{"title":"脑深部电刺激治疗pla2g6相关性帕金森病的远期疗效1例并文献复习","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":"{\"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}","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}
Long-term efficacy of deep brain stimulation in PLA2G6-related Parkinson’s disease: A case report with literature review
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.