Supplementary Material for: Deep Brain Stimulation of the Thalamic Ventral Lateral Anterior Nucleus for DYT6 Dystonia

Background: A missense mutation of the THAP1 gene results in DYT6 primary dystonia. While deep brain stimulation (DBS) of the internal globus pallidus (GPi) is effective in treating primary dystonia, recent reports indicate that GPi DBS is only mildly effective for DYT6 dystonia. Objective: To describe a patient with DYT6 dystonia who underwent thalamic ventral lateral anterior (VLa) nucleus DBS. Patient: A 35-year-old Japanese man had been experiencing upper limb dystonia and spasmodic dysphonia since the age of 15. His dystonic symptoms progressed to generalized dystonia. He was diagnosed as having DYT6 dystonia with mutations in the THAP1 gene. Because his dystonic symptoms were refractory to pharmacotherapy and pallidal DBS, he underwent thalamic VLa DBS. Results: Continuous bilateral VLa stimulation with optimal parameter settings ameliorated the patient's dystonic symptoms. At the 2-year follow-up, his Burke-Fahn-Marsden Dystonia Rating Scale total score decreased from 71 to 11, an improvement of more than 80%. Conclusions: The thalamic VLa nucleus could serve as an alternative target in DBS therapy for DYT6 dystonia.背景：THAP1基因的错义突变可导致DYT6型原发性肌张力障碍。尽管苍白球内侧部（internal globus pallidus, GPi）脑深部电刺激（deep brain stimulation, DBS）对原发性肌张力障碍具有确切疗效，但近期研究显示，GPi-DBS对DYT6型肌张力障碍仅存在轻度治疗效果。 研究目的：报道1例接受丘脑腹前外侧核（thalamic ventral lateral anterior, VLa）脑深部电刺激治疗的DYT6型肌张力障碍患者。 病例资料：患者为35岁日本男性，15岁起出现上肢肌张力障碍及痉挛性发音困难，后续症状进展为全身性肌张力障碍。经基因检测确诊为携带THAP1基因突变的DYT6型肌张力障碍。因患者的肌张力障碍症状对药物治疗及苍白球DBS均为难治性，遂接受丘脑VLa核脑深部电刺激治疗。 治疗结果：采用最优参数设置的双侧VLa核持续电刺激可改善患者的肌张力障碍症状。术后2年随访时，其Burke-Fahn-Marsden肌张力障碍评定量表（Burke-Fahn-Marsden Dystonia Rating Scale）总分由71分降至11分，症状改善幅度超过80%。 结论：丘脑VLa核可作为DYT6型肌张力障碍患者脑深部电刺激治疗的备选靶点。