A clinical case-control comparison of epidermal innervation density in Rett syndrome.
A clinical case-control comparison of epidermal innervation density in Rett syndrome.
复制标题
雷特综合征表皮神经支配密度的临床病例对照比较。
DOI：
10.1002/brb3.1285
复制
发表时间：
2019
影响因子：
3.1
通讯作者：
Kennedy,WilliamR
中科院分区：
文献类型：
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作者：
Symons,FrankJ;Barney,ChantelC;Byiers,BreanneJ;McAdams,BrianD;Foster,ShawnXYL;Feyma,TimothyJ;Wendelschafer-Crabb,Gwen;Kennedy,WilliamR
IntroductionRett 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.MethodsWe 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).ResultsConfocal 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.ConclusionsGiven 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.
