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Childhood-Onset Dystonia Attributed to Aicardi-Goutières Syndrome and Responsive to Deep Brain Stimulation.

作者信息

Saraf Udit, Chandarana Mitesh, Puthenveedu Divya Kalikavil, Kesavapisharady Krishnakumar, Krishnan Syam, Kishore Asha

机构信息

Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology Thiruvananthapuram India.

Department of Neurosurgery Sree Chitra Tirunal Institute for Medical Sciences and Technology Thiruvananthapuram India.

出版信息

Mov Disord Clin Pract. 2021 Apr 19;8(4):613-615. doi: 10.1002/mdc3.13205. eCollection 2021 May.

DOI:10.1002/mdc3.13205
PMID:33981798
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8088118/
Abstract
摘要

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本文引用的文献

1
Diagnosis of Aicardi-Goutières Syndrome in Adults: A Case Series.成人Aicardi-Goutières综合征的诊断：病例系列
Mov Disord Clin Pract. 2020 Feb 17;7(3):303-307. doi: 10.1002/mdc3.12903. eCollection 2020 Apr.
2
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.与 IFIH1 功能获得性相关的遗传和表型谱。
Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14.
3
Novel and emerging treatments for Aicardi-Goutières syndrome.Aicardi-Goutières 综合征的新型和新兴治疗方法。
Expert Rev Clin Immunol. 2020 Feb;16(2):189-198. doi: 10.1080/1744666X.2019.1707663. Epub 2020 Jan 6.
4
Deep brain stimulation of the globus pallidus internus versus the subthalamic nucleus in isolated dystonia.孤立性肌张力障碍中苍白球内侧部与丘脑底核的脑深部电刺激治疗
J Neurosurg. 2019 Mar 8;132(3):721-732. doi: 10.3171/2018.12.JNS181927. Print 2020 Mar 1.
5
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome.Aicardi-Goutières综合征的神经放射学模式及新的影像学发现。
Neurology. 2016 Jan 5;86(1):28-35. doi: 10.1212/WNL.0000000000002228. Epub 2015 Nov 18.
6
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.与TREX1、RNASEH2A、RNASEH2B、RNASEH2C、SAMHD1、ADAR和IFI1H1突变相关的人类疾病表型特征
Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16.
7
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.IFIH1 的获得性功能突变导致一系列与 I 型干扰素信号转导上调相关的人类疾病表型。
Nat Genet. 2014 May;46(5):503-509. doi: 10.1038/ng.2933. Epub 2014 Mar 30.
8
Aicardi-Goutières syndrome.艾卡迪-古铁雷斯综合征。
Handb Clin Neurol. 2013;113:1629-35. doi: 10.1016/B978-0-444-59565-2.00031-9.
9
Bilateral deep brain stimulation of the subthalamic nucleus effectively relieves dystonia secondary to Fahr's disease: a case report.双侧丘脑底核深部脑刺激有效缓解 Fahr 病继发的肌张力障碍：病例报告。
Int J Neurosci. 2013 Aug;123(8):582-6. doi: 10.3109/00207454.2013.772611. Epub 2013 Feb 28.
10
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.艾卡迪-古铁雷斯综合征的临床和分子表型
Am J Hum Genet. 2007 Oct;81(4):713-25. doi: 10.1086/521373. Epub 2007 Sep 4.