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Small fibers involvement in Friedreich's ataxia
Author(s) -
Nolano Maria,
Provitera Vincenzo,
Crisci Claudio,
Saltalamacchia Anna Maria,
WendelschaferCrabb Gwen,
Kennedy William Robert,
Filla Alessandro,
Santoro Lucio,
Caruso Giuseppe
Publication year - 2001
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.1283
Subject(s) - anatomy , thigh , medicine , ataxia , dorsum , sensory system , population , pathology , biology , neuroscience , environmental health , psychiatry
Although the involvement of large myelinated sensory fibers in Friedreich's ataxia (FA) is well documented, an impairment of unmyelinated fibers has not been described. We demonstrate an involvement of cutaneous unmyelinated sensory and autonomic nerve fibers in FA patients. We performed a morphological and functional study of cutaneous nerve fibers in 14 FA patients and in a population of control subjects. We used immunohistochemical techniques and confocal microscopy applied to punch skin biopsies from thigh, distal leg, and fingertip, and compared the density of epidermal nerve fibers (ENFs) with the results of mechanical pain sensation and thermal and tactile thresholds performed on hand dorsum, thigh, distal leg, and foot dorsum. We observed in our patients a statistically significant loss of ENFs, a reduced innervation of sweat glands, arrector pilorum muscles and arterioles, and an impairment of thermal and tactile thresholds and mechanical pain detection.