{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["7(10)"],"submitter":["Horisawa S"],"funding":["Brain Foundation"],"pubmed_abstract":["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."],"journal":["Annals of clinical and translational neurology"],"pagination":["2047-2051"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7545596"],"repository":["biostudies-literature"],"pubmed_title":["Radiofrequency ablation for DYT-28 dystonia: short term follow-up of three adult cases."],"pmcid":["PMC7545596"],"pubmed_authors":["Taira T","Kawamata T","Azuma K","Nonaka T","Akagawa H","Horisawa S"],"additional_accession":[]},"is_claimable":false,"name":"Radiofrequency ablation for DYT-28 dystonia: short term follow-up of three adult cases.","description":"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.","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Oct","modification":"2025-04-05T00:31:20.357Z","creation":"2025-04-05T00:31:20.357Z"},"accession":"S-EPMC7545596","cross_references":{"pubmed":["32886413"],"doi":["10.1002/acn3.51170"]}}