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Homozygous DNAJC6 Mutated Juvenile Onset Dystonia-Parkinsonism Is Responsive to Pallidal Deep Brain Stimulation.

作者信息

Manfield James, Bogdanovic Marko, Sarangmat Nagaraja, Scotton Sangeeta, Green Alexander L, Fitzgerald James

机构信息

Oxford Functional Neurosurgery, John Radcliffe Hospital, Oxford, UK.

Department of Neurology, Royal Wolverhampton Hospital, Wolverhampton, UK.

出版信息

Mov Disord Clin Pract. 2025 Mar;12(3):392-396. doi: 10.1002/mdc3.14300. Epub 2024 Dec 10.

DOI:10.1002/mdc3.14300
PMID:39654465
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11952936/
Abstract
摘要

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Bilateral pallidal deep brain stimulation for X-linked dystonia-parkinsonism.双侧苍白球深部脑刺激治疗 X 连锁型肌张力障碍-帕金森病。
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本文引用的文献

1
[A Chinese interpretation for the "ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020"].《<2020年罕见病变异分类的ACGS最佳实践指南>的中文解读》
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Aug 10;40(8):915-921. doi: 10.3760/cma.j.cn511374-20221017-00692.
2
DNAJC6 mutation causing cranial-onset dystonia with tremor dominant levodopa non-responsive parkinsonism: A novel phenotype.DNAJC6 突变导致以头部起病的震颤为主的左旋多巴反应性帕金森病：一种新的表型。
Parkinsonism Relat Disord. 2021 Aug;89:1-3. doi: 10.1016/j.parkreldis.2021.06.013. Epub 2021 Jun 23.
3
Deep brain stimulation for monogenic Parkinson's disease: a systematic review.
基因性帕金森病的深部脑刺激治疗：系统综述。
J Neurol. 2020 Apr;267(4):883-897. doi: 10.1007/s00415-019-09181-8. Epub 2019 Jan 18.
4
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.DNAJC6 突变与早发性帕金森病相关。
Ann Neurol. 2016 Feb;79(2):244-56. doi: 10.1002/ana.24553. Epub 2016 Jan 14.
5
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
6
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.DNAJC6 编码神经元特异性网格蛋白解包辅助蛋白 auxilin 的有害突变与青少年帕金森病有关。
PLoS One. 2012;7(5):e36458. doi: 10.1371/journal.pone.0036458. Epub 2012 May 1.