A clinical case-control comparison of epidermal innervation density in Rett syndrome.

Autor: Symons FJ; Department of Educational Psychology, Center for Neurobehavioral Development, University of Minnesota, Minneapolis, MN., Barney CC; Gillette Children's Specialty Healthcare, Research Administration, St. Paul, MN., Byiers BJ; Department of Educational Psychology, Center for Neurobehavioral Development, University of Minnesota, Minneapolis, MN., McAdams BD; Department of Neurology, Peripheral Nerve Laboratory, University of Minnesota, Minneapolis, MN., Foster SXYL; Department of Neurology, Peripheral Nerve Laboratory, University of Minnesota, Minneapolis, MN., Feyma TJ; Department of Pediatric Neurology, Gillette Children's Specialty Healthcare, St. Paul, MN., Wendelschafer-Crabb G; Department of Neurology, Peripheral Nerve Laboratory, University of Minnesota, Minneapolis, MN., Kennedy WR; Department of Neurology, Peripheral Nerve Laboratory, University of Minnesota, Minneapolis, MN.
Jazyk: angličtina
Zdroj: Brain and behavior [Brain Behav] 2019 May; Vol. 9 (5), pp. e01285. Date of Electronic Publication: 2019 Apr 13.
DOI: 10.1002/brb3.1285
Abstrakt: Introduction: Rett syndrome (RTT), a rare neurodevelopmental disorder occurring primarily in females (1:10-15,000 female live births), is most often caused by loss-of-function mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). Clinical observations and preclinical findings indicate apparent abnormal sensory and nociceptive function. There have been no direct investigations of epidermal sensory innervation in patients with RTT.
Methods: We compared 3 mm epidermal punch biopsy specimens from adolescent female RTT patients (N = 4, aged 12-19 years) against an archived approximate age-, sex-, body-site matched comparison sample of healthy adolescent females (N = 8, ages 11-17).
Results: Confocal imaging revealed, on average, statistically significant increased epidermal nerve fiber (ENF) peptidergic (co-stained calcitonin gene-related protein [CGRP]) innervation density compared with healthy female control individuals.
Conclusions: Given the clinical phenotype of disrupted sensory function along with diagnostic criteria specific to cold hands/feet and insensitivity to pain, our preliminary observations of ENF peptidergic fiber density differences warrants further investigation of the peripheral neurobiology in RTT.
(© 2019 The Authors. Brain and Behavior published by Wiley Periodicals, Inc.)
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje