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A Case of MPAN with "Eye of the Tiger Sign," Mimicking PKAN.

作者信息

Dehghan Manshadi Masoumeh, Rohani Mohammd, Rezaei Ali, Aryani Omid

机构信息

Department of Molecular Medicine School of Advanced Medical Technology, Iran University of Medical Sciences Tehran Iran.

Medical Genetics Department, Endocrinology and Metabolism Research Institute Tehran University of Medical Sciences Tehran Iran.

出版信息

Mov Disord Clin Pract. 2022 Jun 23;9(5):693-695. doi: 10.1002/mdc3.13493. eCollection 2022 Jul.

DOI:10.1002/mdc3.13493
PMID:35844290
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9274333/
Abstract
摘要

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Mol Genet Genomic Med. 2019 Jul;7(7):e00736. doi: 10.1002/mgg3.736. Epub 2019 May 13.
2
Mitochondrial Membrane Protein Associated Neurodegeneration   (MPAN) with a Novel C19orf12 Mutation in the First Decade of Life.线粒体膜蛋白相关神经退行性变（MPAN）在生命的第一个十年中具有新的 C19orf12 突变。
Indian J Pediatr. 2019 Aug;86(8):746-748. doi: 10.1007/s12098-019-02903-w. Epub 2019 Mar 2.
3
A de novo C19orf12 heterozygous mutation in a patient with MPAN.一名患有MPAN的患者中存在一种新发的C19orf12杂合突变。
Parkinsonism Relat Disord. 2018 Mar;48:109-111. doi: 10.1016/j.parkreldis.2017.12.025. Epub 2017 Dec 27.
4
Clinical and Imaging Presentation of a Patient with Beta-Propeller Protein-Associated Neurodegeneration, a Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA).一名患有β-螺旋桨蛋白相关神经退行性变（一种罕见的散发性脑铁沉积神经退行性变（NBIA）形式）患者的临床和影像学表现
Clin Neuroradiol. 2017 Dec;27(4):481-483. doi: 10.1007/s00062-017-0605-9. Epub 2017 Jun 22.
5
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.
6
Mitochondrial membrane protein-associated neurodegeneration (MPAN).线粒体膜蛋白相关神经退行性变（MPAN）。
Int Rev Neurobiol. 2013;110:73-84. doi: 10.1016/B978-0-12-410502-7.00004-1.
7
Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.线粒体膜蛋白相关神经退行性变：一种新型的伴有脑铁蓄积的神经退行性变。
Mov Disord. 2013 Feb;28(2):224-7. doi: 10.1002/mds.25256. Epub 2012 Nov 19.
8
C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.C19orf12 突变导致的脑铁蓄积性神经退行性变，类似于青少年型肌萎缩侧索硬化症。
J Neurol. 2012 Nov;259(11):2434-9. doi: 10.1007/s00415-012-6521-7. Epub 2012 May 15.
9
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.缺失孤儿线粒体蛋白 c19orf12 导致具有脑铁蓄积的神经退行性变的独特临床亚型。
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