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学科主题临床医学
Clinical and genetic study in Chinese patients with Alexander disease
Wu, Ye; Gu, Qiang; Wang, Jingmin; Yang, Yanling; Wu, Xiru; Jiang, Yuwu
关键词Leukoencephalopathy Alexander Disease Gfap
刊名JOURNAL OF CHILD NEUROLOGY
2008-02-01
DOI10.1177/0883073807308691
23期:2页:173-177
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]FIBRILLARY ACIDIC PROTEIN ; GFAP MUTATIONS
英文摘要

Alexander disease is a rare progressive leukoencephalopathy inherited in an autosomal dominant manner. The infantile form is the most common, with onset before 2 years of age. The typical clinical signs include psychomotor retardation and regression, seizures, and megalencephaly. juvenile and adult forms are also recognized. The neuropathology of Alexander disease is characterized by abundant presence of Rosenthal fibers in astrocytes in the brain. GFAP has been identified to be the only gene associated with Alexander disease since 2001. Only I patient with Alexander disease confirmed by genetic testing has been reported in mainland China. To get further information of the clinical and genetic characteristics of Chinese patients, we analyzed an additional 3 cases with the infantile or juvenile form. A novel mutation, Y83H, and a previously reported mutation, R88C, were identified in these patients. Both mutations were heterozygous and de novo. The results of this research expand the number of patients with Alexander disease found to have GFAP coding mutations in mainland China. A novel missense mutation, Y83H, is identified.

语种英语
WOS记录号WOS:000254057100007
引用统计
被引频次:2[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/400002259/53146
专题北京大学第一临床医学院_儿科
作者单位Peking Univ, First Hosp, Dept Pediat, Beijing 100034, Peoples R China
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GB/T 7714
Wu, Ye,Gu, Qiang,Wang, Jingmin,et al. Clinical and genetic study in Chinese patients with Alexander disease[J]. JOURNAL OF CHILD NEUROLOGY,2008,23(2):173-177.
APA Wu, Ye,Gu, Qiang,Wang, Jingmin,Yang, Yanling,Wu, Xiru,&Jiang, Yuwu.(2008).Clinical and genetic study in Chinese patients with Alexander disease.JOURNAL OF CHILD NEUROLOGY,23(2),173-177.
MLA Wu, Ye,et al."Clinical and genetic study in Chinese patients with Alexander disease".JOURNAL OF CHILD NEUROLOGY 23.2(2008):173-177.
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