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本文引用的文献

1
Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.CMT 神经病评分（第二版）在 Charcot-Marie-Tooth 病中的可靠性。
J Peripher Nerv Syst. 2011 Sep;16(3):191-8. doi: 10.1111/j.1529-8027.2011.00350.x.
2
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial.抗坏血酸治疗 1A 型腓骨肌萎缩症（CMT-TRIAAL 和 CMT-TRAUK）：一项双盲随机试验。
Lancet Neurol. 2011 Apr;10(4):320-8. doi: 10.1016/S1474-4422(11)70025-4.
3
Diagnosis and new treatments in genetic neuropathies.遗传性神经病的诊断与新疗法
J Neurol Neurosurg Psychiatry. 2009 Dec;80(12):1304-14. doi: 10.1136/jnnp.2008.158295.
4
Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A.1A型和2A型夏科-马里-图斯病的不同临床和磁共振成像特征。
Neuromuscul Disord. 2008 Aug;18(8):610-8. doi: 10.1016/j.nmd.2008.05.012. Epub 2008 Jul 7.
5
Neuropathy progression in Charcot-Marie-Tooth disease type 1A.1A型遗传性运动感觉神经病的神经病变进展
Neurology. 2008 Jan 29;70(5):378-83. doi: 10.1212/01.wnl.0000297553.36441.ce.
6
CMT1X phenotypes represent loss of GJB1 gene function.CMT1X 表型代表 GJB1 基因功能丧失。
Neurology. 2007 Mar 13;68(11):849-55. doi: 10.1212/01.wnl.0000256709.08271.4d.
7
Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.夏科-马里-图思病中突变蛋白的发病机制
Neuromolecular Med. 2006;8(1-2):217-42. doi: 10.1385/nmm:8:1-2:217.
8
Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles.1A型遗传性运动感觉神经病重复：小腿和足部肌肉的临床及磁共振成像特征谱
Brain. 2006 Feb;129(Pt 2):426-37. doi: 10.1093/brain/awh693. Epub 2005 Nov 29.
9
Reliability and validity of the CMT neuropathy score as a measure of disability.CMT神经病变评分作为残疾衡量指标的可靠性和有效性。
Neurology. 2005 Apr 12;64(7):1209-14. doi: 10.1212/01.WNL.0000156517.00615.A3.
10
Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A.1A型遗传性运动感觉神经病中的神经功能障碍和轴突变性。
Brain. 2000 Jul;123 ( Pt 7):1516-27. doi: 10.1093/brain/123.7.1516.

胫骨前肌 CMAP 幅度与 CMT1A 损害的相关性。

Anterior tibialis CMAP amplitude correlations with impairment in CMT1A.

机构信息

Wayne State University-Detroit Medical Center, Department of Neurology, 4201 Saint Antoine Street, UHC 8C.28, Detroit, Michigan 48201, USA.

出版信息

Muscle Nerve. 2013 Apr;47(4):493-6. doi: 10.1002/mus.23614. Epub 2013 Mar 3.

DOI:10.1002/mus.23614
PMID:23456782
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3608739/
Abstract

INTRODUCTION

CMT1A is the most common form of Charcot-Marie-Tooth disease (CMT), a slowly progressive neuropathy in which impairment is length dependent. Fibular nerve conduction studies to the anterior tibialis muscle (AT) may serve as a physiological marker of disease progression in patients with CMT1A. The objective of this study is to determine whether the AT compound muscle action potential (CMAP) amplitude correlates with impairment in patients with CMT1A.

METHODS

We correlated AT CMAP amplitudes and impairment measured by the CMT Neuropathy Score (CMTNS) in a cross-section of 121 patients with CMT1A and a subset of 27 patients with longitudinal data.

RESULTS

AT CMAP amplitudes correlated with impairment as measured by the CMTNS in cross sectional analysis. Longitudinal changes in the AT CMAP showed a strong inverse correlation with leg strength but not other components of the CMTNS.

CONCLUSIONS

AT CMAP amplitude may serve as a useful outcome measure for physiological changes in natural history studies and clinical trials for patients with CMT1A.

摘要

简介

CMT1A 是最常见的遗传性周围神经病（Charcot-Marie-Tooth disease，CMT）类型，其特征为进行性运动感觉周围神经病，以神经传导速度减慢和轴索损害为主。腓肠神经运动传导速度（MCV）检测可作为疾病进展的生物学标记。本研究旨在探讨腓肠神经运动传导至胫骨前肌复合肌肉动作电位（CMAP）波幅与 CMT1A 患者神经功能障碍的相关性。

方法

我们分析了 121 例 CMT1A 患者的横断面数据，以及 27 例具有纵向数据的患者的部分数据，将 AT CMAP 波幅与 CMT 神经病变评分（CMTNS）所测的神经功能障碍进行相关性分析。

结果

横断面研究中，AT CMAP 波幅与 CMTNS 所测的神经功能障碍相关。AT CMAP 波幅的纵向变化与下肢肌力呈强烈负相关，与 CMTNS 的其他组成部分无关。

结论

AT CMAP 波幅可能是 CMT1A 自然病史研究和临床试验中反映生理变化的有用的结局指标。