一家系3例PKAN患者DBS术后疗效异质性分析  

Efficacy heterogeneity analysis of 3 patients with pantothenate kinase associated neurodegeneration from one family after deep brain stimulation

作　　者：孙丽颖 周荣凇[1] 何乐[2] 张冷 潘科举 马羽[1] 苗素华[1] Sun Liying;Zhou Rongsong;He Le;Zhang Leng;Pan Keju;Ma Yu;Miao Suhua(Department of Neurosurgery,Yuquan Hospital of Tsinghua University(Hospital of Integrated Traditional Chinese and Western Medicine),Beijing 100049,China;Center for Biomedical Imaging,Tsinghua University,Beijing 100084,China)

机构地区：[1]清华大学玉泉医院(清华大学中西医结合医院)神经外科,北京100049 [2]清华大学生物医学影像研究中心,北京100084

出　　处：《中华神经医学杂志》2022年第9期924-928,共5页Chinese Journal of Neuromedicine

基　　金：北京市科技计划项目(Z211100003521006)。

摘　　要：目的探讨脑深部电刺激术(DBS)治疗泛酸激酶相关性神经变性病(PKAN)术后疗效异质性的原因。方法选择自2021年5月至8月于清华大学玉泉医院神经外科接受双侧丘脑底核(STN)-DBS的一家系3例PKAN患者进行研究,该3例患者具有相同PANK2基因突变。对3例患者的一般情况、病史、症状体征等临床表型以及DBS术前、术后2周、术后6个月Burke Fahn-Marsden肌张力障碍评估量表(BFMDRS)评分、表面肌电图检查结果等进行分析比较。结果3例患者的临床表型存在明显异质性:病例1发病年龄最晚,病程最短,主要表现为全身异常活动,强迫体位,无明显肢体变形,术前表面肌电图提示不自主肌肉收缩强度最小,以交替收缩放电活动模式为特征的不自主运动为主;病例2和病例3的发病年龄早,病程长,病情渐进性加重,表现为下肢跛行,肢体不自主扭转(病例3同时还有明显的肢体变形),术前表面肌电图提示不自主肌肉收缩强度大,以协同收缩放电活动模式为特征的扭转痉挛性肌张力障碍为主。DBS术后3例患者的BFMDRS评分、表面肌电图结果均较术前有明显改善,但也存在明显异质性,其中病例1~3术后6个月较术前的BFMDRS评分改善率分别为88.1%、60.5%、43.2%,表面肌电图改善率分别为82.36%、63.79%、72.25%。结论PKAN具有复杂的临床表型异质性,且是DBS术后疗效异质性的原因之一。Objective To investigate the reasons for efficacy heterogeneity analysis of 3 patients with pantothenate kinase associated neurodegeneration(PKAN)from one family after deep brain stimulation(DBS).Methods Three PKAN patients with the same PANK2 gene mutation from one family,admitted to and accepted bilateral subthalamic nucleus(STN)-DBS in our hospital from May to August 2021,were selected.The clinical manifestations,including general condition,medical history,symptoms,and signs,of these 3 patients were collected;Burkefahn-Marsden Dystonia Movement Rating Scale(BFMDRS)scores and surface electromyography results were analyzed and compared before DBS and 2 weeks and 6 months after DBS.Results The clinical phenotype of these 3 patients had obvious heterogeneity:patient 1 had the latest onset age and shortest duration,and the main manifestation included abnormal body activity and forced postures,without obvious body deformation;preoperative surface electromyography suggested that the involuntary muscle contractions intensity was the smallest,and involuntary movements characterized by alternating patterns of contractile discharge activity were the predominant.The patient 2 and patient 3 had early onset age and long course of disease with gradually aggravated disease,and manifested as lower limb claudication and involuntary limb torsion;patient 3 also had marked limb deformities;preoperative surface electromyography showed high intensity of involuntary muscle contraction and torsional spastic dystonia characterized by co-contractile firing activity.The BFMDRS scores and surface electromyography results of the 3 patients after DBS were significantly improved as compared with those before surgery,with obvious heterogeneity;the improvement rates of BFMDRS scores of patient 1,2 and 3 were 88.1%,60.5%,and 43.2%,and the improvement rates of surface electromyography were 82.36%,63.79%and 72.25%,respectively,at 6 months after surgery as compared with those before surgery.Conclusion PKAN exhibits complicated clinical heterogenei

关 键 词：泛酸激酶相关神经变性病 脑深部电刺激术 异质性 

分 类 号：R651.11[医药卫生—外科学]