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

<b><i>Background:</i></b> A missense mutation of the <i>THAP1</i> 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. <b><i>Objective:</i></b> To describe a patient with DYT6 dystonia who underwent thalamic ventral lateral anterior (VLa) nucleus DBS. <b><i>Patient:</i></b> 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 <i>THAP1</i> gene. Because his dystonic symptoms were refractory to pharmacotherapy and pallidal DBS, he underwent thalamic VLa DBS. <b><i>Results:</i></b> 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%. <b><i>Conclusions:</i></b> The thalamic VLa nucleus could serve as an alternative target in DBS therapy for DYT6 dystonia.

<b><i>背景：</i></b> <i>THAP1</i>基因（THAP1）的错义突变可引发DYT6型原发性肌张力障碍。尽管内苍白球（internal globus pallidus, GPi）脑深部电刺激（deep brain stimulation, DBS）对原发性肌张力障碍疗效确切，但近期研究显示，GPi-DBS对DYT6型肌张力障碍仅具有轻度治疗效果。<b><i>目的：</i></b> 报道1例接受丘脑腹前外侧核（thalamic ventral lateral anterior nucleus, VLa）脑深部电刺激治疗的DYT6型肌张力障碍患者。<b><i>病例资料：</i></b> 一名35岁日本男性患者自15岁起便出现上肢肌张力障碍及痉挛性发音障碍，其肌张力障碍症状逐渐进展为全身性肌张力障碍。经基因检测确诊，该患者因<i>THAP1</i>基因发生突变而罹患DYT6型肌张力障碍。由于其肌张力障碍症状对药物治疗及苍白球DBS均难治，遂接受丘脑VLa核脑深部电刺激手术。<b><i>结果：</i></b> 采用最优参数设置的双侧丘脑VLa核持续电刺激，显著改善了患者的肌张力障碍症状。在随访2年时，其伯克-法恩-马斯登肌张力障碍评定量表（Burke-Fahn-Marsden Dystonia Rating Scale）总分从71分降至11分，症状改善幅度超过80%。<b><i>结论：</i></b> 丘脑腹前外侧核可作为DYT6型肌张力障碍脑深部电刺激治疗的备选靶点。