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学科主题: 临床医学
题名:
Neuropathologic and clinical features in eight Chinese patients with Leigh disease
作者: Jiang, YW; Qin, J; Yuan, Y; Qi, Y; Wu, XR
刊名: JOURNAL OF CHILD NEUROLOGY
发表日期: 2002-06-01
卷: 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
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/64940
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: Peking Univ, Hosp 1st, Dept Pediat, Beijing 10034, Peoples R China

Recommended Citation:
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.
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