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学科主题: 临床医学
题名:
A cohort study of Han Chinese MFN2-related Charcot-Marie-Tooth 2A
作者: Lv, He; Wang, Lu; Zhang, Wei; Wang, Zhaoxia; Zuo, Yuehuan; Liu, Jing; Yuan, Yun
关键词: Mitofusin 2 ; Early onset ; Hereditary neuropathy ; Charcot-Maria-Tooth ; Axonal neuropathy ; Pathology
刊名: JOURNAL OF THE NEUROLOGICAL SCIENCES
发表日期: 2015-11-15
DOI: 10.1016/j.jns.2015.08.1528
卷: 358, 期:1-2, 页:153-157
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]: MFN2 MUTATIONS ; DISEASE ; NEUROPATHY ; MITOFUSIN-2 ; ONSET ; CMT2A ; GENE ; TYPE-2 ; VARIABILITY ; FEATURES
英文摘要:

Background: Charcot-Marie-Tooth 2A (CMT2A) is caused by mutations in mitochondrial fusion protein mitofusin 2 (MFN2). CMT2A had a large variety of clinical symptoms and several cohort studies were published recently. This study is to summarized the clinical, electrophysiological, pathological and genetic features in Han Chinese CMT2A.

Methods: 20 patients from 12 unrelated Chinese families with MFN2 related CMT2A were collected. Clinical symptom, nerve conduction velocity study, sural nerve pathology and MFN2 gene mutation were retrospectively analyzed.

Results: We confirmed MFN2 gene mutation in 12 indexes. Nineteen of 20 (95%) patients were classified as early onset phenotypes of CMT2A, including four cases (20%) with infantile onset. Motor nerve conduction velocity (MNCV) of median nerve was above 38 m/s in 50% of patients and not recordable in remaining patients. MNCV was not affected by onset age, disease course and mutation site in different patients and MNCV had no correlation with severity of symptoms. Sural nerve biopsy revealed mixed axonal and demyelination change. Loss of myelinated fibers and atypical onions was found in all cases. Electron microscopic (EM) examination of sural nerve confirmed mitochondrial vacuation and aggregation both in myelinated and unmyelinated axons. Eight mutations were detected in 12 indexes, including two novel mutations. The amino acid residue at position 94 of MFN2 protein was a hot spot in Han Chinese patients, followed by R104W.

Conclusions: Eraly onset, even infantile onset was more common in our Chinese population. MNCV of median nerve could be either above 38 m/s or unrecordable in CMT2A. Pathologically, mixed axon and myelin change should be considered since onion change was frequently observed in most CIVIT2A. (C) 2015 Elsevier B.V. All rights reserved.

语种: 英语
WOS记录号: WOS:000365050200025
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/65835
Appears in Collections:北京大学第一临床医学院_神经内科_期刊论文

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作者单位: Peking Univ, Hosp 1, Dept Neurol, Beijing 100034, Peoples R China

Recommended Citation:
Lv, He,Wang, Lu,Zhang, Wei,et al. A cohort study of Han Chinese MFN2-related Charcot-Marie-Tooth 2A[J]. JOURNAL OF THE NEUROLOGICAL SCIENCES,2015,358(1-2):153-157.
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