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Wiley, Muscle & Nerve, 5(46), p. 698-704

DOI: 10.1002/mus.23377

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Corneal confocal microscopy detects small-fiber neuropathy in Charcot–Marie–Tooth disease type 1A patients

This paper is available in a repository.
This paper is available in a repository.

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Data provided by SHERPA/RoMEO

Abstract

INTRODUCTION: Although unmyelinated nerve fibers are affected in Charcot-Marie-Tooth type 1A (CMT1A) disease, they have not been studied in detail due to the invasive nature of the techniques needed to study them. We established alterations in C-fiber bundles of the cornea in patients with CMT1A using non-invasive corneal confocal microscopy (CCM). METHODS: Twelve patients with CMT1A and 12 healthy control subjects underwent assessment of neuropathic symptoms and deficits, electrophysiology, quantitative sensory testing, corneal sensitivity, and corneal confocal microscopy. RESULTS: Corneal sensitivity, corneal nerve fiber density, corneal nerve branch density, corneal nerve fiber length, and corneal nerve fiber tortuosity were significantly reduced in CMT1A patients compared with controls. There was a significant correlation between corneal sensation and CCM parameters with the severity of painful neuropathic symptoms, cold and warm thresholds, and median nerve CMAP amplitude. CONCLUSIONS: CCM demonstrates significant damage to C-fiber bundles, which relates to some measures of neuropathy in CMT1A patients.