Neuropathy progression in Charcot-Marie-Tooth disease type 1A
Neuropathy progression in Charcot-Marie-Tooth disease type 1A
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DOI：
10.1212/01.wnl.0000297553.36441.ce
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发表时间：
2008-01-29
期刊：
影响因子：
9.9
通讯作者：
McDermott, M. P.
中科院分区：
文献类型：
--
作者：
Shy, M. E.;Chen, L.;McDermott, M. P.
目的：了解1A型腓骨肌萎缩症（CMT1A）的疾病进展率。背景：CMT1A是最常见的遗传性周围神经病变，影响约1.5万人，无论种族背景或性别。目前还没有治疗CMT1A的方法。使用CMT神经病变评分（CMTNS）作为主要结果变量的临床试验正在启动，CMTNS是一种基于患者症状、体征和神经生理异常的综合评分。作为衡量CMT1A进展的指标，CMTNS或任何其他评分随时间变化的敏感性尚未确定。方法：我们测定了72例患者的CMTNS和神经病变损伤评分（NIS），随访时间长达8年。使用混合效应线性回归模型评估CMTNS和NIS的疾病进展率，调整年龄和性别。结果：CMTNS和NIS均随时间变化。CMTNS平均每年增加0.686点(95% Cl 0.461 ~ 0.911, p
Objective: To determine the rate of disease progression in Charcot-Marie-Tooth disease type 1A (CMT1A).Background: CMT1A is the most common inherited peripheral neuropathy, affecting approximately 1: 5,000 people irrespective of ethnic background or gender. There is no cure for CMT1A. Clinical trials are being initiated that use the CMT Neuropathy Score (CMTNS), a composite score based on patient symptoms, signs, and neurophysiologic abnormalities, as the primary outcome variable. The sensitivity of the CMTNS or any other score to change over time, as a measure of CMT1A progression, has yet to be determined.Methods: We determined the CMTNS as well as the Neuropathy Impairment Score (NIS) on 72 patients followed for up to 8 years. The rate of disease progression was evaluated for the CMTNS and NIS using mixed effects linear regression models, adjusting for age and gender. Results: Both CMTNS and NIS showed changes over time. The CMTNS increased an average of 0.686 points per year (95% Cl 0.461 to 0.911, p