{"title":"Bi-pallidal deep brain stimulation as an effective therapy in atypical two-stage evolution adult-onset KMT2B-related dystonia","authors":"Georges-Junior Kahwagi , Cécile Hubsch , Lydie Burglen , Jean-Philippe Brandel , Sophie Sangla , Clément Desjardins","doi":"10.1016/j.prdoa.2025.100314","DOIUrl":null,"url":null,"abstract":"<div><div>We report an adult-onset KMT2B-related dystonia with a two-stage evolution: focal cervical onset followed by rapid generalization. Whole genome sequencing identified a likely pathogenic KMT2B variant. Bi-pallidal deep brain stimulation led to an 83% motor improvement, highlighting its therapeutic potential in late-onset atypical two-stage evolution<!--> <!-->KMT2B-dystonia.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100314"},"PeriodicalIF":1.8000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Parkinsonism Related Disorders","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2590112525000180","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/3/5 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
We report an adult-onset KMT2B-related dystonia with a two-stage evolution: focal cervical onset followed by rapid generalization. Whole genome sequencing identified a likely pathogenic KMT2B variant. Bi-pallidal deep brain stimulation led to an 83% motor improvement, highlighting its therapeutic potential in late-onset atypical two-stage evolution KMT2B-dystonia.
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