A clinical case–control comparison of epidermal innervation density in Rett syndrome
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...
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| creator | 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. |
| description | 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.
Epidermal skin punch biopsy specimens from four adolescent female patients with Rett syndrome (RTT) were compared against an archived approximate age‐, sex‐, body‐site matched comparison sample of healthy adolescent females. Confocal imaging revealed, on average, increased epidermal nerve fiber (ENF) peptidergic (co‐stained calcitonin gene‐related protein) innervation density compared with healthy female control individuals. 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. |
| doi_str_mv | 10.1002/brb3.1285 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6520294</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2209610254</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4435-cde471ce2fb51bb5047e2fadf5452bef20f2af5089a4d2b872401e6d8ab0e7ba3</originalsourceid><addsrcrecordid>eNp1kc9KJDEQxoOsOKIefAFp8LJ7GE2qk_5zWVDxHwwIol5Dkq7ezdCdzCY9LnPzHfYN90nMODqoYF2qKvXj4wsfIfuMHjFK4VgHnR8xqMQG2QZWwDiHsv72bh6RvRinNJVgHDjdIqOc1lXaym3ycJKZzjprVJcZFfH_0z_j3RB8Wn0_U8FG7zLfZjizDYY-YdY5DI9qsOnQoIt2WKS37BaHIYsL1wTf4y7ZbFUXce-175D7i_O7s6vx5Oby-uxkMjac52JsGuQlMwitFkxrQXmZZtW0ggvQ2AJtQbWCVrXiDeiqTPYZFk2lNMVSq3yH_Fzpzua6x8Zgsq46OQu2V2EhvbLy48XZ3_KXf5SFAAo1TwLfXwWC_zPHOMjeRoNdpxz6eZQAtC4YBbFEDz-hUz8PLn0vUUUBRcVfqB8rygQfY8B2bYZRuQxMLgOTy8ASe_De_Zp8iycBxyvgr-1w8bWSPL09zV8knwFBdKH4</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2266268454</pqid></control><display><type>article</type><title>A clinical case–control comparison of epidermal innervation density in Rett syndrome</title><source>MEDLINE</source><source>Wiley Online Library Open Access</source><source>DOAJ Directory of Open Access Journals</source><source>Wiley Online Library Journals Frontfile Complete</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>PubMed Central</source><creator>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.</creator><creatorcontrib>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.</creatorcontrib><description>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.
Epidermal skin punch biopsy specimens from four adolescent female patients with Rett syndrome (RTT) were compared against an archived approximate age‐, sex‐, body‐site matched comparison sample of healthy adolescent females. Confocal imaging revealed, on average, increased epidermal nerve fiber (ENF) peptidergic (co‐stained calcitonin gene‐related protein) innervation density compared with healthy female control individuals. 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.</description><identifier>ISSN: 2162-3279</identifier><identifier>EISSN: 2162-3279</identifier><identifier>DOI: 10.1002/brb3.1285</identifier><identifier>PMID: 30980517</identifier><language>eng</language><publisher>United States: John Wiley & Sons, Inc</publisher><subject>Adolescent ; Biopsy ; Biopsy - methods ; Calcitonin Gene-Related Peptide - metabolism ; Child ; Convulsions & seizures ; Data analysis ; epidermal nerve fiber innervation ; Female ; Females ; Humans ; Immunoglobulins ; MECP2 ; Methyl-CpG-Binding Protein 2 - genetics ; Microscopy, Confocal - methods ; Mutation ; Nervous system ; Neurodevelopmental disorders ; Neurons ; Neurosciences ; Nociception - physiology ; Original Research ; Ostomy ; Patients ; Peripheral Nervous System - pathology ; Peripheral Nervous System - physiopathology ; Phenotype ; Proteins ; Rett syndrome ; Rett Syndrome - diagnosis ; Rett Syndrome - metabolism ; Rett Syndrome - physiopathology ; Scoliosis ; sensory phenotype ; Sensory Receptor Cells - metabolism ; Sensory Receptor Cells - pathology ; Skin - innervation ; Skin - pathology ; Supervision ; Young Adult</subject><ispartof>Brain and behavior, 2019-05, Vol.9 (5), p.e01285-n/a</ispartof><rights>2019 The Authors. published by Wiley Periodicals, Inc.</rights><rights>2019 The Authors. Brain and Behavior published by Wiley Periodicals, Inc.</rights><rights>2019. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4435-cde471ce2fb51bb5047e2fadf5452bef20f2af5089a4d2b872401e6d8ab0e7ba3</citedby><cites>FETCH-LOGICAL-c4435-cde471ce2fb51bb5047e2fadf5452bef20f2af5089a4d2b872401e6d8ab0e7ba3</cites><orcidid>0000-0002-7645-1479</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6520294/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6520294/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,1411,11541,27901,27902,45550,45551,46027,46451,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30980517$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Symons, Frank J.</creatorcontrib><creatorcontrib>Barney, Chantel C.</creatorcontrib><creatorcontrib>Byiers, Breanne J.</creatorcontrib><creatorcontrib>McAdams, Brian D.</creatorcontrib><creatorcontrib>Foster, Shawn X. Y. L.</creatorcontrib><creatorcontrib>Feyma, Timothy J.</creatorcontrib><creatorcontrib>Wendelschafer‐Crabb, Gwen</creatorcontrib><creatorcontrib>Kennedy, William R.</creatorcontrib><title>A clinical case–control comparison of epidermal innervation density in Rett syndrome</title><title>Brain and behavior</title><addtitle>Brain Behav</addtitle><description>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.
