t=2.012,P=0.100),respectively.At 5 years post-surgery,the BFMDRS-M and BFMDRS-D scores were 27.80±14.87 and 11.00±2.83,with improvements of 54.0%(t=1.824,P=0.142)and 35.3%(t=1.933,P=0.125),respectively.At the 5-year postoperative follow-up,the patients′cervical dystonia improved by 78.9%,while the upper limbs,lower limbs,and trunk dystonia improved by 57.8%,56.6%,and 58.0%,respectively.However,only 1 patient showed significant improvement in the language function.ConclusionsDBS showed good therapeutic effects on KMT2B gene-related dystonia,but the efficacy declined over time.Significant improvements were observed in patients′cervical,limb and trunk dystonia,but the improvement in language function was not significant.

关 键 词：深部脑刺激法 预后 KMT2B基因相关肌张力障碍 

分 类 号：R746[医药卫生—神经病学与精神病学]