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学科主题: 临床医学
题名:
Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G > A mutation, and neuropathological findings in one autopsy case
作者: 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
发表日期: 2010-12-01
DOI: 10.1111/j.1440-1789.2010.01115.x
卷: 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
所属项目编号: 30870864
项目资助者: National Natural Science Foundation of China
WOS记录号: WOS:000284616500006
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/68092
Appears in Collections:北京大学第一临床医学院_神经内科_期刊论文

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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

Recommended Citation:
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.
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