一名患有m.11778G > A型Leber遗传性视神经病变男性患者的多发性硬化症诊断。 - Suppr

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超能文献

MS diagnosis in a male patient with m.11778G > A Leber's hereditary optic neuropathy.

作者信息

Scoppettuolo Pasquale, Retif Cecile, Kampouridis Stelianos, Meunier Audrey, Schulz Joachim

机构信息

Neurology Department, St Pierre Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium.

Radiology Department, St Pierre Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium.

出版信息

Neurol Sci. 2022 Oct;43(10):6117-6120. doi: 10.1007/s10072-022-06193-7. Epub 2022 Jun 11.

DOI:10.1007/s10072-022-06193-7

PMID:35690699

Abstract

摘要

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MS diagnosis in a male patient with m.11778G > A Leber's hereditary optic neuropathy.一名患有m.11778G > A型Leber遗传性视神经病变男性患者的多发性硬化症诊断。

Neurol Sci. 2022 Oct;43(10):6117-6120. doi: 10.1007/s10072-022-06193-7. Epub 2022 Jun 11.

Progress in diagnosis and treatment of Leber's hereditary optic neuropathy.Leber 遗传性视神经病变的诊治进展。

J Mol Med (Berl). 2024 Jan;102(1):1-10. doi: 10.1007/s00109-023-02389-2. Epub 2023 Nov 20.

White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460 mitochondrial DNA mutation.由线粒体DNA 3460突变所致的Leber遗传性视神经病变中的白质异常。

Eur J Paediatr Neurol. 2002;6(2):121-3. doi: 10.1053/ejpn.2001.0558.

Leber's hereditary optic neuropathy.莱伯遗传性视神经病变

Ophthalmology. 2011 Jul;118(7):1489-1489.e1. doi: 10.1016/j.ophtha.2011.04.007.

The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.外显子组测序确定，编码线粒体酪氨酸-tRNA合成酶的YARS2中的突变是与Leber遗传性视神经病变相关的线粒体DNA突变表型表现的核修饰因子。

Hum Mol Genet. 2016 Feb 1;25(3):584-96. doi: 10.1093/hmg/ddv498. Epub 2015 Dec 8.

Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy.复合体 I 突变协同作用，使莱伯遗传性视神经病变的表型表达恶化。

J Biol Chem. 2020 Sep 18;295(38):13224-13238. doi: 10.1074/jbc.RA120.014603. Epub 2020 Jul 28.

Mitochondrial DNA mutation 14487T>C manifesting as Leber's hereditary optic neuropathy.表现为Leber遗传性视神经病变的线粒体DNA突变14487T>C

J Neurol. 2015 Dec;262(12):2776-9. doi: 10.1007/s00415-015-7955-5. Epub 2015 Nov 3.

The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.Leber 遗传性视神经病变的代谢组学特征揭示了内质网应激。

Brain. 2016 Nov 1;139(11):2864-2876. doi: 10.1093/brain/aww222.

Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers.线粒体DNA拷贝数可区分患有Leber遗传性视神经病变的个体与未受影响的突变携带者。

Brain. 2016 Jan;139(Pt 1):e1. doi: 10.1093/brain/awv216. Epub 2015 Jul 23.

Reply: Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers.回复：线粒体DNA拷贝数可区分患有Leber遗传性视神经病变的个体与未患病的突变携带者。

Brain. 2016 Jan;139(Pt 1):e2. doi: 10.1093/brain/awv217. Epub 2015 Jul 23.

本文引用的文献

Late-onset Leber's hereditary optic neuropathy presenting with longitudinally extensive myelitis harbouring the m.14484T>C mutation: Extending the genotype-phenotype spectrum.伴有m.14484T>C突变的纵向广泛脊髓炎表现的迟发性Leber遗传性视神经病变：扩展基因型-表型谱

Mult Scler Relat Disord. 2021 Feb;48:102688. doi: 10.1016/j.msard.2020.102688. Epub 2020 Dec 15.

MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis.Leber遗传性视神经病变的磁共振成像：与多发性硬化症的关系

J Neurol Neurosurg Psychiatry. 2015 May;86(5):537-42. doi: 10.1136/jnnp-2014-308186. Epub 2014 Jul 22.

Multiple sclerosis associated with Leber's Hereditary Optic Neuropathy.多发性硬化症与莱伯遗传性视神经病变相关。

J Neurol Sci. 2009 Nov 15;286(1-2):24-7. doi: 10.1016/j.jns.2009.09.009. Epub 2009 Oct 1.

Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy.莱伯氏“加征”：莱伯遗传性视神经病变患者的神经学异常

J Neurol Neurosurg Psychiatry. 1995 Aug;59(2):160-4. doi: 10.1136/jnnp.59.2.160.

Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation.患有Leber遗传性视神经病变线粒体DNA突变的女性中出现类似多发性硬化症的疾病。

Brain. 1992 Aug;115 ( Pt 4):979-89. doi: 10.1093/brain/115.4.979.

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