Deep Brain Stimulation Improves Symptoms in an Individual with Alpha-Synuclein-Gene-Associated Parkinson's Disease.
作者信息
Braun Abigail, Basson Dion, Moosa Shahida, Carr Jonathan, Bardien Soraya, van Coller Riaan
机构信息
Division of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, South Africa.
South African Medical Research Council Centre for Tuberculosis Research, Stellenbosch University, Cape Town, South Africa.
出版信息
Mov Disord Clin Pract. 2025 Aug;12(8):1200-1203. doi: 10.1002/mdc3.70057. Epub 2025 Mar 29.
Abstract
摘要
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本文引用的文献
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Clinical genetic testing in Parkinson's disease should become part of routine patient care.帕金森病的临床基因检测应成为常规患者护理的一部分。
Brain. 2024 Aug 1;147(8):2595-2597. doi: 10.1093/brain/awae181.
2
One-Year Follow-Up of Subthalamic Nucleus Deep Brain Stimulation in SNCA Mutation Parkinsonism: A Case Report.SNCA 突变型帕金森病丘脑底核脑深部电刺激的一年随访：病例报告
Tremor Other Hyperkinet Mov (N Y). 2023 Dec 21;13:47. doi: 10.5334/tohm.819. eCollection 2023.
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Cognitive Effects of Subthalamic Nucleus Deep Brain Stimulation in Parkinson's Disease with GBA1 Pathogenic Variants.帕金森病 GBA1 致病性变异患者丘脑底核脑深部电刺激的认知影响。
Mov Disord. 2023 Dec;38(12):2155-2162. doi: 10.1002/mds.29647. Epub 2023 Nov 2.
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Subthalamic deep brain stimulation in Parkinson's disease with SNCA mutations: Based on the follow-up to 10 years.帕金森病伴 SNCA 突变患者的丘脑底核脑深部电刺激：基于 10 年随访结果。
Brain Behav. 2022 Feb;12(2):e2503. doi: 10.1002/brb3.2503. Epub 2022 Jan 18.
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A population scale analysis of rare SNCA variation in the UK Biobank.在英国生物银行进行的罕见 SNCA 变异的人群规模分析。
Neurobiol Dis. 2021 Jan;148:105182. doi: 10.1016/j.nbd.2020.105182. Epub 2020 Dec 8.
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Front Neurol. 2018 Dec 11;9:1021. doi: 10.3389/fneur.2018.01021. eCollection 2018.
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Clinical and imaging findings in Parkinson disease associated with the A53E SNCA mutation.帕金森病伴 A53E SNCA 突变的临床和影像学特征。
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Successful GPi stimulation in genetic Parkinson's disease caused by mosaicism of alpha-synuclein gene duplication: first description.由α-突触核蛋白基因重复镶嵌现象引起的遗传性帕金森病中苍白球内侧部刺激成功：首次描述。
J Neurol. 2015 Jan;262(1):222-3. doi: 10.1007/s00415-014-7576-4. Epub 2014 Nov 20.
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Subthalamic deep brain stimulation for a Parkinson's disease patient with duplication of SNCA.丘脑底核深部脑刺激治疗一名患有SNCA基因重复的帕金森病患者。
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