Sheth Soham, Francies Kevin, Siskind Carly E, Feely Shawna M E, Lewis Richard A, Shy Michael E
Department of Neurology, Wayne State University, Detroit, MI 48201, USA.
J Peripher Nerv Syst. 2008 Dec;13(4):299-304. doi: 10.1111/j.1529-8027.2008.00196.x.
Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by a duplication of PMP22 on chromosome 17 and is the most commonly inherited demyelinating neuropathy. Diabetes frequently causes predominantly sensory neuropathy. Whether diabetes exacerbates CMT1A is unknown. We identified 10 patients with CMT1A and diabetes and compared their impairment with 48 age-matched control patients with CMT1A alone. Comparisons were made with the Charcot-Marie-Tooth disease (CMT) neuropathy score (CMTNS) and by electrophysiology. The CMTNS was significantly higher in patients with diabetes (20.25 +/- 2.35) compared with controls (15.19 +/- 0.69; p = 0.01). Values were particularly higher for motor signs and symptoms. Seven of the 10 diabetic patients had CMTNS >20 (severe CMT), while only 7 of the 48 age-matched controls had scores >20. There was a trend for CMT1A patients with diabetes to have low compound muscle action potentials and sensory nerve action potentials, although nerve conduction velocities were not slower in diabetic patients compared with controls. Diabetes was associated with more severe motor and sensory impairment in patients with CMT1A.
1型遗传性运动感觉神经病（CMT1A）由17号染色体上的外周髓鞘蛋白22（PMP22）基因重复所致，是最常见的遗传性脱髓鞘性神经病。糖尿病常导致以感觉神经病变为主的神经病变。糖尿病是否会加重CMT1A尚不清楚。我们纳入了10例患有CMT1A和糖尿病的患者，并将他们的损伤情况与48例年龄匹配的单纯患有CMT1A的对照患者进行比较。采用遗传性运动感觉神经病（CMT）神经病变评分（CMTNS）并通过电生理检查进行比较。糖尿病患者的CMTNS显著高于对照组（20.25±2.35比15.19±0.69；p = 0.01）。运动症状和体征的值尤其更高。10例糖尿病患者中有7例CMTNS>20（重度CMT），而48例年龄匹配的对照患者中只有7例得分>20。患有糖尿病的CMT1A患者有复合肌肉动作电位和感觉神经动作电位降低的趋势，尽管糖尿病患者的神经传导速度与对照组相比并未减慢。糖尿病与CMT1A患者更严重的运动和感觉损伤相关。
