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Brain Behav. 2019 May;9(5):e01285. doi: 10.1002/brb3.1285. Epub 2019 Apr 13.

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

Author information

1
Department of Educational Psychology, Center for Neurobehavioral Development, University of Minnesota, Minneapolis, MN.
2
Gillette Children's Specialty Healthcare, Research Administration, St. Paul, MN.
3
Department of Neurology, Peripheral Nerve Laboratory, University of Minnesota, Minneapolis, MN.
4
Department of Pediatric Neurology, Gillette Children's Specialty Healthcare, St. Paul, MN.

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.

KEYWORDS:

MECP2; Rett syndrome; epidermal nerve fiber innervation; sensory phenotype

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