Late-Onset Dystonia With Mutation (DYT6) in South Korea: A Case Report and Literature Review.
作者信息
Chang Hee Jin, Woo Kyung Ah, Kim Han-Joon, Jeon Beomseok
机构信息
Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
出版信息
J Clin Neurol. 2023 Mar;19(2):198-200. doi: 10.3988/jcn.2022.0241.
Abstract
摘要
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本文引用的文献
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Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice.运动障碍的基因诊断。全外显子测序在临床实践中的应用。
Tremor Other Hyperkinet Mov (N Y). 2022 Apr 20;12:12. doi: 10.5334/tohm.678. eCollection 2022.
2
Late adulthood onset DYT-THAP1 secondary to a novel splice site mutation-A report from India.继发于新型剪接位点突变的成年晚期发病的DYT-THAP1——来自印度的报告
Parkinsonism Relat Disord. 2020 Sep;78:36-37. doi: 10.1016/j.parkreldis.2020.06.017. Epub 2020 Jul 11.
3
Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement.苍白球深部脑刺激治疗DYT6型肌张力障碍：运动改善的临床结果及预测因素
J Clin Med. 2019 Dec 6;8(12):2163. doi: 10.3390/jcm8122163.
4
Mutation screening of the DYT6/THAP1 gene in Serbian patients with primary dystonia.对塞尔维亚原发性肌张力障碍患者的 DYT6/THAP1 基因突变进行筛查。
J Neurol. 2013 Apr;260(4):1037-42. doi: 10.1007/s00415-012-6753-6. Epub 2012 Nov 20.
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DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.DYT6 型肌张力障碍：突变筛查、表型及脑深部电刺激反应。
Mov Disord. 2010 Oct 30;25(14):2420-7. doi: 10.1002/mds.23285.
6
Prevalence of THAP1 sequence variants in German patients with primary dystonia.德国原发性肌张力障碍患者中 THAP1 序列变异的流行情况。
Mov Disord. 2010 Sep 15;25(12):1982-6. doi: 10.1002/mds.23207.
7
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.THAP1 突变（DYT6）是早发性肌张力障碍的另一个病因。
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8
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9
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Nat Genet. 2009 Mar;41(3):286-8. doi: 10.1038/ng.304. Epub 2009 Feb 1.
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