Department of Neurosurgery, Tokyo Women's Medical University, Tokyo, Japan.
Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
Ann Clin Transl Neurol. 2020 Oct;7(10):2047-2051. doi: 10.1002/acn3.51170. Epub 2020 Sep 4.
Mutations in the lysine methyltransferase 2B (KMT2B) gene have recently been reported to be associated with childhood-onset generalized dystonia. There have been no studies investigating ablative treatments for the management of this disorder. Three patients underwent either a staged unilateral pallidotomy and contralateral pallidothalamic tractotomy (19-year-old man, 2-year follow-up), a unilateral pallidothalamic tractotomy (34-year-old man, 6-month follow-up) or a simultaneous unilateral pallidothalamic tractotomy and ventro-oral thalamotomy (29-year-old man, 6-month follow-up). The average total patient score on the Burke-Fahn-Marsden Dystonia Rating Scale-Movement Scale improved from 39.5 to 13.2 (66.6%) after the procedures. No significant complications were identified. Ablative treatments appear to be a promising alternative surgical option for generalized dystonia with KMT2B mutation.
赖氨酸甲基转移酶 2B（KMT2B）基因突变最近被报道与儿童期起病的全身性肌张力障碍有关。目前还没有研究调查消融治疗对这种疾病的管理。三名患者接受了分期单侧苍白球切开术和对侧苍白球丘脑束切开术（19 岁男性，2 年随访）、单侧苍白球丘脑束切开术（34 岁男性，6 个月随访）或同期单侧苍白球丘脑束切开术和腹侧口腔丘脑切开术（29 岁男性，6 个月随访）。在手术之后，Burke-Fahn-Marsden 肌张力障碍评定量表-运动量表的平均总分从 39.5 分改善至 13.2 分（66.6%）。未发现明显的并发症。消融治疗似乎是一种有前途的治疗选择，可用于治疗 KMT2B 突变导致的全身性肌张力障碍。
