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Early-Onset Isolated Dystonia Associated with COL6A3 Mutation Responsive to Deep Brain Stimulation.

作者信息

Yan Jiuqi, He Xinyi, Qiu Chang, Lu Yue, Zhao Liang, Luo Bei, Dong Wenwen, Sun Jian, Chang Lei, Wei Xiang, Yan Jun, Zhang Wenbin

机构信息

Department of Functional Neurosurgery, The Affiliated Brain Hospital of Nanjing Medical University, Nanjing, China.

Department of Geriatric Neurology, The Affiliated Brain Hospital of Nanjing Medical University, Nanjing, China.

出版信息

Mov Disord Clin Pract. 2024 Dec;11(12):1638-1641. doi: 10.1002/mdc3.14221. Epub 2024 Oct 3.

DOI:10.1002/mdc3.14221
PMID:39360855
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11648030/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4146/11648030/38568ed9610d/MDC3-11-1638-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4146/11648030/38568ed9610d/MDC3-11-1638-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4146/11648030/38568ed9610d/MDC3-11-1638-g001.jpg

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Early-Onset Isolated Dystonia Associated with COL6A3 Mutation Responsive to Deep Brain Stimulation.与COL6A3突变相关的早发性孤立性肌张力障碍对深部脑刺激有反应。
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COL6A3 mutation associated early-onset isolated dystonia (DYT)-27: Report of a new case and review of published literature.与COL6A3突变相关的早发性孤立性肌张力障碍（DYT）-27：一例新病例报告及已发表文献综述
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本文引用的文献

1
GPi-DBS-induced brain metabolic activation in cervical dystonia.GPi-DBS 诱导的颈肌张力障碍脑代谢激活。
J Neurol Neurosurg Psychiatry. 2024 Mar 13;95(4):300-308. doi: 10.1136/jnnp-2023-331668.
2
A novel compound heterozygous mutation of in Chinese patients with isolated cervical dystonia.中国孤立性颈部肌张力障碍患者中的一种新型复合杂合突变。
Front Neurol. 2023 Apr 4;14:1105760. doi: 10.3389/fneur.2023.1105760. eCollection 2023.
3
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.
COL6 相关肌病患者新 COL6 基因突变致细胞外基质紊乱和肌膜改变。
Int J Mol Sci. 2023 Mar 14;24(6):5551. doi: 10.3390/ijms24065551.
4
Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.孤立性肌张力障碍基因的基因型-表型关系：MDSGene 系统评价。
Mov Disord. 2021 May;36(5):1086-1103. doi: 10.1002/mds.28485. Epub 2021 Jan 27.
5
COL6A3 mutation associated early-onset isolated dystonia (DYT)-27: Report of a new case and review of published literature.与COL6A3突变相关的早发性孤立性肌张力障碍（DYT）-27：一例新病例报告及已发表文献综述
Brain Dev. 2020 Apr;42(4):329-335. doi: 10.1016/j.braindev.2020.01.004. Epub 2020 Feb 6.
6
Dystonia.肌张力障碍
Nat Rev Dis Primers. 2018 Sep 20;4(1):25. doi: 10.1038/s41572-018-0023-6.
7
The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27).由隐性COL6A3突变引起的早发性孤立性肌张力障碍（DYT27）的临床表型。
Mov Disord. 2016 May;31(5):747-50. doi: 10.1002/mds.26501. Epub 2015 Dec 21.
8
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.α3（VI）胶原蛋白基因COL6A3中的隐性突变会导致早发性孤立性肌张力障碍。
Am J Hum Genet. 2015 Jun 4;96(6):883-93. doi: 10.1016/j.ajhg.2015.04.010. Epub 2015 May 21.
9
Pallidal neurostimulation in patients with medication-refractory cervical dystonia: a randomised, sham-controlled trial.药物难治性颈肌张力障碍患者的苍白球神经刺激：一项随机、假手术对照试验。
Lancet Neurol. 2014 Sep;13(9):875-84. doi: 10.1016/S1474-4422(14)70143-7. Epub 2014 Aug 7.
10
Distinct target-derived signals organize formation, maturation, and maintenance of motor nerve terminals.不同的靶源信号调控运动神经末梢的形成、成熟和维持。
Cell. 2007 Apr 6;129(1):179-93. doi: 10.1016/j.cell.2007.02.035.