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ATP1A3-Related Relapsing Encephalopathy with Cerebellar Ataxia (RECA): A Genetic Disorder with an Inflammatory Basis?伴有小脑共济失调的ATP1A3相关性复发性脑病（RECA）：一种具有炎症基础的遗传性疾病？
Mov Disord Clin Pract. 2022 Sep 30;9(8):1120-1123. doi: 10.1002/mdc3.13564. eCollection 2022 Nov.
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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。
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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。
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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。
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Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.与ATP1A3突变相关的复发性脑病伴小脑共济失调
Dev Med Child Neurol. 2015 Dec;57(12):1183-6. doi: 10.1111/dmcn.12927. Epub 2015 Sep 23.
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Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.儿童交替性偏瘫：一种独特的临床实体和 ATP1A3 相关疾病：叙述性综述。
Medicine (Baltimore). 2022 Aug 5;101(31):e29413. doi: 10.1097/MD.0000000000029413.
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Expanding Phenotype of - Related Disorders: A Case Series.与[具体疾病名称]相关疾病的扩展表型：病例系列
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Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.伴有小脑共济失调的复发性脑病是由 ATP1A3 中 p.Arg756 变异引起的。
Eur J Paediatr Neurol. 2019 May;23(3):448-455. doi: 10.1016/j.ejpn.2019.02.004. Epub 2019 Feb 22.
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ATP1A3-related disorders in the differential diagnosis of acute brainstem and cerebellar dysfunction.ATP1A3 相关性疾病在急性脑干和小脑功能障碍鉴别诊断中的作用。
Eur J Paediatr Neurol. 2021 Sep;34:105-109. doi: 10.1016/j.ejpn.2021.08.005. Epub 2021 Aug 26.

本文引用的文献

1
Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases.脑脊液中新蝶呤作为神经炎症性疾病的生物标志物。
Sci Rep. 2020 Oct 26;10(1):18291. doi: 10.1038/s41598-020-75500-z.
2
Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.伴有小脑共济失调的复发性脑病是由 ATP1A3 中 p.Arg756 变异引起的。
Eur J Paediatr Neurol. 2019 May;23(3):448-455. doi: 10.1016/j.ejpn.2019.02.004. Epub 2019 Feb 22.
3
ATP1A3-related disorders: An update.ATP1A3 相关疾病：最新研究进展。
Eur J Paediatr Neurol. 2018 Mar;22(2):257-263. doi: 10.1016/j.ejpn.2017.12.009. Epub 2017 Dec 21.
4
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.
5
Mosaicism in ATP1A3-related disorders: not just a theoretical risk.ATP1A3相关疾病中的镶嵌现象：不仅仅是一种理论上的风险。
Neurogenetics. 2017 Jan;18(1):23-28. doi: 10.1007/s10048-016-0498-9. Epub 2016 Oct 10.
6
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.与ATP1A3突变相关的复发性脑病伴小脑共济失调
Dev Med Child Neurol. 2015 Dec;57(12):1183-6. doi: 10.1111/dmcn.12927. Epub 2015 Sep 23.
7
Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood.一名患有儿童交替性偏瘫的患者对生酮饮食有良好反应。
JIMD Rep. 2015;15:7-12. doi: 10.1007/8904_2013_292. Epub 2014 Feb 16.
8
Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet.伴有ATP1A3新发突变及对生酮饮食有反应的SLC2A1变化的儿童交替性偏瘫
Pediatr Neurol. 2014 Apr;50(4):377-9. doi: 10.1016/j.pediatrneurol.2013.11.017. Epub 2013 Dec 4.
9
Cerebrospinal fluid neopterin in paediatric neurology: a marker of active central nervous system inflammation.小儿神经病学中的脑脊液新蝶呤：中枢神经系统活动性炎症的标志物
Dev Med Child Neurol. 2009 Apr;51(4):317-23. doi: 10.1111/j.1469-8749.2008.03225.x. Epub 2009 Jan 26.
10
Increased neopterin production and tryptophan degradation in advanced Parkinson's disease.晚期帕金森病中新蝶呤生成增加及色氨酸降解
J Neural Transm (Vienna). 2002 Feb;109(2):181-9. doi: 10.1007/s007020200014.

ATP1A3-Related Relapsing Encephalopathy with Cerebellar Ataxia (RECA): A Genetic Disorder with an Inflammatory Basis?

作者信息

Martin Andrew J, Ong Tien-Lee, Briceno-Morales Hugo, Tchan Michel, Fung Victor S C

机构信息

Movement Disorders Unit, Neurology Department, Westmead Hospital Westmead New South Wales Australia.

Blacktown Hospital Blacktown New South Wales Australia.

出版信息

Mov Disord Clin Pract. 2022 Sep 30;9(8):1120-1123. doi: 10.1002/mdc3.13564. eCollection 2022 Nov.

DOI:10.1002/mdc3.13564
PMID:36339296
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9631839/
Abstract
摘要