アカガワ　ヒロユキ   Akagawa Hiroyuki   赤川　浩之    所属   研究施設 研究施設    職種   准教授
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	Radiofrequency ablation for DYT-28 dystonia: short term follow-up of three adult cases.
掲載誌名	正式名：Annals of clinical and translational neurology 略　 称：Ann Clin Transl Neurol ISSNコード：23289503/23289503
掲載区分	国外
巻・号・頁	7(10),pp.2047-2051
著者・共著者	Horisawa Shiro†, Azuma Kenkou, Akagawa Hiroyuki, Nonaka Taku, Kawamata Takakazu, Taira Takaomi
発行年月	2020/10
概要	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.
DOI	10.1002/acn3.51170
PMID	32886413