脑深部电刺激术治疗肌阵挛肌张力障碍综合征三例并文献复习
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摘要
目的观察脑深部电刺激术(DBS)治疗肌阵挛肌张力障碍综合征(myoclonus dystonia syndrome,MDS)的长期疗效。方法对3例MDS患者行DBS治疗,并进行术后随访。采用UMRS(unified myoclonus rating scale)肌阵挛量表和Burke-Fahn-Marsden肌张力障碍量表(Burke-Fahn-Marsden dystonia rating scale,BFMDRS)评价治疗效果并复习文献。结果本组患者采用丘脑腹外侧中间核DBS,开启刺激后,患者肌阵挛和肌张力障碍的症状均得到明显改善。1例患者因在术后第30个月开始出现新发部位的严重肌张力障碍,后加行双侧苍白球内侧部电刺激术。平均随访64.7个月,肌阵挛平均改善99.1%,肌张力障碍量表运动评分平均改善85.3%,功能障碍评分平均改善78.8%。经长期随访患者疗效稳定。结论 DBS对MDS有良好的治疗效果。
Objective To evaluate the long-term efficacy of bilateral deep brain stimulation(DBS)in patients with myoclonus-dystonia syndrome(MDS).Methods Three patients with medically intractable MDS underwent bilateral DBS,pre-and postoperative Unified Myoclonus Rating Scale(UMRS)and the Burke-FahnMarsden Dystonia Rating Scale(BFMDRS)were analyzed to evaluate the efficacy of DBS.Results Mean followup was 64.7 months.All the patient underwent bilateral ventral intermediate thalamus nucleus(Vim)DBS,which eliminated both myoclonus and dystonia.For one patient,because of worsening dystonia after initial improvement in symptoms,subsequent bilateral globus pallidus internus(GPi)DBS was offered.Overall,the mean improvement was 99.1%for myoclonus,85.3%for dystonia movement subscore and 78.8%for dystonia disability subscore at the last follow-up.Conclusions DBS can be an effective therapeutic option for MDS.
Objective To evaluate the long-term efficacy of bilateral deep brain stimulation(DBS)in patients with myoclonus-dystonia syndrome(MDS).Methods Three patients with medically intractable MDS underwent bilateral DBS,pre-and postoperative Unified Myoclonus Rating Scale(UMRS)and the Burke-FahnMarsden Dystonia Rating Scale(BFMDRS)were analyzed to evaluate the efficacy of DBS.Results Mean followup was 64.7 months.All the patient underwent bilateral ventral intermediate thalamus nucleus(Vim)DBS,which eliminated both myoclonus and dystonia.For one patient,because of worsening dystonia after initial improvement in symptoms,subsequent bilateral globus pallidus internus(GPi)DBS was offered.Overall,the mean improvement was 99.1%for myoclonus,85.3%for dystonia movement subscore and 78.8%for dystonia disability subscore at the last follow-up.Conclusions DBS can be an effective therapeutic option for MDS.
引文
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[11]Kuncel AM,Turner DA,Ozelius LJ,et al.Myoclonus and tremor response to thalamic deep brain stimulation parameters in a patient with inherited myoclonus-dystonia syndrome[J].Clin Neurol Neurosurg,2009,111(3):303-306.
[12]Trottenberg T,Meissner W,Kabus C,et al.Neurostimulation of the ventral intermediate thalamic nucleus in inherited myoclonusdystonia syndrome[J].Mov Disord,2001,16(4):769-771.
[13] Multani N, Moro E,Lang A,et al.Progression of neuropsychiatric and cognitive features due to exons 2to 5deletion in the epsilon-sarcoglycan gene:a case report[J].Neurocase,2016,22(2):215-219.
[14]Oropilla JQ,Diesta CC,Itthimathin P,et al.Both thalamic and pallidal deep brain stimulation for myoclonic dystonia[J].J Neurosurg,2010,112(6):1267-1270.
[15]Rughani AI,Lozano AM.Surgical treatment of myoclonus dystonia syndrome[J].Mov Disord,2013,28(3):282-287.
[16]Asahi T, Koh M, Kashiwazaki D,et al.Stereotactic neurosurgery for writer's cramp:report of two cases with an overview of the literature[J].Stereotact Funct Neurosurg,2014,92(6):405-411.
[17]Hedera P,Phibbs FT,Dolhun R,et al.Surgical targets for dystonic tremor:considerations between the globus pallidus and ventral intermediate thalamic nucleus[J].Parkinsonism Relat Disord,2013,19(7):684-686.
