Analysis of the Factors Influencing the Cardiac Phenotype in Friedreich's Ataxia
Identifieur interne : 002790 ( Main/Merge ); précédent : 002789; suivant : 002791Analysis of the Factors Influencing the Cardiac Phenotype in Friedreich's Ataxia
Auteurs : Bheeshma Rajagopalan [Royaume-Uni] ; Jane M. Francis [Royaume-Uni] ; Fraser Cooke [Royaume-Uni] ; L. V. Prasad Korlipara [Royaume-Uni] ; Andrew M. Blamire [Royaume-Uni] ; Anthony H. V. Schapira [Royaume-Uni] ; Jason Madan [Royaume-Uni] ; Stefan Neubauer [Royaume-Uni] ; J. Mark Cooper [Royaume-Uni]Source :
- Movement disorders [ 0885-3185 ] ; 2010.
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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.
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Francis</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>University of Oxford Centre for Clinical Magnetic Resonance Research</s1><s2>Oxford</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Cooke, Fraser" sort="Cooke, Fraser" uniqKey="Cooke F" first="Fraser" last="Cooke">Fraser Cooke</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Nuffield Department of Medicine, Department of Biochemistry, University of Oxford</s1><s2>Oxford</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region></placeName><orgName type="university">Université d'Oxford</orgName></affiliation></author><author><name sortKey="Prasad Korlipara, L V" sort="Prasad Korlipara, L V" uniqKey="Prasad Korlipara L" first="L. V." last="Prasad Korlipara">L. V. Prasad Korlipara</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Clinical Neurosciences, Institute of Neurology, UCL</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Blamire, Andrew M" sort="Blamire, Andrew M" uniqKey="Blamire A" first="Andrew M." last="Blamire">Andrew M. Blamire</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Nuffield Department of Medicine, Department of Biochemistry, University of Oxford</s1><s2>Oxford</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region></placeName><orgName type="university">Université d'Oxford</orgName></affiliation></author><author><name sortKey="Schapira, Anthony H V" sort="Schapira, Anthony H V" uniqKey="Schapira A" first="Anthony H. V." last="Schapira">Anthony H. V. Schapira</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Clinical Neurosciences, Institute of Neurology, UCL</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Madan, Jason" sort="Madan, Jason" uniqKey="Madan J" first="Jason" last="Madan">Jason Madan</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Health Economics and Decision Science, ScHARR, University of Sheffield</s1><s2>Sheffield</s2><s3>GBR</s3><sZ>7 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Sheffield</wicri:noRegion></affiliation></author><author><name sortKey="Neubauer, Stefan" sort="Neubauer, Stefan" uniqKey="Neubauer S" first="Stefan" last="Neubauer">Stefan Neubauer</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>University of Oxford Centre for Clinical Magnetic Resonance Research</s1><s2>Oxford</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Cooper, J Mark" sort="Cooper, J Mark" uniqKey="Cooper J" first="J. Mark" last="Cooper">J. Mark Cooper</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Clinical Neurosciences, Institute of Neurology, UCL</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ataxia</term><term>Cardiomyopathy</term><term>Factor analysis</term><term>Friedreich ataxia</term><term>Nervous system diseases</term><term>Nuclear magnetic resonance imaging</term><term>Phenotype</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Hérédodégénérescence spinocérébelleuse de Friedreich</term><term>Cardiomyopathie</term><term>Ataxie</term><term>Pathologie du système nerveux</term><term>Analyse factorielle</term><term>Phénotype</term><term>Imagerie RMN</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml: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.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Oxfordshire</li></region><settlement><li>Londres</li><li>Oxford</li></settlement><orgName><li>Université d'Oxford</li></orgName></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Rajagopalan, Bheeshma" sort="Rajagopalan, Bheeshma" uniqKey="Rajagopalan B" first="Bheeshma" last="Rajagopalan">Bheeshma Rajagopalan</name></region><name sortKey="Blamire, Andrew M" sort="Blamire, Andrew M" uniqKey="Blamire A" first="Andrew M." last="Blamire">Andrew M. Blamire</name><name sortKey="Cooke, Fraser" sort="Cooke, Fraser" uniqKey="Cooke F" first="Fraser" last="Cooke">Fraser Cooke</name><name sortKey="Cooper, J Mark" sort="Cooper, J Mark" uniqKey="Cooper J" first="J. Mark" last="Cooper">J. Mark Cooper</name><name sortKey="Francis, Jane M" sort="Francis, Jane M" uniqKey="Francis J" first="Jane M." last="Francis">Jane M. Francis</name><name sortKey="Madan, Jason" sort="Madan, Jason" uniqKey="Madan J" first="Jason" last="Madan">Jason Madan</name><name sortKey="Neubauer, Stefan" sort="Neubauer, Stefan" uniqKey="Neubauer S" first="Stefan" last="Neubauer">Stefan Neubauer</name><name sortKey="Prasad Korlipara, L V" sort="Prasad Korlipara, L V" uniqKey="Prasad Korlipara L" first="L. V." last="Prasad Korlipara">L. V. Prasad Korlipara</name><name sortKey="Schapira, Anthony H V" sort="Schapira, Anthony H V" uniqKey="Schapira A" first="Anthony H. V." last="Schapira">Anthony H. V. Schapira</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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