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学科主题: 临床医学
题名:
Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy
作者: 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
发表日期: 2009-02-01
DOI: 10.1111/j.1468-1331.2008.02397.x
卷: 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
所属项目编号: 2006BAI05A07 ; 2007CB5119004
项目资助者: National Key Research Project &prime ; 11-5&prime ; of China ; National Key Research Project &prime ; 973&prime ; of China
WOS记录号: WOS:000262468900024
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/50757
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 1, Dept Pediat, Beijing 100871, Peoples R China

Recommended Citation:
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.
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