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- Title
A clinical case–control comparison of epidermal innervation density in Rett syndrome.
- Authors
Symons, Frank J.; Barney, Chantel C.; Byiers, Breanne J.; McAdams, Brian D.; Foster, Shawn X. Y. L.; Feyma, Timothy J.; Wendelschafer‐Crabb, Gwen; Kennedy, William R.
- 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.
- Subjects
RETT syndrome; INNERVATION; NERVE fibers; CHILDBIRTH; DENSITY
- Publication
Brain & Behavior, 2019, Vol 9, Issue 5, pN.PAG
- ISSN
2162-3279
- Publication type
Article
- DOI
10.1002/brb3.1285