Charcot-Marie-Tooth (CMT) disease is a genetically heterogeneous group of disorders. Pain is a less common symptom complained by CMT patients. We described a case of a 39-year-old male patient affect by Charcot-Marie-Tooth (CMT) disease compared to five healthy controls (HC), to assess the sensory and the nociceptive pathways by using LEPs recording associated to fMRI examination, to find an "objective" marker which could be used in the management of CMT patient. The nociceptive system was evaluated by laser-evoked potentials (LEPs). Moreover, fMRI (functional magnetic resonance imaging) examination, by using laser stimuli, was performed. LEPs' examination showed an increase of latency and an amplitude reduction respect to HC. The laser stimulation during fMRI showed a decreased cortical activations if compared to HC. The originality of this paper, although limited to a single case, resides in a detailed evaluation of CMT1 patient performed by using neurophysiologic and neuroimaging methods to investigate extensively the sensory nociceptive pathways.
Keywords: Charcot-Marie-Tooth; Laser-evoked potentials; Neuroimaging; Nociceptive system; Pain; fMRI.