Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum
Abstract Background Complex I deficiency is the most common energy generation disorder which may clinically present at any age with a wide spectrum of symptoms and signs. The T10158C mutation ND3 gene is rare and occurs in patients showing an early rapid neurological deterioration invariably leading...
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| Veröffentlicht in: | Brain & development (Tokyo. 1979) 2017-03, Vol.39 (3), p.261-265 |
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| container_title | Brain & development (Tokyo. 1979) |
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| creator | Grosso, Salvatore Carluccio, Maria Alessandra Cardaioli, Elena Cerase, Alfonso Malandrini, Alessandro Romano, Chiara Federico, Antonio Dotti, Maria Teresa |
| description | Abstract Background Complex I deficiency is the most common energy generation disorder which may clinically present at any age with a wide spectrum of symptoms and signs. The T10158C mutation ND3 gene is rare and occurs in patients showing an early rapid neurological deterioration invariably leading to death after a few months. Case presentation We report a 9 year-old boy with a mtDNA T10158C mutation showing a mild MELAS-like phenotype and brain MRI features congruent with both MELAS and Leigh syndrome. Epilepsia partialis continua also occurred in the clinical course and related to a mild cortical atrophy of the left perisylvian area. Discussion The present case confirms that the clinical spectrum of Complex I deficiency related to T10158C mutation ND3 gene is wider than previously described. Our observation further suggests that testing mutation in the MT-ND3 gene should be included in the diagnostic work-up of patients presenting with epilepsia partialis continua accompanied by suspicion of mitochondrial disorder. |
| doi_str_mv | 10.1016/j.braindev.2016.09.013 |
| format | Article |
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The T10158C mutation ND3 gene is rare and occurs in patients showing an early rapid neurological deterioration invariably leading to death after a few months. Case presentation We report a 9 year-old boy with a mtDNA T10158C mutation showing a mild MELAS-like phenotype and brain MRI features congruent with both MELAS and Leigh syndrome. Epilepsia partialis continua also occurred in the clinical course and related to a mild cortical atrophy of the left perisylvian area. Discussion The present case confirms that the clinical spectrum of Complex I deficiency related to T10158C mutation ND3 gene is wider than previously described. Our observation further suggests that testing mutation in the MT-ND3 gene should be included in the diagnostic work-up of patients presenting with epilepsia partialis continua accompanied by suspicion of mitochondrial disorder.</description><identifier>ISSN: 0387-7604</identifier><identifier>EISSN: 1872-7131</identifier><identifier>DOI: 10.1016/j.braindev.2016.09.013</identifier><identifier>PMID: 27742419</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>Child ; DNA, Mitochondrial - genetics ; Electron Transport Complex I - deficiency ; Electron Transport Complex I - genetics ; Electron Transport Complex I - metabolism ; Epilepsia partialis continua ; Humans ; Leigh Disease - complications ; Leigh Disease - diagnosis ; Leigh Disease - genetics ; Leigh syndrome ; Magnetic Resonance Imaging - methods ; Male ; MELAS ; MELAS Syndrome - complications ; MELAS Syndrome - diagnosis ; MELAS Syndrome - genetics ; Mitochondrial disorder ; Mutation - genetics ; Neurology</subject><ispartof>Brain & development (Tokyo. 