A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability

Myoclonus-dystonia associated with epsilon-sarcoglycan gene ( SGCE) is a rare disorder characterized by myoclonus involving the upper body (neck, trunk, upper limbs) and proximal muscles associated with dystonia in more than half of the patients. When the clinical picture is clearly identified, more...

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Veröffentlicht in:	Neurological sciences 2020-12, Vol.41 (12), p.3779-3781
Hauptverfasser:	Delgado-Alvarado, Manuel, Matilla-Dueñas, Antoni, Altadill-Bermejo, Antonio, Setién, Sonia, Misiego-Peral, Mercedes, Sánchez-de la Torre, José Ramón, Corral-Juan, Marc, Riancho, Javier
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Sprache:	eng
Schlagworte:	Biological Variation, Population Brief Communication Dystonia Dystonic Disorders - genetics Genetic variability Humans Medicine Medicine & Public Health Muscles Mutation Mutation - genetics Myoclonus Myoclonus - complications Myoclonus - genetics Neurology Neuroradiology Neurosciences Neurosurgery Phenotypes Posture Psychiatry Sarcoglycans - genetics
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container_issue	12
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container_title	Neurological sciences
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creator	Delgado-Alvarado, Manuel Matilla-Dueñas, Antoni Altadill-Bermejo, Antonio Setién, Sonia Misiego-Peral, Mercedes Sánchez-de la Torre, José Ramón Corral-Juan, Marc Riancho, Javier
description	Myoclonus-dystonia associated with epsilon-sarcoglycan gene ( SGCE) is a rare disorder characterized by myoclonus involving the upper body (neck, trunk, upper limbs) and proximal muscles associated with dystonia in more than half of the patients. When the clinical picture is clearly identified, more than half of the cases are associated with mutations in the SGCE gene. We herein describe a family with myoclonus-dystonia associated with a novel mutation in exon 7 of SGCE , c.904A>T (p.Lys302Ter) [Chr7:(GRCh38):g.94600779 T>A], which was absent in a non-affected member. A video recording of two of the affected members is provided. While the index case presents a severe cervical dystonia even affecting back posture, his sibling shows a much milder phenotype with mild myoclonic jerks. None of them had alcohol responsiveness or psychiatric comorbidity.
doi_str_mv	10.1007/s10072-020-04718-6
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None of them had alcohol responsiveness or psychiatric comorbidity.</description><subject>Biological Variation, Population</subject><subject>Brief Communication</subject><subject>Dystonia</subject><subject>Dystonic Disorders - genetics</subject><subject>Genetic variability</subject><subject>Humans</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Muscles</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>Myoclonus</subject><subject>Myoclonus - complications</subject><subject>Myoclonus - genetics</subject><subject>Neurology</subject><subject>Neuroradiology</subject><subject>Neurosciences</subject><subject>Neurosurgery</subject><subject>Phenotypes</subject><subject>Posture</subject><subject>Psychiatry</subject><subject>Sarcoglycans - genetics</subject><issn>1590-1874</issn><issn>1590-3478</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp9kE9PwyAYh4nROJ1-AQ-miRcv1RdKS3tcljlNlnjwz5VAC46lLRPamX57Wzs18eAFCDy_30sehC4w3GAAduuHlYRAIATKcBomB-gExxmEEWXp4f6MU0Yn6NT7DQBgiqNjNIlIFsdJlJ2g11lQ250qg6flfBHshDOibgLjA-G9zY1oVBF8mGYdVJ3NS1u3Piw639jaiPF-u1a1bbqtyce0NKVpujN0pEXp1fl-n6KXu8Xz_D5cPS4f5rNVmJMMkpASHDMgmqVSaZ0S0EpISrWGjMSxwAxrIYhI0kgmkqQ5lhlNBQaZM1oILKIpuh57t86-t8o3vDI-V2UpamVbzwmlNAGKWdKjV3_QjW1d3f-upxiOCYuzgSIjlTvrvVOab52phOs4Bj745qN13lvnX9b5ELrcV7eyUsVP5FtzD0Qj4Pun-k2539n_1H4CNiaMzQ</recordid><startdate>20201201</startdate><enddate>20201201</enddate><creator>Delgado-Alvarado, Manuel</creator><creator>Matilla-Dueñas, Antoni</creator><creator>Altadill-Bermejo, Antonio</creator><creator>Setién, Sonia</creator><creator>Misiego-Peral, Mercedes</creator><creator>Sánchez-de la Torre, José Ramón</creator><creator>Corral-Juan, Marc</creator><creator>Riancho, Javier</creator><general>Springer International Publishing</general><general>Springer Nature B.V</general><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>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88G</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</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>K9-</scope><scope>K9.