[18] Mure H, Morigaki R,Koizumi H,et al.Deep brain stimulation of the thalamic ventral lateral anterior nucleus for DYT6dystonia[J].Stereotact Funct Neurosurg,2014,92(6):393-396.
[19]Wang JW,Li JP,Wang YP,et al.Deep brain stimulation for myoclonus-dystonia syndrome with double mutations in DYT1and DYT11[J].Sci Rep,2017,7:41042.
[2]Kinugawa K, Vidailhet M,Clot F,et al. Myoclonusdystonia:An update[J].Mov Disord,2009,24(4):479-489.
[3]中国医师协会神经外科医师分会功能神经外科专家委员会,中华医学会神经外科学分会功能神经外科学组,中国医师协会神经调控专业委员会,等.肌张力障碍脑深部电刺激疗法中国专家共识[J].中华神经外科杂志,2018,34(6):541-545.
[4]Asmus F,Zimprich A,Tezenas Du Montcel S,et al.Myoclonus-dystonia syndrome:epsilon-sarcoglycan mutations and phenotype[J].Ann Neurol,2002,52(4):489-492.
[5]Gasser T.Inherited myoclonus-dystonia syndrome[J].Adv Neurol,1998,78(94):325-334.
[6]Luciano AY,Jinnah HA,Pfeiffer RF,et al.Treatment of myoclonus-dystonia syndrome with tetrabenazine[J].Parkinsonism Relat Disord,2014,20(12):1423-1426.
[7]Foncke EM,Bour LJ,Speelman JD,et al.Local field potentials and oscillatory activity of the internal globus pallidus in myoclonus-dystonia[J].Mov Disord,2007,22(3):369-376.
[8]Liu X,Griffin IC,Parkin SG,et al.Involvement of the medial pallidum in focal myoclonic dystonia:A clinical and neurophysiological case study[J].Mov Disord,2002,17(2):346-353.
[9]Nitschke MF,Erdmann C,Trillenberg P,et al.Functional MRI reveals activation of a subcortical network in a 5-year-old girl with genetically confirmed myoclonus-dystonia[J].Neuropediatrics,2006,37(2):79-82.
[10]Gruber D,Kühn AA,Schoenecker T,et al.Pallidal and thalamic deep brain stimulation in myoclonus-dystonia[J].Mov Disord,2010,25(11):1733-1743.
[11]Kuncel AM,Turner DA,Ozelius LJ,et al.Myoclonus and tremor response to thalamic deep brain stimulation parameters in a patient with inherited myoclonus-dystonia syndrome[J].Clin Neurol Neurosurg,2009,111(3):303-306.
[12]Trottenberg T,Meissner W,Kabus C,et al.Neurostimulation of the ventral intermediate thalamic nucleus in inherited myoclonusdystonia syndrome[J].Mov Disord,2001,16(4):769-771.
[13] Multani N, Moro E,Lang A,et al.Progression of neuropsychiatric and cognitive features due to exons 2to 5deletion in the epsilon-sarcoglycan gene:a case report[J].Neurocase,2016,22(2):215-219.
[14]Oropilla JQ,Diesta CC,Itthimathin P,et al.Both thalamic and pallidal deep brain stimulation for myoclonic dystonia[J].J Neurosurg,2010,112(6):1267-1270.
[15]Rughani AI,Lozano AM.Surgical treatment of myoclonus dystonia syndrome[J].Mov Disord,2013,28(3):282-287.
[16]Asahi T, Koh M, Kashiwazaki D,et al.Stereotactic neurosurgery for writer's cramp:report of two cases with an overview of the literature[J].Stereotact Funct Neurosurg,2014,92(6):405-411.
[17]Hedera P,Phibbs FT,Dolhun R,et al.Surgical targets for dystonic tremor:considerations between the globus pallidus and ventral intermediate thalamic nucleus[J].Parkinsonism Relat Disord,2013,19(7):684-686.
[18] Mure H, Morigaki R,Koizumi H,et al.Deep brain stimulation of the thalamic ventral lateral anterior nucleus for DYT6dystonia[J].Stereotact Funct Neurosurg,2014,92(6):393-396.
[19]Wang JW,Li JP,Wang YP,et al.Deep brain stimulation for myoclonus-dystonia syndrome with double mutations in DYT1and DYT11[J].Sci Rep,2017,7:41042.