Epidermal skin punch biopsy specimens from four adolescent female patients with Rett syndrome (RTT) were compared against an archived approximate age‐, sex‐, body‐site matched comparison sample of healthy adolescent females. Confocal imaging revealed, on average, increased epidermal nerve fiber (ENF) peptidergic (co‐stained calcitonin gene‐related protein) innervation density compared with healthy female control individuals. 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.</description><subject>Adolescent</subject><subject>Biopsy</subject><subject>Biopsy - methods</subject><subject>Calcitonin Gene-Related Peptide - metabolism</subject><subject>Child</subject><subject>Convulsions & seizures</subject><subject>Data analysis</subject><subject>epidermal nerve fiber innervation</subject><subject>Female</subject><subject>Females</subject><subject>Humans</subject><subject>Immunoglobulins</subject><subject>MECP2</subject><subject>Methyl-CpG-Binding Protein 2 - genetics</subject><subject>Microscopy, Confocal - methods</subject><subject>Mutation</subject><subject>Nervous system</subject><subject>Neurodevelopmental disorders</subject><subject>Neurons</subject><subject>Neurosciences</subject><subject>Nociception - physiology</subject><subject>Original Research</subject><subject>Ostomy</subject><subject>Patients</subject><subject>Peripheral Nervous System - pathology</subject><subject>Peripheral Nervous System - physiopathology</subject><subject>Phenotype</subject><subject>Proteins</subject><subject>Rett syndrome</subject><subject>Rett Syndrome - diagnosis</subject><subject>Rett Syndrome - metabolism</subject><subject>Rett Syndrome - physiopathology</subject><subject>Scoliosis</subject><subject>sensory phenotype</subject><subject>Sensory Receptor Cells - metabolism</subject><subject>Sensory Receptor Cells - pathology</subject><subject>Skin - innervation</subject><subject>Skin - pathology</subject><subject>Supervision</subject><subject>Young Adult</subject><issn>2162-3279</issn><issn>2162-3279</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNp1kc9KJDEQxoOsOKIefAFp8LJ7GE2qk_5zWVDxHwwIol5Dkq7ezdCdzCY9LnPzHfYN90nMODqoYF2qKvXj4wsfIfuMHjFK4VgHnR8xqMQG2QZWwDiHsv72bh6RvRinNJVgHDjdIqOc1lXaym3ycJKZzjprVJcZFfH_0z_j3RB8Wn0_U8FG7zLfZjizDYY-YdY5DI9qsOnQoIt2WKS37BaHIYsL1wTf4y7ZbFUXce-175D7i_O7s6vx5Oby-uxkMjac52JsGuQlMwitFkxrQXmZZtW0ggvQ2AJtQbWCVrXiDeiqTPYZFk2lNMVSq3yH_Fzpzua6x8Zgsq46OQu2V2EhvbLy48XZ3_KXf5SFAAo1TwLfXwWC_zPHOMjeRoNdpxz6eZQAtC4YBbFEDz-hUz8PLn0vUUUBRcVfqB8rygQfY8B2bYZRuQxMLgOTy8ASe_De_Zp8iycBxyvgr-1w8bWSPL09zV8knwFBdKH4</recordid><startdate>201905</startdate><enddate>201905</enddate><creator>Symons, Frank J.</creator><creator>Barney, Chantel C.</creator><creator>Byiers, Breanne J.</creator><creator>McAdams, Brian D.</creator><creator>Foster, Shawn X. Y. L.</creator><creator>Feyma, Timothy J.</creator><creator>Wendelschafer‐Crabb, Gwen</creator><creator>Kennedy, William R.</creator><general>John Wiley & Sons, Inc</general><general>John Wiley and Sons Inc</general><scope>24P</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88G</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>K9.</scope><scope>M0S</scope><scope>M2M</scope><scope>M2O</scope><scope>MBDVC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-7645-1479</orcidid></search><sort><creationdate>201905</creationdate><title>A clinical case–control comparison of epidermal innervation density in Rett syndrome</title><author>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.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4435-cde471ce2fb51bb5047e2fadf5452bef20f2af5089a4d2b872401e6d8ab0e7ba3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Adolescent</topic><topic>Biopsy</topic><topic>Biopsy - methods</topic><topic>Calcitonin Gene-Related Peptide - metabolism</topic><topic>Child</topic><topic>Convulsions & seizures</topic><topic>Data analysis</topic><topic>epidermal nerve fiber innervation</topic><topic>Female</topic><topic>Females</topic><topic>Humans</topic><topic>Immunoglobulins</topic><topic>MECP2</topic><topic>Methyl-CpG-Binding Protein 2 - genetics</topic><topic>Microscopy, Confocal - methods</topic><topic>Mutation</topic><topic>Nervous