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Case Report: Clinical Outcome From Pallidal Stimulation in a Patient With Levodopa-Resistant Dopa-Responsive Dystonia.

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机构： [1]Department of Neurology, Xuanwu Hospital of Capital Medical University, Beijing, China, [2]Department of Functional Neurosurgery, Xuanwu Hospital of Capital Medical University, Beijing, China, [3]Department of Biology, Carleton College, Northfield, MN, United States, [4]Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China, [5]Department of Neurology, Beijing BoRen Hospital, Beijing, China

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关键词： dopa-responsive dystonia deep brain stimulation globus pallidus internus levodopa-resistant GCH-I mutation

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Dopa-responsive dystonia (DRD) is a group of movement disorders with genetic and clinical heterogeneity. Dramatic response to levodopa is the hallmark of DRD. Therefore, DRD cases with poor response to levodopa are rarely reported. In addition, the clinical outcomes from deep brain stimulation (DBS) in levodopa-resistant patients remain unclear. Here, we described the clinical outcome of pallidal stimulation in a DRD patient having a poor response to levodopa. The patient was a 25-year-old man and had a 7-year history of cervical dystonia. A novel frameshift mutation in the GCH1 gene was found in the patient as well as his elder sister and mother. Unfortunately, he had no response to a large dosage of levodopa/benserazide (600/150 mg per day) and onabotulinumtoxin A injection. Therefore, bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) was performed. With parameter adjustments, the severity of his torticollis was gradually improved and relieved substantially in the 8-month follow-up visit. Our current report highlights that GPi-DBS therapy leads to promising clinical outcomes for levodopa-resistant DRD.Copyright © 2022 Wang, Mei, Tian, Wang, Hao, Zhu, Mao and Li.

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出版当年[2021]版：

大类 | 3 区医学

小类 | 3 区临床神经病学 3 区神经科学

最新[2023]版：

大类 | 3 区医学

小类 | 3 区临床神经病学 3 区神经科学

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出版当年[2020]版：

Q2 NEUROSCIENCES Q2 CLINICAL NEUROLOGY

最新[2023]版：

Q2 CLINICAL NEUROLOGY Q3 NEUROSCIENCES

影响因子： 2.7 最新[2023版] 3.3 最新五年平均 4.003 出版当年[2020版] 4.189 出版当年五年平均 2.889 出版前一年[2019版] 4.086 出版后一年[2021版]

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第一作者机构： [1]Department of Neurology, Xuanwu Hospital of Capital Medical University, Beijing, China,

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