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Extended spinal cord involvement in adult-onset Leigh syndrome due to mitochondrial 10197G > A mutation.

作者信息

Wei Yanping, Qian Min, Yang Yingmai

机构信息

Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing Shuaifuyuan 1, Dongcheng District, Beijing, 100730, People's Republic of China.

出版信息

Neurol Sci. 2022 Dec;43(12):6997-7000. doi: 10.1007/s10072-022-06305-3. Epub 2022 Jul 31.

DOI:10.1007/s10072-022-06305-3
PMID:35907985
Abstract
摘要

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Extended spinal cord involvement in adult-onset Leigh syndrome due to mitochondrial 10197G > A mutation.线粒体10197G > A突变导致的成人起病型 Leigh 综合征中的脊髓广泛受累。
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引用本文的文献

1
Clinical spectrum, treatment and outcomes of the m.10197G>A mutation in MT-ND3: a case report, systematic review and meta-analysis.MT-ND3基因m.10197G>A突变的临床谱、治疗及预后：一例报告、系统评价和荟萃分析
Orphanet J Rare Dis. 2025 Feb 8;20(1):59. doi: 10.1186/s13023-025-03588-5.
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Leigh Syndrome due to Variants: A Case Presentation and the Review of the Literature.由变异导致的 Leigh 综合征：病例报告及文献综述
Mol Syndromol. 2024 Aug;15(4):333-338. doi: 10.1159/000536676. Epub 2024 Mar 4.
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Reversible Vasoconstriction Syndrome Is a Complication of SARS-CoV-2 Infection/Vaccination Rather than That of Leigh Syndrome.

本文引用的文献

1
Primary Mitochondrial Disorders of the Pediatric Central Nervous System: Neuroimaging Findings.儿童中枢神经系统原发性线粒体疾病：神经影像学表现。
Radiographics. 2020 Nov-Dec;40(7):2042-2067. doi: 10.1148/rg.2020200052.
2
Hormone replacement therapy in Leber's hereditary optic neuropathy: Accelerated visual recovery in vivo.激素替代疗法治疗Leber遗传性视神经病变：体内视觉恢复加速
J Curr Ophthalmol. 2018 Nov 3;31(1):102-105. doi: 10.1016/j.joco.2018.10.003. eCollection 2019 Mar.
3
Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability.
可逆性血管收缩综合征是新型冠状病毒感染/疫苗接种的并发症，而非 Leigh 综合征的并发症。
Intern Med. 2023 Jul 15;62(14):2157. doi: 10.2169/internalmedicine.1559-23. Epub 2023 Apr 21.
m.10197G>A 线粒体 DNA 突变的临床和神经影像学特征：新病例报告及表型变异扩展。
J Neurol Sci. 2019 Apr 15;399:69-75. doi: 10.1016/j.jns.2019.02.010. Epub 2019 Feb 6.
4
Mitochondrial DNA mutations in late-onset Leigh syndrome.晚发性 Leigh 综合征中的线粒体 DNA 突变。
J Neurol. 2018 Oct;265(10):2388-2395. doi: 10.1007/s00415-018-9014-5. Epub 2018 Aug 20.
5
Mild clinical manifestation and unusual recovery upon coenzyme Q₁₀ treatment in the first Chinese Leigh syndrome pedigree with mutation m.10197 G>A.中国首个携带m.10197 G>A突变的Leigh综合征家系中辅酶Q₁₀治疗后的轻微临床表现及异常恢复情况
Mol Med Rep. 2015 Mar;11(3):1956-62. doi: 10.3892/mmr.2014.2911. Epub 2014 Nov 10.
6
The mitochondrial DNA 10197 G > A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia.线粒体DNA 10197 G>A突变导致伴有急性听觉失认症的MELAS/Leigh重叠综合征。
Mitochondrial DNA. 2015 Apr;26(2):208-12. doi: 10.3109/19401736.2014.905860. Epub 2014 Apr 8.
7
A guide to diagnosis and treatment of Leigh syndrome. Leigh 综合征的诊断与治疗指南。
J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):257-65. doi: 10.1136/jnnp-2012-304426. Epub 2013 Jun 14.
8
Early spinal cord and brainstem involvement in infantile Leigh syndrome possibly caused by a novel variant.早期脊髓和脑干受累于可能由一种新型变异引起的婴儿型 Leigh 综合征。
J Child Neurol. 2013 Dec;28(12):1681-5. doi: 10.1177/0883073812464273. Epub 2012 Nov 8.
9
Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.线粒体ND3作为Leber遗传性视神经病变和肌张力障碍的新型致病基因。
Neurogenetics. 2009 Oct;10(4):337-45. doi: 10.1007/s10048-009-0194-0. Epub 2009 May 21.
10
Leigh and Leigh-like syndrome in children and adults.儿童及成人的 Leigh 综合征和 Leigh 样综合征
Pediatr Neurol. 2008 Oct;39(4):223-35. doi: 10.1016/j.pediatrneurol.2008.07.013.