儿童交替性偏侧肌张力障碍：用苯海索治疗的ATP1A3的独特表现。 - Suppr

Alternating hemidystonia of childhood: a unique presentation of ATP1A3 treated with trihexyphenidyl.

作者信息

Bundy Jonathan, Zhao Hongfei, Kianirad Yasaman

机构信息

Department of Neurology and Rehabilitation, University of Illinois at Chicago, 912 S Wood St, RM 174, Chicago, IL, 60612, USA.

出版信息

J Neurol. 2024 Aug;271(8):5656-5658. doi: 10.1007/s00415-024-12487-x. Epub 2024 Jun 5.

DOI:10.1007/s00415-024-12487-x

PMID:38839636

Abstract

摘要

相似文献

Alternating hemidystonia of childhood: a unique presentation of ATP1A3 treated with trihexyphenidyl.儿童交替性偏侧肌张力障碍：用苯海索治疗的ATP1A3的独特表现。

J Neurol. 2024 Aug;271(8):5656-5658. doi: 10.1007/s00415-024-12487-x. Epub 2024 Jun 5.

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.

Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.伴有巨脑回的偏瘫性肌阵挛癫痫是 ATP1A3 相关疾病的一部分。

Brain Dev. 2022 Sep;44(8):567-570. doi: 10.1016/j.braindev.2022.05.001. Epub 2022 May 24.

A novel ATP1A3 mutation with unique clinical presentation.一种具有独特临床表现的新型ATP1A3突变。

J Neurol Sci. 2014 Jun 15;341(1-2):133-5. doi: 10.1016/j.jns.2014.03.034. Epub 2014 Mar 25.

[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].[儿童交替性偏瘫：16例患者的ATP1A3基因分析]

Med Clin (Barc). 2014 Jul 7;143(1):25-8. doi: 10.1016/j.medcli.2014.01.036. Epub 2014 Apr 24.

Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.ATP1A3 相关疾病的突变和表型扩展：9 例报告。

Gene. 2020 Jul 30;749:144709. doi: 10.1016/j.gene.2020.144709. Epub 2020 Apr 25.

The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.ATP1A3 基因突变患儿神经表型谱不断扩大，包括儿童交替性偏瘫、快速进展性肌张力障碍 - 帕金森综合征、CAPOS 及其他。

Pediatr Neurol. 2015 Jan;52(1):56-64. doi: 10.1016/j.pediatrneurol.2014.09.015. Epub 2014 Oct 13.

[Alternating hemiplegia].[交替性偏瘫]

Zh Nevrol Psikhiatr Im S S Korsakova. 2020;120(3):72-76. doi: 10.17116/jnevro202012003172.

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.儿童期起病的ATP1A3相关病症：两例新表型谱病例报告。

Parkinsonism Relat Disord. 2016 Sep;30:81-2. doi: 10.1016/j.parkreldis.2016.05.029. Epub 2016 Jun 1.

Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity.比较儿童交替性偏瘫和快速进展性肌张力障碍-帕金森病 ATP1A3 突变的分析显示存在功能缺陷，但与疾病严重程度无关。

Neurobiol Dis. 2020 Sep;143:105012. doi: 10.1016/j.nbd.2020.105012. Epub 2020 Jul 10.

本文引用的文献

Dopa-responsive dystonia and paroxysmal dystonic attacks associated with gene variant.多巴反应性肌张力障碍和发作性运动障碍伴基因变异。

Pract Neurol. 2024 Jul 16;24(4):326-328. doi: 10.1136/pn-2023-004045.

Neurobiol Dis. 2020 Sep;143:105012. doi: 10.1016/j.nbd.2020.105012. Epub 2020 Jul 10.

Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations.儿童交替性偏瘫：理解ATP1A3变异的基因型-表型关系

Appl Clin Genet. 2020 Mar 30;13:71-81. doi: 10.2147/TACG.S210325. eCollection 2020.

A functional correlate of severity in alternating hemiplegia of childhood.儿童交替性偏瘫严重程度的功能相关性。

Neurobiol Dis. 2015 May;77:88-93. doi: 10.1016/j.nbd.2015.02.002. Epub 2015 Feb 12.

Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding.儿童交替性偏瘫突变对钠钾ATP酶活性和哇巴因结合有不同影响。

Biochim Biophys Acta. 2014 Jul;1842(7):1010-6. doi: 10.1016/j.bbadis.2014.03.002. Epub 2014 Mar 12.

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.ATP1A3 中的新生突变导致儿童交替性偏瘫。

Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29.

Alternating hemiplegia in childhood: a report of eight patients with complicated migraine beginning in infancy.儿童交替性偏瘫：8例始于婴儿期的复杂性偏头痛患者报告。

Pediatrics. 1971 Apr;47(4):675-80.

Immunofluorescent localization of three Na,K-ATPase isozymes in the rat central nervous system: both neurons and glia can express more than one Na,K-ATPase.大鼠中枢神经系统中三种钠钾ATP酶同工酶的免疫荧光定位：神经元和神经胶质细胞均可表达不止一种钠钾ATP酶。

J Neurosci. 1991 Feb;11(2):381-91. doi: 10.1523/JNEUROSCI.11-02-00381.1991.

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Alternating hemidystonia of childhood: a unique presentation of ATP1A3 treated with trihexyphenidyl.

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