Gruber D, Kuhn A A, Schoenecker T, Kopp U A, Kivi A, Huebl J, Lobsien E, Mueller B, Schneider G-H, Kupsch A
Department of Neurology, Charité-University Medicine Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany,
J Neural Transm (Vienna). 2014 Oct;121(10):1303-12. doi: 10.1007/s00702-014-1201-7. Epub 2014 Apr 4.
Deep brain stimulation (DBS) represents an established treatment option in a growing number of movement disorders. Recent case reports suggest beneficial effect of globus pallidus internus (GPi)-DBS in selected patients suffering from Huntington's disease with marked disabling chorea. We present a 41-year-old man with genetically confirmed HD following quadruple GPi- and subthalamic nucleus (STN)-DBS. Motor function was assessed by Abnormal Involuntary Movement Scale (AIMS) and by Unified Huntington Disease Rating Scale (UHDRS) presurgery and postsurgery for up to 4 years. Furthermore, cognitive, neuropsychiatric state and quality of life (QoL) including life satisfaction (QLS) were annually evaluated. Chorea assessed by AIMS and UHDRS subscores improved by 52 and 55 %, 45 and 60 %, 35 and 45 % and 55-66 % at 1-4 years, respectively, compared to presurgical state following GPi-STN-DBS. During these time periods bradykinesia did not increase following separate STN- and combined GPi-STN-DBS compared to presurgical state. Mood, QoL and QLS were ameliorated. However, dysexecutive symptoms increased at 4 years postsurgery. The present case report suggests that bilateral GPi- and STN-DBS may represent a new treatment avenue in selected HD patients. Clinically, GPi-DBS attenuated chorea and was associated with a larger effect-adverse effect window compared to STN-DBS. However, GPi-DBS-induced bradykinesia may emerge as one main limitation of GPi-DBS in HD. Thus, quadruple GPi-STN-DBS may be indicated, if separate GPi-DBS does not result in sufficient control of motor symptoms. Future controlled studies need to confirm if the present anecdotal observation of additive beneficial effects of GPi- and STN-DBS in a HD patient with severe generalized chorea and relatively intact cognitive and affective functions indeed represents a new therapeutic option.
脑深部电刺激术（DBS）在越来越多的运动障碍疾病中已成为一种既定的治疗选择。近期的病例报告显示，内侧苍白球（GPi）-DBS对部分患有严重致残性舞蹈症的亨廷顿病患者具有有益效果。我们报告了一名41岁经基因确诊为亨廷顿病的男性患者，接受了双侧GPi和丘脑底核（STN）-DBS治疗。术前及术后长达4年，通过异常不自主运动量表（AIMS）和统一亨廷顿病评定量表（UHDRS）对其运动功能进行评估。此外，每年对认知、神经精神状态及生活质量（QoL）包括生活满意度（QLS）进行评估。与GPi-STN-DBS术前状态相比，术后1至4年，通过AIMS和UHDRS子评分评估的舞蹈症分别改善了52%和55%、45%和60%、35%和45%以及55%-66%。在这些时间段内，与术前状态相比，单独的STN-DBS以及联合的GPi-STN-DBS术后运动迟缓均未加重。情绪、QoL和QLS均有所改善。然而，术后4年执行功能障碍症状有所增加。本病例报告表明，双侧GPi和STN-DBS可能是部分亨廷顿病患者的一种新的治疗途径。临床上，与STN-DBS相比，GPi-DBS可减轻舞蹈症，且其疗效-不良反应窗口更大。然而，GPi-DBS诱发的运动迟缓可能成为其在亨廷顿病治疗中的一个主要局限。因此，如果单独的GPi-DBS不能充分控制运动症状，可能需要进行双侧GPi-STN-DBS治疗。未来的对照研究需要证实，对于一名患有严重全身性舞蹈症且认知和情感功能相对完好的亨廷顿病患者，GPi和STN-DBS联合使用所产生的附加有益效果这一目前的个案观察结果是否确实代表一种新的治疗选择。
