One-Year Follow-Up of Subthalamic Nucleus Deep Brain Stimulation in SNCA Mutation Parkinsonism: A Case Report

IF 2.5 Q2 CLINICAL NEUROLOGY Tremor and Other Hyperkinetic Movements Pub Date : 2023-12-21 DOI:10.5334/tohm.819

Eve Fouarge, Gaëtan Garraux, Bruno Kaschten, A. Salado, E. Parmentier

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Abstract

Background: Deep brain stimulation (DBS) has shown some efficacy in monogenic Parkinson’s disease; however, data about its long-term benefit in SNCA mutations remain scarce. Case report: Subthalamic nucleus DBS was implanted in a 60-year-old female patient with Parkinson’s disease due to SNCA duplication. One year later, the patient walked unassisted and was independent for most activities of daily living, without requiring any anti-Parkinson’s medication. Discussion: To our knowledge, four cases of bilateral subthalamic DBS have been reported previously. This case report adds an additional body of evidence of improved one-year outcome after DBS surgery in a patient with SNCA mutation. Highlights: This is a case report of a patient with genetic parkinsonism due to SNCA duplication undergoing bilateral subthalamic nucleus (STN) deep brain stimulation (DBS) surgery. The outcome was favorable one year after implantation, with the patient coming off all anti-Parkinson’s medications. This further clarifies DBS outcome in monogenic Parkinson’s disease.

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眼下核深部脑刺激治疗 SNCA 突变帕金森病的一年随访：病例报告

背景：脑深部刺激（DBS）对单基因帕金森病有一定疗效，但有关其对 SNCA 突变的长期益处的数据仍然很少。病例报告：一名因 SNCA 基因重复而患有帕金森病的 60 岁女性患者接受了眼下核 DBS 植入术。一年后，患者能独立行走，并能独立完成大部分日常生活活动，无需服用任何抗帕金森病药物。讨论：据我们所知，此前已有四例双侧丘脑下 DBS 的报道。本病例报告为SNCA基因突变患者接受DBS手术后一年的预后改善提供了更多证据。亮点：本病例报告了一名因 SNCA 复制而患有遗传性帕金森病的患者接受双侧丘脑下核（STN）脑深部刺激（DBS）手术的情况。植入手术一年后，患者停用了所有抗帕金森氏症药物，疗效良好。这进一步明确了单基因帕金森病的 DBS 治疗效果。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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