</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-1563-0315</orcidid></search><sort><creationdate>20201201</creationdate><title>A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability</title><author>Delgado-Alvarado, Manuel ; Matilla-Dueñas, Antoni ; Altadill-Bermejo, Antonio ; Setién, Sonia ; Misiego-Peral, Mercedes ; Sánchez-de la Torre, José Ramón ; Corral-Juan, Marc ; Riancho, Javier</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2906-4215702f78beff820feab44ff09255a171faa2a683b6b28c1b948a10bc74da1a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Biological Variation, Population</topic><topic>Brief Communication</topic><topic>Dystonia</topic><topic>Dystonic Disorders - genetics</topic><topic>Genetic variability</topic><topic>Humans</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Muscles</topic><topic>Mutation</topic><topic>Mutation - genetics</topic><topic>Myoclonus</topic><topic>Myoclonus - complications</topic><topic>Myoclonus - genetics</topic><topic>Neurology</topic><topic>Neuroradiology</topic><topic>Neurosciences</topic><topic>Neurosurgery</topic><topic>Phenotypes</topic><topic>Posture</topic><topic>Psychiatry</topic><topic>Sarcoglycans - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Delgado-Alvarado, Manuel</creatorcontrib><creatorcontrib>Matilla-Dueñas, Antoni</creatorcontrib><creatorcontrib>Altadill-Bermejo, Antonio</creatorcontrib><creatorcontrib>Setién, Sonia</creatorcontrib><creatorcontrib>Misiego-Peral, Mercedes</creatorcontrib><creatorcontrib>Sánchez-de la Torre, José Ramón</creatorcontrib><creatorcontrib>Corral-Juan, Marc</creatorcontrib><creatorcontrib>Riancho, Javier</creatorcontrib><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>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</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>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Psychology 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 One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>Neurological sciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Delgado-Alvarado, Manuel</au><au>Matilla-Dueñas, Antoni</au><au>Altadill-Bermejo, Antonio</au><au>Setién, Sonia</au><au>Misiego-Peral, Mercedes</au><au>Sánchez-de la Torre, José Ramón</au><au>Corral-Juan, Marc</au><au>Riancho, Javier</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability</atitle><jtitle>Neurological sciences</jtitle><stitle>Neurol Sci</stitle><addtitle>Neurol Sci</addtitle><date>2020-12-01</date><risdate>2020</risdate><volume>41</volume><issue>12</issue><spage>3779</spage><epage>3781</epage><pages>3779-3781</pages><issn>1590-1874</issn><eissn>1590-3478</eissn><abstract>Myoclonus-dystonia associated with epsilon-sarcoglycan gene ( SGCE) is a rare disorder characterized by myoclonus involving the upper body (neck, trunk, upper limbs) and proximal muscles associated with dystonia in more than half of the patients. When the clinical picture is clearly identified, more than half of the cases are associated with mutations in the SGCE gene. We herein describe a family with myoclonus-dystonia associated with a novel mutation in exon 7 of SGCE , c.904A>T (p.Lys302Ter) [Chr7:(GRCh38):g.94600779 T>A], which was absent in a non-affected member. A video recording of two of the affected members is provided. While the index case presents a severe cervical dystonia even affecting back posture, his sibling shows a much milder phenotype with mild myoclonic jerks. None of them had alcohol responsiveness or psychiatric comorbidity.</abstract><cop>Cham</cop><pub>Springer International Publishing</pub><pmid>32955639</pmid><doi>10.1007/s10072-020-04718-6</doi><tpages>3</tpages><orcidid>https://orcid.org/0000-0003-1563-0315</orcidid></addata></record>
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subjects	Biological Variation, Population Brief Communication Dystonia Dystonic Disorders - genetics Genetic variability Humans Medicine Medicine & Public Health Muscles Mutation Mutation - genetics Myoclonus Myoclonus - complications Myoclonus - genetics Neurology Neuroradiology Neurosciences Neurosurgery Phenotypes Posture Psychiatry Sarcoglycans - genetics
title	A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability
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