IR@PKUHSC  > 北京大学第一临床医学院  > 神经内科
学科主题临床医学
HETEROGENEITY OF AXONAL PATHOLOGY IN CHINESE PATIENTS WITH GIANT AXONAL NEUROPATHY
Wang, Lu; Zhao, Danhua; Wang, Zhaoxia; Zhang, Wei; Lv, He; Liu, Xiao; Meng, Lingchao; Yuan, Yun
关键词gene mutation giant axonal neuropathy gigaxonin protein neurofilament protein tubular-like structure
刊名MUSCLE & NERVE
2014-08-01
DOI10.1002/mus.24130
50期:2页:200-205
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]GENOTYPE-PHENOTYPE ; ALGERIAN FAMILY ; GAN ; GIGAXONIN ; GENE ; MUTATIONS ; DISEASE
英文摘要

Introduction: Giant axonal neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the GAN gene. Herein we report ultrastructural changes in Chinese patients with GAN. Methods: General clinical assessment, sural nerve biopsy, and genetic analysis were performed. Results: Sural biopsy revealed giant axons in 3 patients, 2 with a mild phenotype and 1 with a classical phenotype. Ultrastructurally, all patients had giant axons filled with closely packed neurofilaments. In addition, the classical patient had some axons containing irregular tubular-like structures. GAN mutation analysis revealed novel compound heterozygous c.98A>C and c.158C>T mutations in the BTB domain in 1 mild patient, a novel homozygous c.371T>G mutation in the BACK domain in another mild patient, and a novel c.1342G>T homozygous mutation in the Kelch domain in the classical patient. Conclusion: Closely packed neurofilaments in giant axons are common pathological changes in Chinese patients with GAN, whereas irregular tubular-like structures appear in the classical type of this neuropathy.

语种英语
WOS记录号WOS:000340237500008
项目编号2011ZX09307-001-07
资助机构Twelfth Five-Year Plan of China
引用统计
被引频次:1[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/400002259/60504
专题北京大学第一临床医学院_神经内科
作者单位Peking Univ, Dept Neurol, Hosp 1, Beijing 100034, Peoples R China
推荐引用方式
GB/T 7714
Wang, Lu,Zhao, Danhua,Wang, Zhaoxia,et al. HETEROGENEITY OF AXONAL PATHOLOGY IN CHINESE PATIENTS WITH GIANT AXONAL NEUROPATHY[J]. MUSCLE & NERVE,2014,50(2):200-205.
APA Wang, Lu.,Zhao, Danhua.,Wang, Zhaoxia.,Zhang, Wei.,Lv, He.,...&Yuan, Yun.(2014).HETEROGENEITY OF AXONAL PATHOLOGY IN CHINESE PATIENTS WITH GIANT AXONAL NEUROPATHY.MUSCLE & NERVE,50(2),200-205.
MLA Wang, Lu,et al."HETEROGENEITY OF AXONAL PATHOLOGY IN CHINESE PATIENTS WITH GIANT AXONAL NEUROPATHY".MUSCLE & NERVE 50.2(2014):200-205.
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