Rapid-Onset Dystonia-Parkinsonism in a Chinese Girl with a De Novo c.2267G>A (p.R756H) Genetic Mutation.
作者信息
Tan Ai Huey, Ozelius Laurie J, Brashear Allison, Lang Anthony E, Ahmad-Annuar Azlina, Tan Chong Tin, Lim Shen-Yang
机构信息
Division of Neurology and the Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders; and the Department of Biomedical Science Faculty of Medicine University of Malaya Kuala Lumpur Malaysia.
Departments of Genetics and Genomic Sciences and Neurology Mount Sinai School of Medicine New York New York USA.
出版信息
Mov Disord Clin Pract. 2014 Dec 30;2(1):74-75. doi: 10.1002/mdc3.12122. eCollection 2015 Mar.
Abstract
摘要
相似文献
1
Rapid-Onset Dystonia-Parkinsonism in a Chinese Girl with a De Novo c.2267G>A (p.R756H) Genetic Mutation.一名患有新发c.2267G>A（p.R756H）基因突变的中国女孩的快速起病性肌张力障碍-帕金森综合征
Mov Disord Clin Pract. 2014 Dec 30;2(1):74-75. doi: 10.1002/mdc3.12122. eCollection 2015 Mar.
2
Chinese patients with p.Arg756 mutations of : Clinical manifestations, treatment, and follow-up.携带p.Arg756突变的中国患者：临床表现、治疗及随访
Pediatr Investig. 2022 Feb 25;6(1):5-10. doi: 10.1002/ped4.12310. eCollection 2022 Mar.
3
Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.发热诱导的阵发性肌无力和脑病，ATP1A3突变的一种新表型。
Pediatr Neurol. 2017 Aug;73:101-105. doi: 10.1016/j.pediatrneurol.2017.04.022. Epub 2017 Apr 29.
4
[A childhood-onset rapid-onset dystonia parkinsonism family with ATP1A3 gene mutation and literatures review].[一个伴有ATP1A3基因突变的儿童期起病的快速进展性肌张力障碍帕金森综合征家系及文献复习]
Zhonghua Er Ke Za Zhi. 2017 Apr 2;55(4):288-293. doi: 10.3760/cma.j.issn.0578-1310.2017.04.011.
5
De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.ATP1A3基因的新发p.Arg756Cys突变导致一种非典型的儿童交替性偏瘫，伴有长时间麻痹和舞蹈手足徐动症。
BMC Neurol. 2016 Sep 15;16:174. doi: 10.1186/s12883-016-0680-6.
6
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.快速发作性肌张力障碍-帕金森综合征（RDP）的表型谱及ATP1A3基因突变
Brain. 2007 Mar;130(Pt 3):828-35. doi: 10.1093/brain/awl340. Epub 2007 Feb 4.
7
Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing.修订快速进展性肌张力障碍-帕金森病：扩大 ATP1A3 检测的适应证。
Mov Disord. 2019 Oct;34(10):1528-1536. doi: 10.1002/mds.27801. Epub 2019 Jul 30.
8
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.杂合新生突变在伴有转换性偏瘫的儿童患者中的 ATP1A3 中：全外显子组测序基因鉴定研究。
Lancet Neurol. 2012 Sep;11(9):764-73. doi: 10.1016/S1474-4422(12)70182-5. Epub 2012 Jul 30.
9
[Phenotypic and genotypic characteristics of fever-induced paroxysmal weakness and encephalopathy caused by ATP1A3 pathogenic variants].[ATP1A3 致病变异导致的发热诱发性阵发性无力和脑病的表型和基因型特征]
Zhonghua Er Ke Za Zhi. 2019 Jul 2;57(7):543-547. doi: 10.3760/cma.j.issn.0578-1310.2019.07.010.
10
Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes.相同的ATP1A3突变导致儿童交替性偏瘫和快速进展性肌张力障碍帕金森综合征表型。
Pediatr Neurol. 2014 Dec;51(6):850-3. doi: 10.1016/j.pediatrneurol.2014.08.015. Epub 2014 Aug 29.
引用本文的文献
1
Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever.疾病谱包括非发热诱发的阵发性无力和脑病。
Neurol Genet. 2024 Apr 25;10(3):e200150. doi: 10.1212/NXG.0000000000200150. eCollection 2024 Jun.
2
Evaluating Dysfunction in Fever-Induced Paroxysmal Weakness and Encephalopathy.评估发热诱导的阵发性无力和脑病中的功能障碍。
Children (Basel). 2023 Apr 10;10(4):703. doi: 10.3390/children10040703.
3
mutation in rapid-onset dystonia parkinsonism: New data and genotype-phenotype correlation analysis.快速起病肌张力障碍帕金森综合征的突变：新数据及基因型-表型相关性分析
Front Aging Neurosci. 2022 Aug 1;14:933893. doi: 10.3389/fnagi.2022.933893. eCollection 2022.
4
Chinese patients with p.Arg756 mutations of : Clinical manifestations, treatment, and follow-up.携带p.Arg756突变的中国患者：临床表现、治疗及随访
Pediatr Investig. 2022 Feb 25;6(1):5-10. doi: 10.1002/ped4.12310. eCollection 2022 Mar.
5
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.ATP1A3 756 位残基变异引起的复发性小脑共济失调伴脑病（RECA）的另一种表型：两例报告及文献复习。
Mol Genet Genomic Med. 2021 Sep;9(9):e1772. doi: 10.1002/mgg3.1772. Epub 2021 Aug 2.
本文引用的文献
1
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.ATP1A3 突变与中国儿童发作性偏瘫的基因型-表型相关性。
PLoS One. 2014 May 19;9(5):e97274. doi: 10.1371/journal.pone.0097274. eCollection 2014.
2
Distinct neurological disorders with ATP1A3 mutations.ATP1A3 突变相关的不同神经障碍。
Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0.
3
ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.婴儿中的 ATP1A3 突变：一种新的快速发作性肌张力障碍-帕金森病表型，其特征为运动延迟和共济失调。
Dev Med Child Neurol. 2012 Nov;54(11):1065-7. doi: 10.1111/j.1469-8749.2012.04421.x. Epub 2012 Aug 28.
4
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.一名患有新型ATP1A3基因突变儿童的快速发作性肌张力障碍-帕金森综合征
Neurology. 2009 Aug 4;73(5):400-1. doi: 10.1212/WNL.0b013e3181b04acd.
5
ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism.首例亚洲快速起病型肌张力障碍-帕金森综合征患者的ATP1A3突变
Mov Disord. 2007 Sep 15;22(12):1808-9. doi: 10.1002/mds.21638.
6
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.快速发作性肌张力障碍-帕金森综合征（RDP）的表型谱及ATP1A3基因突变
Brain. 2007 Mar;130(Pt 3):828-35. doi: 10.1093/brain/awl340. Epub 2007 Feb 4.
Zotero 插件