Table_1_Case report: Unilateral GPi DBS in secondary myoclonus-dystonia syndrome after acute disseminated encephalomyelitis.DOCX

IntroductionDeep brain stimulation (DBS) is an established and effective therapy for movement disorders. Here, we present a case of secondary myoclonus-dystonia syndrome following acute disseminated encephalomyelitis (ADEM) in childhood, which was alleviated by DBS. Using a patient-specific connectome analysis, we sought to characterise the fibres and circuits affected by stimulation.Case reportWe report a case of a 20-year-old man with progressive dystonia, myoclonic jerks, and impaired concentration following childhood ADEM. Motor assessments utilising the Unified Myoclonus Rating Scale (UMRS) and the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) revealed a greater improvement in dystonia compared to myoclonus following adjustments of DBS parameters. These adjustments were based on visualisation of electrode position and volume of tissue activated (VTA) 3 years after surgery. A patient-specific connectome analysis using the VTA as a region of interest revealed fibre tracts connecting to the cerebello-thalamo-cortical network and the superior frontal gyrus in addition to basal ganglia circuits as particularly effective.ConclusionGlobus pallidus internus (GPi) DBS shows promise as a treatment for secondary myoclonus-dystonia syndromes. Personalised structural considerations, tailored to individual symptoms and clinical characteristics, can provide significant benefits. Patient-specific connectome analysis, specifically, offers insights into the structures involved and may enable a favourable treatment response.

深度脑刺激（DBS）作为治疗运动障碍的一种成熟且有效的治疗方法，已得到广泛认可。在本研究中，我们报告了一例儿童急性播散性脑脊髓炎（ADEM）后继发性肌阵挛-肌张力障碍综合征的病例，该病例经DBS治疗后症状得到缓解。通过患者特异性的连接组分析，我们旨在描述受刺激影响的纤维和回路。病例报告我们报道了一位20岁男性患者的病例，该患者在儿童时期ADEM后出现进行性肌张力障碍、肌阵挛性抽搐和注意力受损。运用统一肌阵挛评分量表（UMRS）和Burke-Fahn-Marsden肌张力障碍评分量表（BFMDRS）进行的运动评估显示，在调整DBS参数后，肌张力障碍的改善程度优于肌阵挛。这些调整是基于手术3年后电极位置的可视化和激活组织体积（VTA）。以VTA作为感兴趣区域的个性化连接组分析揭示了与cerebello-thalamo-cortical网络和额上回连接的纤维束，以及基底神经节回路特别有效。结论内囊苍白球内侧部（GPi）DBS在治疗继发性肌阵挛-肌张力障碍综合征方面展现出良好的前景。针对个体症状和临床特征的个性化结构考虑，能够带来显著的治疗效益。特别是患者特异性的连接组分析，能够洞察涉及的解剖结构，并可能促进治疗反应的优化。