Neuropathic pain in Charcot–Marie‐Tooth disease: A clinical and laser‐evoked potential study

摘要

Abstract Background Pain, either nociceptive or neuropathic (NP), is a common symptom in Charcot–Marie‐Tooth (CMT) disease. Methods We investigated small fibers involvement and its correlation with pain in different CMT subtypes through a systematic clinical and neurophysiological study. We enrolled 50 patients: 19 with duplication of PMP22 (CMT1A), 11 with mutation of MPZ (CMT1B, CMT2I/J, or CMTDID), 12 with mutation of GJB1 (CMTX1), and 8 with mutation of MFN2 (CMT2A and CMT2A2B). Pain was rated with the 11‐point Numerical Rating Scale and characterized through Neuropathic Pain Symptoms Inventory. Laser‐evoked potentials (LEPs) were recorded after right foot and hand stimulation and N2–P2 complex amplitude and latency were compared with those of 41 controls. Results Overall pain prevalence was 36%. NP was present in 14.6% of patients, with a length‐dependent distribution in 85.7% of cases, and it was significantly more frequent in CMT1A (p?