Movement disorders in adult surviving patients with maple syrup urine disease
Identifieur interne : 002057 ( Istex/Corpus ); précédent : 002056; suivant : 002058Movement disorders in adult surviving patients with maple syrup urine disease
Auteurs : Miryam Carecchio ; Susanne A. Schneider ; Heidi Chan ; Robin Lachmann ; Philip J. Lee ; Elaine Murphy ; Kailash P. BhatiaSource :
- Movement Disorders [ 0885-3185 ] ; 2011-06.
English descriptors
Abstract
Maple syrup urine disease is a rare metabolic disorder caused by mutations in the branched‐chain α‐keto acid dehydrogenase complex gene. Patients generally present early in life with a toxic encephalopathy because of the accumulation of the branched‐chain amino acids leucine, isoleucine, and valine and the corresponding ketoacids. Movement disorders in maple syrup urine disease have typically been described during decompensation episodes or at presentation in the context of a toxic encephalopathy, with complete resolution after appropriate dietary treatment. Movement disorders in patients surviving childhood are not well documented. We assessed 17 adult patients with maple syrup urine disease (mean age, 27.5 years) with a special focus on movement disorders. Twelve (70.6%) had a movement disorder on clinical examination, mainly tremor and dystonia or a combination of both. Parkinsonism and simple motor tics were also observed. Pyramidal signs were present in 11 patients (64.7%), and a spastic‐dystonic gait was observed in 6 patients (35.2%). In summary, movement disorders are common in treated adult patients with maple syrup urine disease, and careful neurological examination is advisable to identify those who may benefit from specific therapy. © 2011 Movement Disorder Society
Url:
DOI: 10.1002/mds.23629
Links to Exploration step
ISTEX:1F8B1FDBE92F2EC85C69987B44E201D78C82A6C6Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Movement disorders in adult surviving patients with maple syrup urine disease</title><author><name sortKey="Carecchio, Miryam" sort="Carecchio, Miryam" uniqKey="Carecchio M" first="Miryam" last="Carecchio">Miryam Carecchio</name><affiliation><mods:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Amedeo Avogadro University, Novara, Italy</mods:affiliation></affiliation></author><author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name><affiliation><mods:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom</mods:affiliation></affiliation><affiliation><mods:affiliation>Schilling Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Luebeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Chan, Heidi" sort="Chan, Heidi" uniqKey="Chan H" first="Heidi" last="Chan">Heidi Chan</name><affiliation><mods:affiliation>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Lachmann, Robin" sort="Lachmann, Robin" uniqKey="Lachmann R" first="Robin" last="Lachmann">Robin Lachmann</name><affiliation><mods:affiliation>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Lee, Philip J" sort="Lee, Philip J" uniqKey="Lee P" first="Philip J." last="Lee">Philip J. Lee</name><affiliation><mods:affiliation>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Murphy, Elaine" sort="Murphy, Elaine" uniqKey="Murphy E" first="Elaine" last="Murphy">Elaine Murphy</name><affiliation><mods:affiliation>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><affiliation><mods:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:1F8B1FDBE92F2EC85C69987B44E201D78C82A6C6</idno><date when="2011" year="2011">2011</date><idno type="doi">10.1002/mds.23629</idno><idno type="url">https://api.istex.fr/document/1F8B1FDBE92F2EC85C69987B44E201D78C82A6C6/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002057</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Movement disorders in adult surviving patients with maple syrup urine disease</title><author><name sortKey="Carecchio, Miryam" sort="Carecchio, Miryam" uniqKey="Carecchio M" first="Miryam" last="Carecchio">Miryam Carecchio</name><affiliation><mods:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Amedeo Avogadro University, Novara, Italy</mods:affiliation></affiliation></author><author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name><affiliation><mods:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom</mods:affiliation></affiliation><affiliation><mods:affiliation>Schilling Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Luebeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Chan, Heidi" sort="Chan, Heidi" uniqKey="Chan H" first="Heidi" last="Chan">Heidi Chan</name><affiliation><mods:affiliation>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Lachmann, Robin" sort="Lachmann, Robin" uniqKey="Lachmann R" first="Robin" last="Lachmann">Robin Lachmann</name><affiliation><mods:affiliation>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Lee, Philip J" sort="Lee, Philip J" uniqKey="Lee P" first="Philip J." last="Lee">Philip J. Lee</name><affiliation><mods:affiliation>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Murphy, Elaine" sort="Murphy, Elaine" uniqKey="Murphy E" first="Elaine" last="Murphy">Elaine Murphy</name><affiliation><mods:affiliation>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><affiliation><mods:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-06">2011-06</date><biblScope unit="vol">26</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="1324">1324</biblScope><biblScope unit="page" to="1328">1328</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">1F8B1FDBE92F2EC85C69987B44E201D78C82A6C6</idno><idno type="DOI">10.1002/mds.23629</idno><idno type="ArticleID">MDS23629</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>dystonia</term><term>maple syrup urine disease</term><term>metabolic</term><term>movement disorders</term><term>parkinsonism</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Maple syrup urine disease is a rare metabolic disorder caused by mutations in the branched‐chain α‐keto acid dehydrogenase complex gene. Patients generally present early in life with a toxic encephalopathy because of the accumulation of the branched‐chain amino acids leucine, isoleucine, and valine and the corresponding ketoacids. Movement disorders in maple syrup urine disease have typically been described during decompensation episodes or at presentation in the context of a toxic encephalopathy, with complete resolution after appropriate dietary treatment. Movement disorders in patients surviving childhood are not well documented. We assessed 17 adult patients with maple syrup urine disease (mean age, 27.5 years) with a special focus on movement disorders. Twelve (70.6%) had a movement disorder on clinical examination, mainly tremor and dystonia or a combination of both. Parkinsonism and simple motor tics were also observed. Pyramidal signs were present in 11 patients (64.7%), and a spastic‐dystonic gait was observed in 6 patients (35.2%). In summary, movement disorders are common in treated adult patients with maple syrup urine disease, and careful neurological examination is advisable to identify those who may benefit from specific therapy. © 2011 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Miryam Carecchio MD</name><affiliations><json:string>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom</json:string><json:string>Department of Neurology, Amedeo Avogadro University, Novara, Italy</json:string></affiliations></json:item><json:item><name>Susanne A. Schneider MD, PhD</name><affiliations><json:string>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom</json:string><json:string>Schilling Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Luebeck, Germany</json:string></affiliations></json:item><json:item><name>Heidi Chan BSc</name><affiliations><json:string>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Robin Lachmann MRCP, PhD</name><affiliations><json:string>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Philip J. Lee MD, FRCP</name><affiliations><json:string>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Elaine Murphy MRCP, FRCPath</name><affiliations><json:string>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Kailash P. Bhatia MD, FRCP</name><affiliations><json:string>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>maple syrup urine disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>metabolic</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>movement disorders</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>dystonia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>parkinsonism</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Maple syrup urine disease is a rare metabolic disorder caused by mutations in the branched‐chain α‐keto acid dehydrogenase complex gene. Patients generally present early in life with a toxic encephalopathy because of the accumulation of the branched‐chain amino acids leucine, isoleucine, and valine and the corresponding ketoacids. Movement disorders in maple syrup urine disease have typically been described during decompensation episodes or at presentation in the context of a toxic encephalopathy, with complete resolution after appropriate dietary treatment. Movement disorders in patients surviving childhood are not well documented. We assessed 17 adult patients with maple syrup urine disease (mean age, 27.5 years) with a special focus on movement disorders. Twelve (70.6%) had a movement disorder on clinical examination, mainly tremor and dystonia or a combination of both. Parkinsonism and simple motor tics were also observed. Pyramidal signs were present in 11 patients (64.7%), and a spastic‐dystonic gait was observed in 6 patients (35.2%). In summary, movement disorders are common in treated adult patients with maple syrup urine disease, and careful neurological examination is advisable to identify those who may benefit from specific therapy. © 2011 Movement Disorder Society</abstract><qualityIndicators><score>5.182</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1297</abstractCharCount><pdfWordCount>2926</pdfWordCount><pdfCharCount>18978</pdfCharCount><pdfPageCount>5</pdfPageCount><abstractWordCount>188</abstractWordCount></qualityIndicators><title>Movement disorders in adult surviving patients with maple syrup urine disease</title><genre><json:string>Serial article</json:string></genre><host><volume>26</volume><pages><total>5</total><last>1328</last><first>1324</first></pages><issn><json:string>0885-3185</json:string></issn><issue>7</issue><subject><json:item><value>Research Article</value></json:item></subject><genre></genre><language><json:string>unknown</json:string></language><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2011</publicationDate><copyrightDate>2011</copyrightDate><doi><json:string>10.1002/mds.23629</json:string></doi><id>1F8B1FDBE92F2EC85C69987B44E201D78C82A6C6</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/1F8B1FDBE92F2EC85C69987B44E201D78C82A6C6/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/1F8B1FDBE92F2EC85C69987B44E201D78C82A6C6/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/1F8B1FDBE92F2EC85C69987B44E201D78C82A6C6/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Movement disorders in adult surviving patients with maple syrup urine disease</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>Wiley Subscription Services, Inc., A Wiley Company</p></availability><date>2011</date></publicationStmt><notesStmt><note>Supplemental video</note><note type="content">*Funding agencies: This work was undertaken at UCLH/UCL, which received a proportion of funding from the Department of Health's NIHR Biomedical Research Centres' funding scheme. Relevant conflicts of interest/financial disclosures: Nothing to report.Full financial disclosures and author roles may be found in the online version of this article.</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Movement disorders in adult surviving patients with maple syrup urine disease</title><author><persName><forename type="first">Miryam</forename><surname>Carecchio</surname><roleName type="degree">MD</roleName></persName><affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom</affiliation><affiliation>Department of Neurology, Amedeo Avogadro University, Novara, Italy</affiliation></author><author><persName><forename type="first">Susanne A.</forename><surname>Schneider</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom</affiliation><affiliation>Schilling Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Luebeck, Germany</affiliation></author><author><persName><forename type="first">Heidi</forename><surname>Chan</surname><roleName type="degree">BSc</roleName></persName><affiliation>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom</affiliation></author><author><persName><forename type="first">Robin</forename><surname>Lachmann</surname><roleName type="degree">MRCP, PhD</roleName></persName><affiliation>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom</affiliation></author><author><persName><forename type="first">Philip J.</forename><surname>Lee</surname><roleName type="degree">MD, FRCP</roleName></persName><affiliation>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom</affiliation></author><author><persName><forename type="first">Elaine</forename><surname>Murphy</surname><roleName type="degree">MRCP, FRCPath</roleName></persName><affiliation>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom</affiliation></author><author><persName><forename type="first">Kailash P.</forename><surname>Bhatia</surname><roleName type="degree">MD, FRCP</roleName></persName><note type="correspondence"><p>Correspondence: Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom</p></note><affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-06"></date><biblScope unit="vol">26</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="1324">1324</biblScope><biblScope unit="page" to="1328">1328</biblScope></imprint></monogr><idno type="istex">1F8B1FDBE92F2EC85C69987B44E201D78C82A6C6</idno><idno type="DOI">10.1002/mds.23629</idno><idno type="ArticleID">MDS23629</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2011</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Maple syrup urine disease is a rare metabolic disorder caused by mutations in the branched‐chain α‐keto acid dehydrogenase complex gene. Patients generally present early in life with a toxic encephalopathy because of the accumulation of the branched‐chain amino acids leucine, isoleucine, and valine and the corresponding ketoacids. Movement disorders in maple syrup urine disease have typically been described during decompensation episodes or at presentation in the context of a toxic encephalopathy, with complete resolution after appropriate dietary treatment. Movement disorders in patients surviving childhood are not well documented. We assessed 17 adult patients with maple syrup urine disease (mean age, 27.5 years) with a special focus on movement disorders. Twelve (70.6%) had a movement disorder on clinical examination, mainly tremor and dystonia or a combination of both. Parkinsonism and simple motor tics were also observed. Pyramidal signs were present in 11 patients (64.7%), and a spastic‐dystonic gait was observed in 6 patients (35.2%). In summary, movement disorders are common in treated adult patients with maple syrup urine disease, and careful neurological examination is advisable to identify those who may benefit from specific therapy. © 2011 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>maple syrup urine disease</term></item><item><term>metabolic</term></item><item><term>movement disorders</term></item><item><term>dystonia</term></item><item><term>parkinsonism</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2010-10-21">Received</change><change when="2010-12-10">Registration</change><change when="2011-06">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/1F8B1FDBE92F2EC85C69987B44E201D78C82A6C6/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="70"><doi origin="wiley" registered="yes">10.1002/mds.v26.7</doi><numberingGroup><numbering type="journalVolume" number="26">26</numbering><numbering type="journalIssue">7</numbering></numberingGroup><coverDate startDate="2011-06">June 2011</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="240" status="forIssue" accessType="open"><doi origin="wiley" registered="yes">10.1002/mds.23629</doi><idGroup><id type="unit" value="MDS23629"></id></idGroup><countGroup><count type="pageTotal" number="5"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2011 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2010-10-21"></event><event type="manuscriptRevised" date="2010-12-06"></event><event type="manuscriptAccepted" date="2010-12-10"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:3.0.1 mode:FullText" date="2011-12-15"></event><event type="publishedOnlineEarlyUnpaginated" date="2011-04-11"></event><event type="publishedOnlineFinalForm" date="2011-06-20"></event><event type="firstOnline" date="2011-04-11"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">1324</numbering><numbering type="pageLast">1328</numbering></numberingGroup><correspondenceTo>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS23629.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="2"></count><count type="referenceTotal" number="17"></count><count type="wordTotal" number="4356"></count></countGroup><titleGroup><title type="main" xml:lang="en">Movement disorders in adult surviving patients with maple syrup urine disease<link href="#fn2"></link></title><title type="short" xml:lang="en">Movement Disorders in Adult MSUD Patients</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Miryam</givenNames><familyName>Carecchio</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1 #af3"><personName><givenNames>Susanne A.</givenNames><familyName>Schneider</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Heidi</givenNames><familyName>Chan</familyName><degrees>BSc</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Robin</givenNames><familyName>Lachmann</familyName><degrees>MRCP, PhD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Philip J.</givenNames><familyName>Lee</familyName><degrees>MD, FRCP</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Elaine</givenNames><familyName>Murphy</familyName><degrees>MRCP, FRCPath</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Kailash P.</givenNames><familyName>Bhatia</familyName><degrees>MD, FRCP</degrees></personName><contactDetails><email>k.bhatia@ion.ucl.ac.uk</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="GB" type="organization"><unparsedAffiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="IT" type="organization"><unparsedAffiliation>Department of Neurology, Amedeo Avogadro University, Novara, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="DE" type="organization"><unparsedAffiliation>Schilling Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Luebeck, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="GB" type="organization"><unparsedAffiliation>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">maple syrup urine disease</keyword><keyword xml:id="kwd2">metabolic</keyword><keyword xml:id="kwd3">movement disorders</keyword><keyword xml:id="kwd4">dystonia</keyword><keyword xml:id="kwd5">parkinsonism</keyword></keywordGroup><supportingInformation><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23629:MDS23629"></mediaResource><caption>Supplemental video</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Maple syrup urine disease is a rare metabolic disorder caused by mutations in the branched‐chain α‐keto acid dehydrogenase complex gene. Patients generally present early in life with a toxic encephalopathy because of the accumulation of the branched‐chain amino acids leucine, isoleucine, and valine and the corresponding ketoacids. Movement disorders in maple syrup urine disease have typically been described during decompensation episodes or at presentation in the context of a toxic encephalopathy, with complete resolution after appropriate dietary treatment. Movement disorders in patients surviving childhood are not well documented. We assessed 17 adult patients with maple syrup urine disease (mean age, 27.5 years) with a special focus on movement disorders. Twelve (70.6%) had a movement disorder on clinical examination, mainly tremor and dystonia or a combination of both. Parkinsonism and simple motor tics were also observed. Pyramidal signs were present in 11 patients (64.7%), and a spastic‐dystonic gait was observed in 6 patients (35.2%). In summary, movement disorders are common in treated adult patients with maple syrup urine disease, and careful neurological examination is advisable to identify those who may benefit from specific therapy. © 2011 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn2"><p><b>Funding agencies:</b> This work was undertaken at UCLH/UCL, which received a proportion of funding from the Department of Health's NIHR Biomedical Research Centres' funding scheme. <b>Relevant conflicts of interest/financial disclosures:</b> Nothing to report.</p><p>Full financial disclosures and author roles may be found in the online version of this article.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Movement disorders in adult surviving patients with maple syrup urine disease</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Movement Disorders in Adult MSUD Patients</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Movement disorders in adult surviving patients with maple syrup urine disease</title></titleInfo><name type="personal"><namePart type="given">Miryam</namePart><namePart type="family">Carecchio</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom</affiliation><affiliation>Department of Neurology, Amedeo Avogadro University, Novara, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Susanne A.</namePart><namePart type="family">Schneider</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom</affiliation><affiliation>Schilling Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Luebeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Heidi</namePart><namePart type="family">Chan</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Robin</namePart><namePart type="family">Lachmann</namePart><namePart type="termsOfAddress">MRCP, PhD</namePart><affiliation>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Philip J.</namePart><namePart type="family">Lee</namePart><namePart type="termsOfAddress">MD, FRCP</namePart><affiliation>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Elaine</namePart><namePart type="family">Murphy</namePart><namePart type="termsOfAddress">MRCP, FRCPath</namePart><affiliation>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kailash P.</namePart><namePart type="family">Bhatia</namePart><namePart type="termsOfAddress">MD, FRCP</namePart><affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom</affiliation><description>Correspondence: Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2011-06</dateIssued><dateCaptured encoding="w3cdtf">2010-10-21</dateCaptured><dateValid encoding="w3cdtf">2010-12-10</dateValid><copyrightDate encoding="w3cdtf">2011</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="tables">2</extent><extent unit="references">17</extent><extent unit="words">4356</extent></physicalDescription><abstract lang="en">Maple syrup urine disease is a rare metabolic disorder caused by mutations in the branched‐chain α‐keto acid dehydrogenase complex gene. Patients generally present early in life with a toxic encephalopathy because of the accumulation of the branched‐chain amino acids leucine, isoleucine, and valine and the corresponding ketoacids. Movement disorders in maple syrup urine disease have typically been described during decompensation episodes or at presentation in the context of a toxic encephalopathy, with complete resolution after appropriate dietary treatment. Movement disorders in patients surviving childhood are not well documented. We assessed 17 adult patients with maple syrup urine disease (mean age, 27.5 years) with a special focus on movement disorders. Twelve (70.6%) had a movement disorder on clinical examination, mainly tremor and dystonia or a combination of both. Parkinsonism and simple motor tics were also observed. Pyramidal signs were present in 11 patients (64.7%), and a spastic‐dystonic gait was observed in 6 patients (35.2%). In summary, movement disorders are common in treated adult patients with maple syrup urine disease, and careful neurological examination is advisable to identify those who may benefit from specific therapy. © 2011 Movement Disorder Society</abstract><note type="additional physical form">Supplemental video</note><note type="content">*Funding agencies: This work was undertaken at UCLH/UCL, which received a proportion of funding from the Department of Health's NIHR Biomedical Research Centres' funding scheme. Relevant conflicts of interest/financial disclosures: Nothing to report. Full financial disclosures and author roles may be found in the online version of this article.</note><subject lang="en"><genre>Keywords</genre><topic>maple syrup urine disease</topic><topic>metabolic</topic><topic>movement disorders</topic><topic>dystonia</topic><topic>parkinsonism</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><subject><genre>article category</genre><topic>Research Article</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2011</date><detail type="volume"><caption>vol.</caption><number>26</number></detail><detail type="issue"><caption>no.</caption><number>7</number></detail><extent unit="pages"><start>1324</start><end>1328</end><total>5</total></extent></part></relatedItem><identifier type="istex">1F8B1FDBE92F2EC85C69987B44E201D78C82A6C6</identifier><identifier type="DOI">10.1002/mds.23629</identifier><identifier type="ArticleID">MDS23629</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2011 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Istex/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002057 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Corpus/biblio.hfd -nk 002057 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Istex
|étape= Corpus
|type= RBID
|clé= ISTEX:1F8B1FDBE92F2EC85C69987B44E201D78C82A6C6
|texte= Movement disorders in adult surviving patients with maple syrup urine disease
}}
| This area was generated with Dilib version V0.6.23. |  |