system</topic><topic>Neurodevelopmental disorders</topic><topic>Neurons</topic><topic>Neurosciences</topic><topic>Nociception - physiology</topic><topic>Original Research</topic><topic>Ostomy</topic><topic>Patients</topic><topic>Peripheral Nervous System - pathology</topic><topic>Peripheral Nervous System - physiopathology</topic><topic>Phenotype</topic><topic>Proteins</topic><topic>Rett syndrome</topic><topic>Rett Syndrome - diagnosis</topic><topic>Rett Syndrome - metabolism</topic><topic>Rett Syndrome - physiopathology</topic><topic>Scoliosis</topic><topic>sensory phenotype</topic><topic>Sensory Receptor Cells - metabolism</topic><topic>Sensory Receptor Cells - pathology</topic><topic>Skin - innervation</topic><topic>Skin - pathology</topic><topic>Supervision</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Symons, Frank J.</creatorcontrib><creatorcontrib>Barney, Chantel C.</creatorcontrib><creatorcontrib>Byiers, Breanne J.</creatorcontrib><creatorcontrib>McAdams, Brian D.</creatorcontrib><creatorcontrib>Foster, Shawn X. Y. L.</creatorcontrib><creatorcontrib>Feyma, Timothy J.</creatorcontrib><creatorcontrib>Wendelschafer‐Crabb, Gwen</creatorcontrib><creatorcontrib>Kennedy, William R.</creatorcontrib><collection>Wiley Online Library Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Psychology Database (Alumni)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>ProQuest Psychology</collection><collection>Research Library</collection><collection>Research Library (Corporate)</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Brain and behavior</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Symons, Frank J.</au><au>Barney, Chantel C.</au><au>Byiers, Breanne J.</au><au>McAdams, Brian D.</au><au>Foster, Shawn X. Y. L.</au><au>Feyma, Timothy J.</au><au>Wendelschafer‐Crabb, Gwen</au><au>Kennedy, William R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A clinical case–control comparison of epidermal innervation density in Rett syndrome</atitle><jtitle>Brain and behavior</jtitle><addtitle>Brain Behav</addtitle><date>2019-05</date><risdate>2019</risdate><volume>9</volume><issue>5</issue><spage>e01285</spage><epage>n/a</epage><pages>e01285-n/a</pages><issn>2162-3279</issn><eissn>2162-3279</eissn><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.
Epidermal skin punch biopsy specimens from four adolescent female patients with Rett syndrome (RTT) were compared against an archived approximate age‐, sex‐, body‐site matched comparison sample of healthy adolescent females. Confocal imaging revealed, on average, increased epidermal nerve fiber (ENF) peptidergic (co‐stained calcitonin gene‐related protein) innervation density compared with healthy female control individuals. 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.</abstract><cop>United States</cop><pub>John Wiley & Sons, Inc</pub><pmid>30980517</pmid><doi>10.1002/brb3.1285</doi><tpages>6</tpages><orcidid>https://orcid.org/0000-0002-7645-1479</orcidid><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Wiley Online Library Open Access; DOAJ Directory of Open Access Journals; Wiley Online Library Journals Frontfile Complete; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central |
| subjects | Adolescent Biopsy Biopsy - methods Calcitonin Gene-Related Peptide - metabolism Child Convulsions & seizures Data analysis epidermal nerve fiber innervation Female Females Humans Immunoglobulins MECP2 Methyl-CpG-Binding Protein 2 - genetics Microscopy, Confocal - methods Mutation Nervous system Neurodevelopmental disorders Neurons Neurosciences Nociception - physiology Original Research Ostomy Patients Peripheral Nervous System - pathology Peripheral Nervous System - physiopathology Phenotype Proteins Rett syndrome Rett Syndrome - diagnosis Rett Syndrome - metabolism Rett Syndrome - physiopathology Scoliosis sensory phenotype Sensory Receptor Cells - metabolism Sensory Receptor Cells - pathology Skin - innervation Skin - pathology Supervision Young Adult |
| title | A clinical case–control comparison of epidermal innervation density in Rett syndrome |
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