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.
Abstract
摘要
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本文引用的文献
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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.
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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: An update.ATP1A3 相关疾病：最新研究进展。
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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.
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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.
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.
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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.
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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.
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