Department of Neuroscience, Reproductive Sciences and Odontostomatology, University of Naples 'Federico II', Naples, Italy.
Department of Public Health, University of Naples 'Federico II', Naples, Italy.
Eur J Neurol. 2018 Feb;25(2):301-306. doi: 10.1111/ene.13494. Epub 2017 Dec 14.
The aim of our study was to describe, by a case-control and cross-sectional design, the correlation between clinical impairment and age in Charcot-Marie-Tooth type 1A (CMT1A) patients.
Seventy CMT1A patients and 70 sex- and age-matched healthy controls were enrolled. Motor performance was assessed through the 10-m walk test, the 6-min walk test and the 9-hole peg test of the dominant and non-dominant side, and muscle strength was measured by using the Medical Research Council score. In the CMT1A group, disability and quality of life were evaluated using the Charcot-Marie-Tooth Neuropathy Score (CMTNS) and the Short Form 36 (SF-36) questionnaire. Cross-sectional relationships between age and all clinical measures were analyzed and differences in the slopes between cases and controls were calculated. The occurrence of a structural change in the age-related progression of clinical measures was explored.
The deterioration of motor performance correlated with age in both groups with a greater slope in CMT1A patients than controls. The deterioration of CMTNS and SF-36 correlated with age in the CMT1A group. The deterioration of all clinical measures with the exception of the SF-36 questionnaire showed a structural change at the 50th year of age. The rate of deterioration was no different between patients and controls until 50 years of age, whereupon it became significantly greater in CMT1A patients.
Our study supports that the disease progression in CMT1A patients is an age-related process and the 50th year of age represents a critical moment after which the clinical decline becomes faster.
本研究通过病例对照和横断面设计，旨在描述 1A 型遗传性运动感觉神经病（CMT1A）患者的临床损伤与年龄之间的相关性。
共纳入 70 例 CMT1A 患者和 70 名性别和年龄匹配的健康对照者。采用 10m 步行试验、6 分钟步行试验和 9 孔钉板试验评估运动功能，采用医学研究委员会评分评估肌肉力量。在 CMT1A 组中，使用 Charcot-Marie-Tooth 神经病变评分（CMTNS）和简明 36 健康调查量表（SF-36）评估残疾和生活质量。分析了年龄与所有临床指标之间的横断面关系，并计算了病例组和对照组之间斜率的差异。探索了临床指标随年龄变化的结构变化。
两组的运动功能均随年龄恶化，CMT1A 患者的恶化斜率大于对照组。CMTNS 和 SF-36 在 CMT1A 组中与年龄相关。除 SF-36 问卷外，所有临床指标的恶化均显示出在第 50 年出现结构变化。在 50 岁之前，患者和对照组之间的恶化率没有差异，此后 CMT1A 患者的恶化率明显更快。
本研究支持 CMT1A 患者的疾病进展是一个与年龄相关的过程，第 50 年是一个关键时期，此后临床下降速度加快。
