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学科主题临床医学
Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G > A mutation, and neuropathological findings in one autopsy case
Wang, Zhaoxia1; Qi, Xiao Kun2; Yao, Sheng2; Chen, Bin1; Luan, Xinghua1; Zhang, Wei1; Han, Manfu3; Yuan, Yun1
关键词m 13513G > A mutation MELAS LS overlap syndrome Mitochondrial DNA MRI neuropathology
刊名NEUROPATHOLOGY
2010-12-01
DOI10.1111/j.1440-1789.2010.01115.x
30期:6页:606-614
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology ; Neurosciences ; Pathology
研究领域[WOS]Neurosciences & Neurology ; Pathology
关键词[WOS]MITOCHONDRIAL 13513G-GREATER-THAN-A MUTATION ; WOLFF-PARKINSON-WHITE ; COMPLEX-I-DEFICIENCY ; DNA G13513A MUTATION ; LEIGH-SYNDROME ; ND5 GENE ; CLINICAL-FEATURES ; MTDNA MUTATION ; FREQUENT CAUSE ; DISEASE
英文摘要

The 13513G > A mutation in the ND5 gene of mitochondrial DNA (mtDNA) is usually associated with mitochondrial encephalomyopathy with lactate acidosis and stroke-like episodes (MELAS), or Leigh syndrome (LS). In this study, we describe three young Chinese patients with MELAS/LS overlap syndrome who carried the m.13513G > A mutation. Clinical and MRI features were characteristic of both MELAS and LS. Interestingly, the clinical presentation of this overlap syndrome could be variable depending on the degree of relative contribution of MELAS and LS, that is, MELAS as the initial presenting syndrome, LS as the predominant syndrome, or both MELAS and LS appearing at the same time. The final brain MRI showed findings characteristic of both MELAS and LS, with asymmetrical lesions in the cortex and subcortical white matter of the occipital, temporal, and frontal lobes (MELAS), and bilateral and symmetrical lesions in the basal ganglia and brainstem (LS). Brain autopsy in one case revealed infarct-like lesions in the cerebral cortex, basal ganglia and brainstem, providing further insight into the distribution of the pathological lesions in MELAS/LS overlap syndrome. This is the first report of the brain pathological changes in a patient with m.13513G > A mutation. The spatial distribution of infarct-like lesions in the brain could explain the symptoms in MELAS/LS overlap syndrome.

语种英语
WOS记录号WOS:000284616500006
项目编号30870864
资助机构National Natural Science Foundation of China
引用统计
被引频次:16[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/68092
专题北京大学第一临床医学院_神经内科
北京大学第二临床医学院_血液科
作者单位1.Peking Univ, Dept Neurol, Hosp 1, Beijing 100034, Peoples R China
2.Navy Gen Hosp, Dept Neurol, Beijing, Peoples R China
3.Second Peoples Hosp Shenzhen, Dept Neurol, Shenzhen, Peoples R China
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GB/T 7714
Wang, Zhaoxia,Qi, Xiao Kun,Yao, Sheng,et al. Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G > A mutation, and neuropathological findings in one autopsy case[J]. NEUROPATHOLOGY,2010,30(6):606-614.
APA Wang, Zhaoxia.,Qi, Xiao Kun.,Yao, Sheng.,Chen, Bin.,Luan, Xinghua.,...&Yuan, Yun.(2010).Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G > A mutation, and neuropathological findings in one autopsy case.NEUROPATHOLOGY,30(6),606-614.
MLA Wang, Zhaoxia,et al."Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G > A mutation, and neuropathological findings in one autopsy case".NEUROPATHOLOGY 30.6(2010):606-614.
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