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学科主题临床医学
Neuropathologic and clinical features in eight Chinese patients with Leigh disease
Jiang, YW; Qin, J; Yuan, Y; Qi, Y; Wu, XR
刊名JOURNAL OF CHILD NEUROLOGY
2002-06-01
17期:6页:450-452
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology ; Pediatrics
研究领域[WOS]Neurosciences & Neurology ; Pediatrics
关键词[WOS]MITOCHONDRIAL-DNA ; MUTATIONS ; CHILDREN
英文摘要

We present the neuropathologic and clinical features of eight Chinese patients with Leigh disease. Five cases had onset before I year of age, the other three after I year of age. Cranial magnetic resonance imaging (MRI) demonstrated symmetric and bilateral long T-1 and long T-2 lesions mainly in the basal ganglia and brain stem. The putamen was most commonly and severely affected. Brain neuropathologic examinations showed multiple symmetric foci of degeneration and necrosis with capillary proliferation and dilation. In contrast to previous reports, these foci were mainly in the brain stem, not the basal ganglia. We examined mitochondrial DNA from three patients and found the T8993G mitochondrial DNA mutation in one of them. This patient inherited the mutation from his mother, who does not display any symptoms now. From this study, we found that the nuclei in the brain stem can be more frequently affected than those in the basal ganglia.

语种英语
WOS记录号WOS:000177202900011
引用统计
被引频次:5[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/400002259/64940
专题北京大学第一临床医学院_儿科
作者单位Peking Univ, Hosp 1st, Dept Pediat, Beijing 10034, Peoples R China
推荐引用方式
GB/T 7714
Jiang, YW,Qin, J,Yuan, Y,et al. Neuropathologic and clinical features in eight Chinese patients with Leigh disease[J]. JOURNAL OF CHILD NEUROLOGY,2002,17(6):450-452.
APA Jiang, YW,Qin, J,Yuan, Y,Qi, Y,&Wu, XR.(2002).Neuropathologic and clinical features in eight Chinese patients with Leigh disease.JOURNAL OF CHILD NEUROLOGY,17(6),450-452.
MLA Jiang, YW,et al."Neuropathologic and clinical features in eight Chinese patients with Leigh disease".JOURNAL OF CHILD NEUROLOGY 17.6(2002):450-452.
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