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视神经脊髓炎谱系疾病与线粒体DNA突变:一例报告

Devic's neuromyelitis optica and mitochondrial DNA mutation: a case report.

作者信息

Ghezzi A, Baldini S, Zaffaroni M, Leoni G, Koudriavtseva T, Casini A R, Zeviani M

机构信息

Centro Studi Sclerosi Multipla, Ospedale di Gallarate, Via Pastori 4, I-21013 Gallarate, Italy.

出版信息

Neurol Sci. 2004 Nov;25 Suppl 4:S380-2. doi: 10.1007/s10072-004-0347-8.

DOI:10.1007/s10072-004-0347-8
PMID:15727239
Abstract

Cases are described with Leber's optic atrophy and neurological symptoms and/or MRI lesions suggestive of multiple sclerosis. We describe a case of a young woman with Devic's neuromyelitis optica and 3460 homoplasmic mitochondrial DNA mutation.

摘要

本文描述了伴有Leber视神经萎缩及提示多发性硬化的神经症状和/或MRI病变的病例。我们报告了一例患有视神经脊髓炎谱系疾病(Devic病)并伴有3460纯质线粒体DNA突变的年轻女性病例。

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1
Devic's neuromyelitis optica and mitochondrial DNA mutation: a case report.视神经脊髓炎谱系疾病与线粒体DNA突变:一例报告
Neurol Sci. 2004 Nov;25 Suppl 4:S380-2. doi: 10.1007/s10072-004-0347-8.
2
A case of neuromyelitis optica harboring both anti-aquaporin-4 antibodies and a pathogenic mitochondrial DNA mutation for Leber's hereditary optic neuropathy.一例同时存在抗水通道蛋白 4 抗体和致 Leber 遗传性视神经病变的致病性线粒体 DNA 突变的视神经脊髓炎病例。
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Devic's neuromyelitis optica: a case with mitochondrial DNA mutations.
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A case of neuromyelitis optica harboring both anti-aquaporin-4 antibodies and a pathogenic mitochondrial DNA mutation for Leber's hereditary optic neuropathy: clinical commentary.1例同时携带抗水通道蛋白4抗体和与Leber遗传性视神经病变相关的致病性线粒体DNA突变的视神经脊髓炎病例:临床评论
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Neuromyelitis optica (Devic's syndrome): no association with the primary mitochondrial DNA mutations found in Leber hereditary optic neuropathy.视神经脊髓炎(德维克综合征):与莱伯遗传性视神经病变中发现的原发性线粒体DNA突变无关。
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[Devic's neuromyelitis optica. Presentation of 2 new cases and review of the bibliography].[视神经脊髓炎谱系疾病。2例新病例报告及文献复习]
Neurologia. 2000 Aug-Sep;15(7):307-12.
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Does mitochondrial DNA predispose to neuromyelitis optica (Devic's disease)?线粒体DNA是否易患视神经脊髓炎(德维克病)?
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Devic's neuromyelitis optica: a clinicopathological study of 8 patients.德维克视神经脊髓炎:8例患者的临床病理研究。
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Studies of mitochondrial DNA in Devic's disease revealed no pathogenic mutations, but polymorphisms also found in association with multiple sclerosis.
Ann Neurol. 2002 May;51(5):661-2. doi: 10.1002/ana.10166.

引用本文的文献

1
Leber's Hereditary Optic Neuropathy Plus Causing Recurrent Myelopathy due to an MT-DN1 Mutation at G3635A.由线粒体DNA(MT-DN1)G3635A突变导致的Leber遗传性视神经病变叠加复发性脊髓病。
Case Rep Neurol Med. 2022 Jan 11;2022:1628892. doi: 10.1155/2022/1628892. eCollection 2022.
2
Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6.Leber 遗传性视神经病变伴张力障碍,以及由 MT-ND4 和 MT-ND6 的双重突变引起的横贯性脊髓炎。
J Neurol. 2020 Mar;267(3):823-829. doi: 10.1007/s00415-019-09619-z. Epub 2019 Nov 27.
3
Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis.
莱伯遗传性视神经病变与长节段横贯性脊髓炎
JIMD Rep. 2018;42:53-60. doi: 10.1007/8904_2017_79. Epub 2017 Dec 17.
4
Review: Mitochondria and disease progression in multiple sclerosis.综述:线粒体与多发性硬化症的疾病进展
Neuropathol Appl Neurobiol. 2008 Dec;34(6):577-89. doi: 10.1111/j.1365-2990.2008.00987.x.