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Late-Onset Beta-Propeller Protein-Associated Neurodegeneration: A Case Report.

作者信息

Collet-Vidiella Roger, Olmedo-Saura Gonzalo, Ruiz-Barrio Iñigo, Martínez-Viguera Ana, Rodriguez-Santiago Benjamin, Bernal Sara, Kulisevsky Jaime, Pagonabarraga Javier

机构信息

Neurology Department Hospital de la Santa Creu i Sant Pau Barcelona Spain.

Movement Disorders Unit, Neurology Department Hospital de la Santa Creu i Sant Pau Barcelona Spain.

出版信息

Mov Disord Clin Pract. 2023 Jun 21;10(8):1211-1214. doi: 10.1002/mdc3.13811. eCollection 2023 Aug.

DOI:10.1002/mdc3.13811
PMID:37635772
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10450230/
Abstract
摘要

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本文引用的文献

1
Quantitative retrospective natural history modeling of -related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases.定量回顾性自然史模型研究与相关的发育性和癫痫性脑病 - 对 160 例已发表病例的系统横断面分析。
Autophagy. 2022 Jul;18(7):1715-1727. doi: 10.1080/15548627.2021.1990671. Epub 2021 Nov 24.
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Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration.β-三叶螺旋蛋白相关神经退行性疾病的临床管理共识指南。
Dev Med Child Neurol. 2021 Dec;63(12):1402-1409. doi: 10.1111/dmcn.14980. Epub 2021 Aug 4.
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Atypical late presentation of BPAN in a male: A case report.一名男性中BPAN的非典型延迟表现：病例报告。
Parkinsonism Relat Disord. 2019 Mar;60:184-185. doi: 10.1016/j.parkreldis.2018.09.010. Epub 2018 Sep 8.
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Beta-propeller protein-associated neurodegeneration: a case report and review of the literature.β-螺旋桨蛋白相关神经变性：一例报告及文献综述
Clin Case Rep. 2018 Jan 4;6(2):353-362. doi: 10.1002/ccr3.1358. eCollection 2018 Feb.
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Neurodegeneration with brain iron accumulation.伴脑铁沉积的神经退行性变
Handb Clin Neurol. 2018;147:293-305. doi: 10.1016/B978-0-444-63233-3.00019-1.
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
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Neurodegeneration with brain iron accumulation: diagnosis and management.脑铁蓄积性神经退行性变：诊断与管理。
J Mov Disord. 2015 Jan;8(1):1-13. doi: 10.14802/jmd.14034. Epub 2015 Jan 13.
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β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.β- 三联蛋白相关神经退行性疾病：一种伴有脑铁沉积的新的 X 连锁显性遗传病。
Brain. 2013 Jun;136(Pt 6):1708-17. doi: 10.1093/brain/awt095. Epub 2013 May 17.
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Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.外显子组测序揭示 WDR45 突变导致表型不同的 X 连锁显性形式的 NBIA。
Am J Hum Genet. 2012 Dec 7;91(6):1144-9. doi: 10.1016/j.ajhg.2012.10.019. Epub 2012 Nov 21.