Small nerve fiber involvement in CMT1A

Maria Nolano, Fiore Manganelli, Vincenzo Provitera, Chiara Pisciotta, Annamaria Stancanelli, Giuseppe Caporaso, Rosa Iodice, Michael E. Shy, Lucio Santoro

Research output: Contribution to journalArticle

Abstract

Objective: To assess the involvement of small nerve fibers in Charcot-Marie-Tooth type 1A (CMT1A). Methods: We used indirect immunofluorescence and confocal microscopy on punch biopsies from glabrous (fingertip) and hairy (thigh and leg) skin of 20 unrelated patients with CMT1A to quantify somatic and autonomic nerve fibers. In particular, we quantified epidermal nerve fibers (ENF), Meissner corpuscles (MC), intrapapillary myelinated endings (IME), and sudomotor nerves. We correlated morphologic data with findings from quantitative sensory testing, sudomotor output, sympathetic skin response, and cardiovascular reflexes. A control population of healthy ageand sex-matched controls was included with a matching ratio of 1:2. Results: We found a length-dependent loss of ENFs that worsened with aging. We also observed a loss of MCs, IMEs, and sudomotor nerves. The loss of ENF at distal leg correlated with the increase in heat-pain thresholds (p <0.05) and with tactile thresholds (p <0.05). Sudomotor nerve fiber loss correlated with ENF density (p <0.05) and sweating output (p <0.001). Conclusions: Wedemonstrated throughmorphologic, physical, and psychophysical testing that small somatic and autonomic fibers are abnormal and cause symptoms in patients with CMT1A. Awareness of such symptoms by the clinician could lead to better treatment.

Original languageEnglish
Pages (from-to)407-414
Number of pages8
JournalNeurology
Volume84
Issue number4
DOIs
Publication statusPublished - 2015

ASJC Scopus subject areas

  • Clinical Neurology

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    Nolano, M., Manganelli, F., Provitera, V., Pisciotta, C., Stancanelli, A., Caporaso, G., Iodice, R., Shy, M. E., & Santoro, L. (2015). Small nerve fiber involvement in CMT1A. Neurology, 84(4), 407-414. https://doi.org/10.1212/WNL.0000000000001188