This article is dedicated to Prof. Giuseppe Caruso.
Small fibers involvement in Friedreich's ataxia†
Article first published online: 15 NOV 2001
Copyright © 2001 Wiley-Liss, Inc.
Annals of Neurology
Volume 50, Issue 1, pages 17–25, July 2001
How to Cite
Nolano, M., Provitera, V., Crisci, C., Saltalamacchia, A. M., Wendelschafer-Crabb, G., Kennedy, W. R., Filla, A., Santoro, L. and Caruso, G. (2001), Small fibers involvement in Friedreich's ataxia. Ann Neurol., 50: 17–25. doi: 10.1002/ana.1283
- Issue published online: 15 NOV 2001
- Article first published online: 15 NOV 2001
- Manuscript Revised: 25 JAN 2001
- Manuscript Accepted: 25 JAN 2001
- Manuscript Received: 26 JUN 2000
- MURST project “Neuropatie ereditarie: Identificazione di nuovi geni e patologia molecolare”
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.