丘脑底核深部脑刺激治疗亨廷顿病1例  

Subthalamic nucleus-deep brain stimulation for Huntington disease:a case report

作　　者：栗静[1] 李鑫[1] 王力群[1] 韩彦明[2] 武国德[1] LI Jing;LI Xin;WANGLiqun;HAN Yanming;WU Guode(Department of Neurosurgery,the Second Hospital of Lanzhou University,Lanzhou 730000,China)

机构地区：[1]兰州大学第二医院神经内科,兰州730000 [2]兰州大学第二医院神经外科

出　　处：《中国神经精神疾病杂志》2022年第3期155-158,共4页Chinese Journal of Nervous and Mental Diseases

摘　　要：报告1例50岁的女性患者,于1年前出现全身舞蹈样动作、四肢肌张力增高及共济失调表现,半年前出现记忆力下降及情绪异常。否认阳性家族史。神经系统体格检查可见全身不自主运动伴四肢肌张力增高,以及共济失调。颅脑MRI可见双侧尾状核及脑干、小脑萎缩,基因检测提示IT15基因CAG重复序列数为63,确诊为散发型亨廷顿病(Huntington disease,HD)。患者起初药物治疗有效,1个月后疗效减退,故对其采取了双侧丘脑底核(subthalamic nucleus,STN)-深部脑刺激(deep brain stimulation,DBS)治疗,并配合改善认知及情绪调节药物对症治疗。手术前后通过HD统一评定量表(unified Huntington disease rating scale,UHDRS)-运动评分对患者的运动功能进行评估并定期随访,其术前及术后2周、半年、1年的UHDRS-运动评分分别为65分、52分、34分、21分。术后1年,患者的舞蹈样动作明显减轻,肌张力增高及共济失调表现部分改善,运动功能恢复良好。本研究初步证实STN-DBS治疗HD的疗效,STN有望成为DBS治疗HD的有效靶点。Herein we reported a case of a 50-year-old female patient who developed systemic choreic movement,increased muscle tone in her extremities,with ataxia 1 year ago and memory impairment with mood abnormalities 6 months ago.The patient denied a positive family history.The physical examination showed involuntary movement,increased muscle tone in her extremities,and ataxia.The cranial MR showed bilateral caudate nucleus,brainstem and cerebellum atrophy.The CAG repeat number of IT15 gene was 63.She was diagnosed as sporadic Huntington disease(HD).The patient initially responded to drug therapy,but the response declined after 1 month.Therefore,the patient was treated with bilateral subthalamic nucleus(STN)-deep brain stimulation(DBS),combined with symptomatic treatment with drugs to improve cognition and regulate emotion.The patient’s motor function was assessed by the unified Huntington disease rating scale(UHDRS)-motor assessment before and after surgery and regular follow-up.The UHDRS-motor scores were65,52,34 and 21 respectively before surgery and 2 weeks,6 months and 1 year after surgery.One year after the surgery,the choreic movement was significantly reduced,and the muscular tension and ataxia were partially improved,indicating a good recovery of motor function.This preliminary study confirmed the efficacy of STN-DBS in the treatment of HD and STN may become an effective target for DBS in the treatment of HD.

关 键 词：亨廷顿病 深部脑刺激 丘脑底核 苍白球内侧核 

分 类 号：R742.2[医药卫生—神经病学与精神病学]