{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T16:59:35Z","timestamp":1759683575665,"version":"3.41.2"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,4,13]],"date-time":"2019-04-13T00:00:00Z","timestamp":1555113600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["44763"],"award-info":[{"award-number":["44763"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001744","name":"Mayday Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001744","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Brain and Behavior"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Rett syndrome (RTT), a rare neurodevelopmental disorder occurring primarily in females (1:10\u201315,000 female live births), is most often caused by loss\u2010of\u2010function mutations in the X\u2010linked methyl\u2010CpG\u2010binding protein 2 gene (<jats:italic>MECP2<\/jats:italic>). 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We compared 3\u00a0mm epidermal punch biopsy specimens from adolescent female RTT patients (<jats:italic>N<\/jats:italic>\u00a0=\u00a04, aged 12\u201319\u00a0years) against an archived approximate age\u2010, sex\u2010, body\u2010site matched comparison sample of healthy adolescent females (<jats:italic>N<\/jats:italic>\u00a0=\u00a08, ages 11\u201317).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Confocal imaging revealed, on average, statistically significant increased epidermal nerve fiber (ENF) peptidergic (co\u2010stained calcitonin gene\u2010related protein [CGRP]) innervation density compared with healthy female control individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec>","DOI":"10.1002\/brb3.1285","type":"journal-article","created":{"date-parts":[[2019,4,13]],"date-time":"2019-04-13T08:41:01Z","timestamp":1555144861000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A clinical case\u2013control comparison of epidermal innervation density in Rett syndrome"],"prefix":"10.1002","volume":"9","author":[{"given":"Frank J.","family":"Symons","sequence":"first","affiliation":[{"name":"Department of Educational Psychology, Center for Neurobehavioral Development University of Minnesota Minneapolis MN"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chantel C.","family":"Barney","sequence":"additional","affiliation":[{"name":"Gillette Children's Specialty Healthcare Research Administration St. Paul MN"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7645-1479","authenticated-orcid":false,"given":"Breanne J.","family":"Byiers","sequence":"additional","affiliation":[{"name":"Department of Educational Psychology, Center for Neurobehavioral Development University of Minnesota Minneapolis MN"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brian D.","family":"McAdams","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peripheral Nerve Laboratory University of Minnesota Minneapolis MN"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shawn X. Y. L.","family":"Foster","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peripheral Nerve Laboratory University of Minnesota Minneapolis MN"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy J.","family":"Feyma","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Gillette Children's Specialty Healthcare St. Paul MN"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gwen","family":"Wendelschafer\u2010Crabb","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peripheral Nerve Laboratory University of Minnesota Minneapolis MN"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William R.","family":"Kennedy","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peripheral Nerve Laboratory University of Minnesota Minneapolis MN"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,4,13]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10882-015-9427-3"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1618210114"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms7920"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcn.2014.01.005"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mrdd.10020"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00688098"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2202-11-19"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(93)90223-L"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2016.05.033"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-017-0174-4"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0064863"},{"key":"e_1_2_8_14_1","first-page":"300","article-title":"Rett syndrome: Initial experience with an emerging clinical entity","volume":"7","author":"Percy A. 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