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Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy
Wu, Y.; Jiang, Y.; Gao, Z.; Wang, J.; Yuan, Y.; Xiong, H.; Chang, X.; Bao, X.; Zhang, Y.; Xiao, J.; Wu, X.
关键词Chinese Infantile Neuroaxonal Dystrophy Mutation Pla2g6
刊名EUROPEAN JOURNAL OF NEUROLOGY
2009-02-01
DOI10.1111/j.1468-1331.2008.02397.x
16期:2页:240-245
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology ; Neurosciences
研究领域[WOS]Neurosciences & Neurology
关键词[WOS]INDEPENDENT PHOSPHOLIPASE A(2) ; SPECTRUM
英文摘要

Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder. The most typical neuropathological finding of this disease is axonal swelling. Before the identification of associated mutations in PLA2G6-encoding iPLA(2)-VIA (cytosolic Ca(2+)-independent phospholipids A(2), group VIA) in 2006, neuropathological evidence was critical for definitive diagnosis. Only five genetic studies in INAD patients have been published worldwide, wherein 44 mutations were reported. To define the clinical and genetic characteristics of Chinese patients with INAD, 10 cases were analyzed.

For 10 cases of INAD, extensive clinical investigations, neuropathological examination, and mutation screening in PLA2G6 were performed.

All cases displayed typical clinical features. Axonal swelling was found in skin or sural nerve biopsy specimens in three cases. Twelve PLA2G6 mutations were identified, nine of which were novel. These novel mutations include six missense, one abolishing the normal start codon, one nonsense, and one splice-site mutation.

The nine novel mutations identified in this study suggest the uniqueness of the PLA2G6 mutation spectrum in Chinese patients, and greatly extends the spectrum of known mutations in INAD patients. In addition to pathological evidence, genetic analysis can inform definitive diagnosis of INAD.

语种英语
WOS记录号WOS:000262468900024
项目编号2006BAI05A07 ; 2007CB5119004
资助机构National Key Research Project &prime ; 11-5&prime ; of China ; National Key Research Project &prime ; 973&prime ; of China
引用统计
被引频次:34[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/400002259/50757
专题北京大学第一临床医学院_儿科
北京大学基础医学院
北京大学护理学院_护理学院
北京大学第三临床医学院_运动医学研究所
作者单位Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China
推荐引用方式
GB/T 7714
Wu, Y.,Jiang, Y.,Gao, Z.,et al. Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy[J]. EUROPEAN JOURNAL OF NEUROLOGY,2009,16(2):240-245.
APA Wu, Y..,Jiang, Y..,Gao, Z..,Wang, J..,Yuan, Y..,...&Wu, X..(2009).Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy.EUROPEAN JOURNAL OF NEUROLOGY,16(2),240-245.
MLA Wu, Y.,et al."Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy".EUROPEAN JOURNAL OF NEUROLOGY 16.2(2009):240-245.
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