{"title":"Long-term efficacy of deep brain stimulation in PLA2G6-related Parkinson’s disease: A case report with literature review","authors":"Takashi Tsuboi , Takashi Uematsu , Yoshiki Ito , Tomotaka Ishizaki , Satoshi Maesawa , Ryuta Saito , Hiroyo Yoshino , Nobutaka Hattori , Adolfo Ramirez-Zamora , Michael S. Okun , Masahisa Katsuno","doi":"10.1016/j.prdoa.2025.100377","DOIUrl":null,"url":null,"abstract":"<div><div>A patient with early-onset PARK14 and novel <em>PLA2G6</em> variants underwent globus pallidus internus deep brain stimulation, achieving sustained three-year motor and quality-of-life improvements. Although a literature review supports motor benefits, our case’s cognitive decline highlights the need for comprehensive assessment of non-motor symptoms and quality-of-life in this rare disorder.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100377"},"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/S2590112525000817","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
A patient with early-onset PARK14 and novel PLA2G6 variants underwent globus pallidus internus deep brain stimulation, achieving sustained three-year motor and quality-of-life improvements. Although a literature review supports motor benefits, our case’s cognitive decline highlights the need for comprehensive assessment of non-motor symptoms and quality-of-life in this rare disorder.