1979), 2017-03, Vol.39 (3), p.261-265</ispartof><rights>2016 The Japanese Society of Child Neurology</rights><rights>Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c513t-dde0a4d2153758521bdff9eaaf81700806fd81d916af15c4364e94e1259cd4113</citedby><cites>FETCH-LOGICAL-c513t-dde0a4d2153758521bdff9eaaf81700806fd81d916af15c4364e94e1259cd4113</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S038776041630167X$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65534</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27742419$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Grosso, Salvatore</creatorcontrib><creatorcontrib>Carluccio, Maria Alessandra</creatorcontrib><creatorcontrib>Cardaioli, Elena</creatorcontrib><creatorcontrib>Cerase, Alfonso</creatorcontrib><creatorcontrib>Malandrini, Alessandro</creatorcontrib><creatorcontrib>Romano, Chiara</creatorcontrib><creatorcontrib>Federico, Antonio</creatorcontrib><creatorcontrib>Dotti, Maria Teresa</creatorcontrib><title>Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum</title><title>Brain & development (Tokyo. 1979)</title><addtitle>Brain Dev</addtitle><description>Abstract Background Complex I deficiency is the most common energy generation disorder which may clinically present at any age with a wide spectrum of symptoms and signs. The T10158C mutation ND3 gene is rare and occurs in patients showing an early rapid neurological deterioration invariably leading to death after a few months. Case presentation We report a 9 year-old boy with a mtDNA T10158C mutation showing a mild MELAS-like phenotype and brain MRI features congruent with both MELAS and Leigh syndrome. Epilepsia partialis continua also occurred in the clinical course and related to a mild cortical atrophy of the left perisylvian area. Discussion The present case confirms that the clinical spectrum of Complex I deficiency related to T10158C mutation ND3 gene is wider than previously described. Our observation further suggests that testing mutation in the MT-ND3 gene should be included in the diagnostic work-up of patients presenting with epilepsia partialis continua accompanied by suspicion of mitochondrial disorder.</description><subject>Child</subject><subject>DNA, Mitochondrial - genetics</subject><subject>Electron Transport Complex I - deficiency</subject><subject>Electron Transport Complex I - genetics</subject><subject>Electron Transport Complex I - metabolism</subject><subject>Epilepsia partialis continua</subject><subject>Humans</subject><subject>Leigh Disease - complications</subject><subject>Leigh Disease - diagnosis</subject><subject>Leigh Disease - genetics</subject><subject>Leigh syndrome</subject><subject>Magnetic Resonance Imaging - methods</subject><subject>Male</subject><subject>MELAS</subject><subject>MELAS Syndrome - complications</subject><subject>MELAS Syndrome - diagnosis</subject><subject>MELAS Syndrome - genetics</subject><subject>Mitochondrial disorder</subject><subject>Mutation - genetics</subject><subject>Neurology</subject><issn>0387-7604</issn><issn>1872-7131</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU1v1DAQhi0EotvCX6h85JLgiZ044YCoFiiVKjhQJG6W1x5TL0m82EnF_nuc3S4HLpwsj98P-RlCLoGVwKB5vS03UfvR4kNZ5XvJupIBf0JW0MqqkMDhKVkx3spCNkyckfOUtowxqIA9J2eVlKIS0K3I_ToMux5_0xtq0XnjcTR7GrHXE1o6BXqX6-p2TYd50pMPI_38ntMfOOIbekXdHKd7jAfr6A_PwdE8oqbPA6N7mnZopjgPL8gzp_uELx_PC_Lt44e79afi9sv1zfrqtjA18KmwFpkWtoKay7qtK9hY5zrU2rUgGWtZ42wLtoNGO6iN4I3ATiBUdWesAOAX5NUxdxfDrxnTpAafDPa9HjHMSUHLawFStIu0OUpNDClFdGoX_aDjXgFTC2W1VSfKaqGsWKcy5Wy8fOyYNwPav7YT1ix4dxRg_umDx6jSgSxaHzMOZYP_f8fbfyJOSH_iHtM2zHHMHBWoVCmmvi67XlYNDc8p8jv_A3LVpQc</recordid><startdate>20170301</startdate><enddate>20170301</enddate><creator>Grosso, Salvatore</creator><creator>Carluccio, Maria Alessandra</creator><creator>Cardaioli, Elena</creator><creator>Cerase, Alfonso</creator><creator>Malandrini, Alessandro</creator><creator>Romano, Chiara</creator><creator>Federico, Antonio</creator><creator>Dotti, Maria Teresa</creator><general>Elsevier 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>7X8</scope></search><sort><creationdate>20170301</creationdate><title>Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum</title><author>Grosso, Salvatore ; Carluccio, Maria Alessandra ; Cardaioli, Elena ; Cerase, Alfonso ; Malandrini, Alessandro ; Romano, Chiara ; Federico, Antonio ; Dotti, Maria Teresa</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c513t-dde0a4d2153758521bdff9eaaf81700806fd81d916af15c4364e94e1259cd4113</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Child</topic><topic>DNA, Mitochondrial - genetics</topic><topic>Electron Transport Complex I - deficiency</topic><topic>Electron Transport Complex I - genetics</topic><topic>Electron Transport Complex I - metabolism</topic><topic>Epilepsia partialis continua</topic><topic>Humans</topic><topic>Leigh Disease - complications</topic><topic>Leigh Disease - diagnosis</topic><topic>Leigh Disease - genetics</topic><topic>Leigh syndrome</topic><topic>Magnetic Resonance Imaging - methods</topic><topic>Male</topic><topic>MELAS</topic><topic>MELAS Syndrome - complications</topic><topic>MELAS Syndrome - diagnosis</topic><topic>MELAS Syndrome - genetics</topic><topic>Mitochondrial disorder</topic><topic>Mutation - genetics</topic><topic>Neurology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Grosso, Salvatore</creatorcontrib><creatorcontrib>Carluccio, Maria Alessandra</creatorcontrib><creatorcontrib>Cardaioli, Elena</creatorcontrib><creatorcontrib>Cerase, Alfonso</creatorcontrib><creatorcontrib>Malandrini, Alessandro</creatorcontrib><creatorcontrib>Romano, Chiara</creatorcontrib><creatorcontrib>Federico, Antonio</creatorcontrib><creatorcontrib>Dotti, Maria Teresa</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Brain & development (Tokyo. 1979)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Grosso, Salvatore</au><au>Carluccio, Maria Alessandra</au><au>Cardaioli, Elena</au><au>Cerase, Alfonso</au><au>Malandrini, Alessandro</au><au>Romano, Chiara</au><au>Federico, Antonio</au><au>Dotti, Maria Teresa</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum</atitle><jtitle>Brain & development (Tokyo. 1979)</jtitle><addtitle>Brain Dev</addtitle><date>2017-03-01</date><risdate>2017</risdate><volume>39</volume><issue>3</issue><spage>261</spage><epage>265</epage><pages>261-265</pages><issn>0387-7604</issn><eissn>1872-7131</eissn><abstract>Abstract Background Complex I deficiency is the most common energy generation disorder which may clinically present at any age with a wide spectrum of symptoms and signs. The T10158C mutation ND3 gene is rare and occurs in patients showing an early rapid neurological deterioration invariably leading to death after a few months. Case presentation We report a 9 year-old boy with a mtDNA T10158C mutation showing a mild MELAS-like phenotype and brain MRI features congruent with both MELAS and Leigh syndrome. Epilepsia partialis continua also occurred in the clinical course and related to a mild cortical atrophy of the left perisylvian area. Discussion The present case confirms that the clinical spectrum of Complex I deficiency related to T10158C mutation ND3 gene is wider than previously described. Our observation further suggests that testing mutation in the MT-ND3 gene should be included in the diagnostic work-up of patients presenting with epilepsia partialis continua accompanied by suspicion of mitochondrial disorder.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>27742419</pmid><doi>10.1016/j.braindev.2016.09.013</doi><tpages>5</tpages></addata></record> |
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| subjects | Child DNA, Mitochondrial - genetics Electron Transport Complex I - deficiency Electron Transport Complex I - genetics Electron Transport Complex I - metabolism Epilepsia partialis continua Humans Leigh Disease - complications Leigh Disease - diagnosis Leigh Disease - genetics Leigh syndrome Magnetic Resonance Imaging - methods Male MELAS MELAS Syndrome - complications MELAS Syndrome - diagnosis MELAS Syndrome - genetics Mitochondrial disorder Mutation - genetics Neurology |
| title | Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum |
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