A Clinical Case-control Comparison of Epidermal Innervation Density in Rett Syndrome

Overview

Journal Brain Behav

Specialty Psychology

Date 2019 Apr 14

PMID 30980517

Citations 7

Authors

Frank J Symons

Chantel C Barney

Breanne J Byiers

Brian D McAdams

Shawn X Y L Foster

Timothy J Feyma

Gwen Wendelschafer-Crabb

William R Kennedy

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

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Wild-type MECP2 expression coincides with age-dependent sensory phenotypes in a female mouse model for Rett syndrome.

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Flores Gutierrez J, De Felice C, Natali G, Leoncini S, Signorini C, Hayek J J Neurodev Disord. 2020; 12(1):26.

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