Small nerve fiber involvement in CMT1A.

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 age- and sex-matched controls was included with a matching ratio of 1:2.

Results

We found a length-dependent loss of EN

SUBMITTER: Nolano M 

PROVIDER: S-EPMC4336000 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature