Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia
Identifieur interne : 001102 ( Istex/Corpus ); précédent : 001101; suivant : 001103Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia
Auteurs : Bheeshma Rajagopalan ; Jane M. Francis ; Fraser Cooke ; L. V. Prasad Korlipara ; Andrew M. Blamire ; Anthony H. V. Schapira ; Jason Madan ; Stefan Neubauer ; J. Mark CooperSource :
- Movement Disorders [ 0885-3185 ] ; 2010-05-15.
English descriptors
Abstract
Friedreich's ataxia (FRDA) has been associated with both cardiac hypertrophy and to a lesser degree dilated cardiomyopathy. We have conducted a cross sectional magnetic resonance imaging (MRI) study of 25 patients with clinically and genetically confirmed FRDA and 24 healthy controls to analyse how disease parameters influence cardiac features in FRDA. MR cine imaging in the long and short axis planes was performed alongside clinical assessments. LV mass was most pronounced in FRDA patients with a larger genetic mutation (GAA1 repeats >600), earlier age of onset (<16years) and a shorter disease duration (<15 years). LV mass decreased with longer disease duration (>15 years), and independent of GAA1 repeat size and age of onset, suggesting cardiac thinning occurred with prolonged disease. Heart function was lower in patients with larger GAA1 repeat number and longer disease duration. Consequently, cardiac hypertrophy was more marked in FRDA patients with a larger GAA1 repeat number and younger age of onset, while prolonged disease duration was associated with lower LV mass and decreased heart function. It is important not only to understand the biochemical basis for these cardiac changes but also allow for these changes when assessing the effect of treatment of FRDA patients. © 2010 Movement Disorder Society
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DOI: 10.1002/mds.22864
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ISTEX:21347EE11B51FE483AFF7ECDED47A3A39E71D591Le document en format XML
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Mark Cooper</name><affiliation><mods:affiliation>Clinical Neurosciences, Institute of Neurology, UCL, London, UK</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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We have conducted a cross sectional magnetic resonance imaging (MRI) study of 25 patients with clinically and genetically confirmed FRDA and 24 healthy controls to analyse how disease parameters influence cardiac features in FRDA. MR cine imaging in the long and short axis planes was performed alongside clinical assessments. LV mass was most pronounced in FRDA patients with a larger genetic mutation (GAA1 repeats >600), earlier age of onset (<16years) and a shorter disease duration (<15 years). LV mass decreased with longer disease duration (>15 years), and independent of GAA1 repeat size and age of onset, suggesting cardiac thinning occurred with prolonged disease. Heart function was lower in patients with larger GAA1 repeat number and longer disease duration. Consequently, cardiac hypertrophy was more marked in FRDA patients with a larger GAA1 repeat number and younger age of onset, while prolonged disease duration was associated with lower LV mass and decreased heart function. It is important not only to understand the biochemical basis for these cardiac changes but also allow for these changes when assessing the effect of treatment of FRDA patients. © 2010 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Bheeshma Rajagopalan FRCP</name><affiliations><json:string>Nuffield Department of Medicine, Department of Biochemistry, University of Oxford, Oxford, UK</json:string></affiliations></json:item><json:item><name>Jane M. Francis DCR(R)</name><affiliations><json:string>University of Oxford Centre for Clinical Magnetic Resonance Research, Oxford, UK</json:string></affiliations></json:item><json:item><name>Fraser Cooke MRCP</name><affiliations><json:string>Nuffield Department of Medicine, Department of Biochemistry, University of Oxford, Oxford, UK</json:string></affiliations></json:item><json:item><name>L. V. Prasad Korlipara MRCP</name><affiliations><json:string>Clinical Neurosciences, Institute of Neurology, UCL, London, UK</json:string></affiliations></json:item><json:item><name>Andrew M. Blamire PhD</name><affiliations><json:string>Nuffield Department of Medicine, Department of Biochemistry, University of Oxford, Oxford, UK</json:string></affiliations></json:item><json:item><name>Anthony H.V. Schapira FMedSci</name><affiliations><json:string>Clinical Neurosciences, Institute of Neurology, UCL, London, UK</json:string></affiliations></json:item><json:item><name>Jason Madan MSc</name><affiliations><json:string>Health Economics and Decision Science, ScHARR, University of Sheffield, Sheffield, UK</json:string></affiliations></json:item><json:item><name>Stefan Neubauer FRCP</name><affiliations><json:string>University of Oxford Centre for Clinical Magnetic Resonance Research, Oxford, UK</json:string></affiliations></json:item><json:item><name>J. Mark Cooper PhD</name><affiliations><json:string>Clinical Neurosciences, Institute of Neurology, UCL, London, UK</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>cardiomyopathy</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetics</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>magnetic resonance imaging</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Friederich's ataxia</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Friedreich's ataxia (FRDA) has been associated with both cardiac hypertrophy and to a lesser degree dilated cardiomyopathy. We have conducted a cross sectional magnetic resonance imaging (MRI) study of 25 patients with clinically and genetically confirmed FRDA and 24 healthy controls to analyse how disease parameters influence cardiac features in FRDA. MR cine imaging in the long and short axis planes was performed alongside clinical assessments. LV mass was most pronounced in FRDA patients with a larger genetic mutation (GAA1 repeats >600), earlier age of onset (>16years) and a shorter disease duration (>15 years). LV mass decreased with longer disease duration (>15 years), and independent of GAA1 repeat size and age of onset, suggesting cardiac thinning occurred with prolonged disease. Heart function was lower in patients with larger GAA1 repeat number and longer disease duration. Consequently, cardiac hypertrophy was more marked in FRDA patients with a larger GAA1 repeat number and younger age of onset, while prolonged disease duration was associated with lower LV mass and decreased heart function. 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Mark</forename><surname>Cooper</surname><roleName type="degree">PhD</roleName></persName><note type="correspondence"><p>Correspondence: Department of Clinical Neurosciences, UCL Institute of Neurology, Rowland Hill Street, London, NW3 2PF, United Kingdom</p></note><affiliation>Clinical Neurosciences, Institute of Neurology, UCL, London, UK</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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V. Prasad</givenNames><familyName>Korlipara</familyName><degrees>MRCP</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Andrew M.</givenNames><familyName>Blamire</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Anthony H.V.</givenNames><familyName>Schapira</familyName><degrees>FMedSci</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Jason</givenNames><familyName>Madan</familyName><degrees>MSc</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Stefan</givenNames><familyName>Neubauer</familyName><degrees>FRCP</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af3" corresponding="yes"><personName><givenNames>J. Mark</givenNames><familyName>Cooper</familyName><degrees>PhD</degrees></personName><contactDetails><email>j.cooper@medsch.ucl.ac.uk</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="GB" type="organization"><unparsedAffiliation>Nuffield Department of Medicine, Department of Biochemistry, University of Oxford, Oxford, UK</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="GB" type="organization"><unparsedAffiliation>University of Oxford Centre for Clinical Magnetic Resonance Research, Oxford, UK</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="GB" type="organization"><unparsedAffiliation>Clinical Neurosciences, Institute of Neurology, UCL, London, UK</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="GB" type="organization"><unparsedAffiliation>Health Economics and Decision Science, ScHARR, University of Sheffield, Sheffield, UK</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">cardiomyopathy</keyword><keyword xml:id="kwd2">genetics</keyword><keyword xml:id="kwd3">magnetic resonance imaging</keyword><keyword xml:id="kwd4">Friederich's ataxia</keyword></keywordGroup><fundingInfo><fundingAgency>Ataxia UK and the Medical Research Council</fundingAgency></fundingInfo><supportingInformation><p> Additional Supporting Information may be found in the online version of this article. </p><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds22864:MDS_22864_sm_SuppMaterials"></mediaResource><caption>Supporting Information Materials.</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Friedreich's ataxia (FRDA) has been associated with both cardiac hypertrophy and to a lesser degree dilated cardiomyopathy. We have conducted a cross sectional magnetic resonance imaging (MRI) study of 25 patients with clinically and genetically confirmed FRDA and 24 healthy controls to analyse how disease parameters influence cardiac features in FRDA. MR cine imaging in the long and short axis planes was performed alongside clinical assessments. LV mass was most pronounced in FRDA patients with a larger genetic mutation (GAA1 repeats >600), earlier age of onset (<16years) and a shorter disease duration (<15 years). LV mass decreased with longer disease duration (>15 years), and independent of GAA1 repeat size and age of onset, suggesting cardiac thinning occurred with prolonged disease. Heart function was lower in patients with larger GAA1 repeat number and longer disease duration. Consequently, cardiac hypertrophy was more marked in FRDA patients with a larger GAA1 repeat number and younger age of onset, while prolonged disease duration was associated with lower LV mass and decreased heart function. It is important not only to understand the biochemical basis for these cardiac changes but also allow for these changes when assessing the effect of treatment of FRDA patients. © 2010 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Potential conflict of interest: Nothing to report.</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>Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Cardiac Phenotype in Friedreich's Ataxia</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia</title></titleInfo><name type="personal"><namePart type="given">Bheeshma</namePart><namePart type="family">Rajagopalan</namePart><namePart type="termsOfAddress">FRCP</namePart><affiliation>Nuffield Department of Medicine, Department of Biochemistry, University of Oxford, Oxford, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jane M.</namePart><namePart type="family">Francis</namePart><namePart type="termsOfAddress">DCR(R)</namePart><affiliation>University of Oxford Centre for Clinical Magnetic Resonance Research, Oxford, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Fraser</namePart><namePart type="family">Cooke</namePart><namePart type="termsOfAddress">MRCP</namePart><affiliation>Nuffield Department of Medicine, Department of Biochemistry, University of Oxford, Oxford, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">L. V. Prasad</namePart><namePart type="family">Korlipara</namePart><namePart type="termsOfAddress">MRCP</namePart><affiliation>Clinical Neurosciences, Institute of Neurology, UCL, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Andrew M.</namePart><namePart type="family">Blamire</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Nuffield Department of Medicine, Department of Biochemistry, University of Oxford, Oxford, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anthony H.V.</namePart><namePart type="family">Schapira</namePart><namePart type="termsOfAddress">FMedSci</namePart><affiliation>Clinical Neurosciences, Institute of Neurology, UCL, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jason</namePart><namePart type="family">Madan</namePart><namePart type="termsOfAddress">MSc</namePart><affiliation>Health Economics and Decision Science, ScHARR, University of Sheffield, Sheffield, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Stefan</namePart><namePart type="family">Neubauer</namePart><namePart type="termsOfAddress">FRCP</namePart><affiliation>University of Oxford Centre for Clinical Magnetic Resonance Research, Oxford, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J. Mark</namePart><namePart type="family">Cooper</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Clinical Neurosciences, Institute of Neurology, UCL, London, UK</affiliation><description>Correspondence: Department of Clinical Neurosciences, UCL Institute of Neurology, Rowland Hill Street, London, NW3 2PF, 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">2010-05-15</dateIssued><dateCaptured encoding="w3cdtf">2008-10-08</dateCaptured><dateValid encoding="w3cdtf">2009-10-06</dateValid><copyrightDate encoding="w3cdtf">2010</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="figures">3</extent><extent unit="tables">2</extent><extent unit="references">36</extent><extent unit="words">5083</extent></physicalDescription><abstract lang="en">Friedreich's ataxia (FRDA) has been associated with both cardiac hypertrophy and to a lesser degree dilated cardiomyopathy. We have conducted a cross sectional magnetic resonance imaging (MRI) study of 25 patients with clinically and genetically confirmed FRDA and 24 healthy controls to analyse how disease parameters influence cardiac features in FRDA. MR cine imaging in the long and short axis planes was performed alongside clinical assessments. LV mass was most pronounced in FRDA patients with a larger genetic mutation (GAA1 repeats >600), earlier age of onset (<16years) and a shorter disease duration (<15 years). LV mass decreased with longer disease duration (>15 years), and independent of GAA1 repeat size and age of onset, suggesting cardiac thinning occurred with prolonged disease. Heart function was lower in patients with larger GAA1 repeat number and longer disease duration. Consequently, cardiac hypertrophy was more marked in FRDA patients with a larger GAA1 repeat number and younger age of onset, while prolonged disease duration was associated with lower LV mass and decreased heart function. It is important not only to understand the biochemical basis for these cardiac changes but also allow for these changes when assessing the effect of treatment of FRDA patients. © 2010 Movement Disorder Society</abstract><note type="content">*Potential conflict of interest: Nothing to report.</note><note type="funding">Ataxia UK and the Medical Research Council</note><subject lang="en"><genre>Keywords</genre><topic>cardiomyopathy</topic><topic>genetics</topic><topic>magnetic resonance imaging</topic><topic>Friederich's ataxia</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><note type="content"> Additional Supporting Information may be found in the online version of this article.Supporting Info Item: Supporting Information Materials. - </note><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>2010</date><detail type="volume"><caption>vol.</caption><number>25</number></detail><detail type="issue"><caption>no.</caption><number>7</number></detail><extent unit="pages"><start>846</start><end>852</end><total>7</total></extent></part></relatedItem><identifier type="istex">21347EE11B51FE483AFF7ECDED47A3A39E71D591</identifier><identifier type="DOI">10.1002/mds.22864</identifier><identifier type="ArticleID">MDS22864</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2010 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)
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