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

doi:10.1212/WNL.0000000000001188

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Small nerve fiber involvement in CMT1A

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

Neurology, Vol.84(4), pp.407-414

01/27/2015

DOI: 10.1212/WNL.0000000000001188

PMCID: PMC4336000

PMID: 25540311

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Abstract

To assess the involvement of small nerve fibers in Charcot-Marie-Tooth type 1A (CMT1A). 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 age- and sex-matched controls was included with a matching ratio of 1:2. 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). We demonstrated through morphologic, 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.

Nerve Fibers - pathology

Age Factors

Humans

Middle Aged

Male

Charcot-Marie-Tooth Disease - pathology

Mechanoreceptors - pathology

Sweat Glands - innervation

Nerve Fibers, Myelinated - pathology

Skin - innervation

Adult

Female

Charcot-Marie-Tooth Disease - physiopathology

Epidermis - innervation

Skin - pathology

Details

Title: Subtitle: Small nerve fiber involvement in CMT1A
Creators: Maria Nolano - From the Neurology Division (M.N., V.P., A.S., G.C.), "Salvatore Maugeri" Foundation, Institute of Telese Terme; the Department of Neurosciences, Reproductive and Odontostomatological Sciences (F.M., C.P., R.I., L.S.), University Federico II of Naples, Italy; and the Department of Neurology (M.E.S.), University of Iowa, Iowa City. maria.nolano@fsm.it
Fiore Manganelli - From the Neurology Division (M.N., V.P., A.S., G.C.), "Salvatore Maugeri" Foundation, Institute of Telese Terme; the Department of Neurosciences, Reproductive and Odontostomatological Sciences (F.M., C.P., R.I., L.S.), University Federico II of Naples, Italy; and the Department of Neurology (M.E.S.), University of Iowa, Iowa City
Vincenzo Provitera - From the Neurology Division (M.N., V.P., A.S., G.C.), "Salvatore Maugeri" Foundation, Institute of Telese Terme; the Department of Neurosciences, Reproductive and Odontostomatological Sciences (F.M., C.P., R.I., L.S.), University Federico II of Naples, Italy; and the Department of Neurology (M.E.S.), University of Iowa, Iowa City
Chiara Pisciotta - From the Neurology Division (M.N., V.P., A.S., G.C.), "Salvatore Maugeri" Foundation, Institute of Telese Terme; the Department of Neurosciences, Reproductive and Odontostomatological Sciences (F.M., C.P., R.I., L.S.), University Federico II of Naples, Italy; and the Department of Neurology (M.E.S.), University of Iowa, Iowa City
Annamaria Stancanelli - From the Neurology Division (M.N., V.P., A.S., G.C.), "Salvatore Maugeri" Foundation, Institute of Telese Terme; the Department of Neurosciences, Reproductive and Odontostomatological Sciences (F.M., C.P., R.I., L.S.), University Federico II of Naples, Italy; and the Department of Neurology (M.E.S.), University of Iowa, Iowa City
Giuseppe Caporaso - From the Neurology Division (M.N., V.P., A.S., G.C.), "Salvatore Maugeri" Foundation, Institute of Telese Terme; the Department of Neurosciences, Reproductive and Odontostomatological Sciences (F.M., C.P., R.I., L.S.), University Federico II of Naples, Italy; and the Department of Neurology (M.E.S.), University of Iowa, Iowa City
Rosa Iodice - From the Neurology Division (M.N., V.P., A.S., G.C.), "Salvatore Maugeri" Foundation, Institute of Telese Terme; the Department of Neurosciences, Reproductive and Odontostomatological Sciences (F.M., C.P., R.I., L.S.), University Federico II of Naples, Italy; and the Department of Neurology (M.E.S.), University of Iowa, Iowa City
Michael E Shy - From the Neurology Division (M.N., V.P., A.S., G.C.), "Salvatore Maugeri" Foundation, Institute of Telese Terme; the Department of Neurosciences, Reproductive and Odontostomatological Sciences (F.M., C.P., R.I., L.S.), University Federico II of Naples, Italy; and the Department of Neurology (M.E.S.), University of Iowa, Iowa City
Lucio Santoro - From the Neurology Division (M.N., V.P., A.S., G.C.), "Salvatore Maugeri" Foundation, Institute of Telese Terme; the Department of Neurosciences, Reproductive and Odontostomatological Sciences (F.M., C.P., R.I., L.S.), University Federico II of Naples, Italy; and the Department of Neurology (M.E.S.), University of Iowa, Iowa City
Resource Type: Journal article
Publication Details: Neurology, Vol.84(4), pp.407-414
Publisher: United States
DOI: 10.1212/WNL.0000000000001188
PMID: 25540311
PMCID: PMC4336000
ISSN: 0028-3878
eISSN: 1526-632X
Language: English
Date published: 01/27/2015
Academic Unit: Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
Record Identifier: 9984020799002771

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