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Keywords:

  • Charcot-Marie-Tooth neuropathy;
  • in vivo reflectance confocal microscopy;
  • Meissner corpuscles;
  • outcome measures;
  • sensation

Reliable, valid, and responsive outcomes for different aspects of Charcot-Marie-Tooth (CMT) neuropathy have become increasingly important in an emerging era of therapy development. Measures of the sensory component of CMT in particular are limited. One novel approach with potential applicability to CMT is non-invasive in vivo reflectance confocal microscopy (RCM) of Meissner corpuscles (MCs). In this prospective study, we evaluated MC densities using RCM, and touch-pressure and vibration sensation thresholds in a cohort of Charcot-Marie-Tooth type 1A (CMT1A) subjects with comparison to healthy controls. MC density was lower in CMT1A subjects than in controls at the fingertip (digit V) (2.59 ± 2.73 MCs/mm2 vs. 6.77 ± 3.68 MCs/mm2, p = 0.001), but not more proximally at the thenar eminence. Touch-pressure thresholds were higher in CMT1A than in controls at digit V (p = 0.002) and at the thenar eminence (p = 0.0001). Vibration thresholds in CMT1A at digit V were also higher than in controls (p = 0.0001). A lower MC density at digit V was associated with greater global CMT severity as reflected by the Charcot-Marie-Tooth neuropathy score (CMTNS) (r = −0.76, p = 0.004) and the Neuropathy impairment score (NIS) (r = −0.73, p = 0.007). Similarly, worse touch-pressure thresholds at the fingertip (digit V) were associated with more severe CMT1A on the CMTNS (r = 0.71, p = 0.009) and NIS (r = 0.70, p = 0.011). Vibration thresholds at digit V were not associated with either the CMTNS (r = 0.11, p = 0.74) or NIS (r = 0.21, p = 0.52). Non-invasive in vivo RCM of MC density at the hand and the evaluation of touch-pressure thresholds show promise as measures of sensory structure and function in CMT1A.