MovDisordV3, PascalFrancis, Corpus, bibRecord, 000B16

Analysis of the Factors Influencing the Cardiac Phenotype in Friedreich's Ataxia

Identifieur interne : 000B16 ( PascalFrancis/Corpus ); précédent : 000B15; suivant : 000B17

Analysis 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 Cooper

Source :

Movement disorders [ 0885-3185 ] ; 2010.

RBID : Pascal:10-0288338

Descripteurs français

Pascal (Inist)
- Hérédodégénérescence spinocérébelleuse de Friedreich, Cardiomyopathie, Ataxie, Pathologie du système nerveux, Analyse factorielle, Phénotype, Imagerie RMN.

English descriptors

KwdEn :
- Ataxia, Cardiomyopathy, Factor analysis, Friedreich ataxia, Nervous system diseases, Nuclear magnetic resonance imaging, Phenotype.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A11	`01`	`1`		`@1 RAJAGOPALAN (Bheeshma)`
A11	`02`	`1`		`@1 FRANCIS (Jane M.)`
A11	`03`	`1`		`@1 COOKE (Fraser)`
A11	`04`	`1`		`@1 PRASAD KORLIPARA (L. V.)`
A11	`05`	`1`		`@1 BLAMIRE (Andrew M.)`
A11	`06`	`1`		`@1 SCHAPIRA (Anthony H. V.)`
A11	`07`	`1`		`@1 MADAN (Jason)`
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A11	`09`	`1`		`@1 COOPER (J. Mark)`
A14	`01`			`@1 Nuffield Department of Medicine, Department of Biochemistry, University of Oxford @2 Oxford @3 GBR @Z 1 aut. @Z 3 aut. @Z 5 aut.`
A14	`02`			`@1 University of Oxford Centre for Clinical Magnetic Resonance Research @2 Oxford @3 GBR @Z 2 aut. @Z 8 aut.`
A14	`03`			`@1 Clinical Neurosciences, Institute of Neurology, UCL @2 London @3 GBR @Z 4 aut. @Z 6 aut. @Z 9 aut.`
A14	`04`			`@1 Health Economics and Decision Science, ScHARR, University of Sheffield @2 Sheffield @3 GBR @Z 7 aut.`
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C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
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C03	`01`	`X`	`FRE`	`@0 Hérédodégénérescence spinocérébelleuse de Friedreich @5 01`
C03	`01`	`X`	`ENG`	`@0 Friedreich ataxia @5 01`
C03	`01`	`X`	`SPA`	`@0 Heredodegeneración espinocerebelosa Friedreich @5 01`
C03	`02`	`X`	`FRE`	`@0 Cardiomyopathie @5 02`
C03	`02`	`X`	`ENG`	`@0 Cardiomyopathy @5 02`
C03	`02`	`X`	`SPA`	`@0 Cardiomiopatía @5 02`
C03	`03`	`X`	`FRE`	`@0 Ataxie @5 03`
C03	`03`	`X`	`ENG`	`@0 Ataxia @5 03`
C03	`03`	`X`	`SPA`	`@0 Ataxia @5 03`
C03	`04`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 04`
C03	`04`	`X`	`ENG`	`@0 Nervous system diseases @5 04`
C03	`04`	`X`	`SPA`	`@0 Sistema nervioso patología @5 04`
C03	`05`	`X`	`FRE`	`@0 Analyse factorielle @5 09`
C03	`05`	`X`	`ENG`	`@0 Factor analysis @5 09`
C03	`05`	`X`	`SPA`	`@0 Análisis factorial @5 09`
C03	`06`	`X`	`FRE`	`@0 Phénotype @5 10`
C03	`06`	`X`	`ENG`	`@0 Phenotype @5 10`
C03	`06`	`X`	`SPA`	`@0 Fenotipo @5 10`
C03	`07`	`X`	`FRE`	`@0 Imagerie RMN @5 11`
C03	`07`	`X`	`ENG`	`@0 Nuclear magnetic resonance imaging @5 11`
C03	`07`	`X`	`SPA`	`@0 Imaginería RMN @5 11`
C07	`01`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 37`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Maladie dégénérative @5 38`
C07	`02`	`X`	`ENG`	`@0 Degenerative disease @5 38`
C07	`02`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 38`
C07	`03`	`X`	`FRE`	`@0 Maladie héréditaire @5 39`
C07	`03`	`X`	`ENG`	`@0 Genetic disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 39`
C07	`04`	`X`	`FRE`	`@0 Pathologie de la moelle épinière @5 40`
C07	`04`	`X`	`ENG`	`@0 Spinal cord disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Médula espinal patología @5 40`
C07	`05`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 41`
C07	`05`	`X`	`ENG`	`@0 Central nervous system disease @5 41`
C07	`05`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 41`
C07	`06`	`X`	`FRE`	`@0 Pathologie de l'appareil circulatoire @5 43`
C07	`06`	`X`	`ENG`	`@0 Cardiovascular disease @5 43`
C07	`06`	`X`	`SPA`	`@0 Aparato circulatorio patología @5 43`
C07	`07`	`X`	`FRE`	`@0 Cardiopathie @5 44`
C07	`07`	`X`	`ENG`	`@0 Heart disease @5 44`
C07	`07`	`X`	`SPA`	`@0 Cardiopatía @5 44`
C07	`08`	`X`	`FRE`	`@0 Pathologie du myocarde @5 45`
C07	`08`	`X`	`ENG`	`@0 Myocardial disease @5 45`
C07	`08`	`X`	`SPA`	`@0 Miocardio patología @5 45`
C07	`09`	`X`	`FRE`	`@0 Trouble neurologique @5 46`
C07	`09`	`X`	`ENG`	`@0 Neurological disorder @5 46`
C07	`09`	`X`	`SPA`	`@0 Trastorno neurológico @5 46`
N21				`@1 186`
N44	`01`			`@1 OTO`
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Format Inist (serveur)

NO :	PASCAL 10-0288338 INIST
ET :	Analysis of the Factors Influencing the Cardiac Phenotype in Friedreich's Ataxia
AU :	RAJAGOPALAN (Bheeshma); FRANCIS (Jane M.); COOKE (Fraser); PRASAD KORLIPARA (L. V.); BLAMIRE (Andrew M.); SCHAPIRA (Anthony H. V.); MADAN (Jason); NEUBAUER (Stefan); COOPER (J. Mark)
AF :	Nuffield Department of Medicine, Department of Biochemistry, University of Oxford/Oxford/Royaume-Uni (1 aut., 3 aut., 5 aut.); University of Oxford Centre for Clinical Magnetic Resonance Research/Oxford/Royaume-Uni (2 aut., 8 aut.); Clinical Neurosciences, Institute of Neurology, UCL/London/Royaume-Uni (4 aut., 6 aut., 9 aut.); Health Economics and Decision Science, ScHARR, University of Sheffield/Sheffield/Royaume-Uni (7 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 7; Pp. 846-852; Bibl. 36 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17G
FD :	Hérédodégénérescence spinocérébelleuse de Friedreich; Cardiomyopathie; Ataxie; Pathologie du système nerveux; Analyse factorielle; Phénotype; Imagerie RMN
FG :	Pathologie de l'encéphale; Maladie dégénérative; Maladie héréditaire; Pathologie de la moelle épinière; Pathologie du système nerveux central; Pathologie de l'appareil circulatoire; Cardiopathie; Pathologie du myocarde; Trouble neurologique
ED :	Friedreich ataxia; Cardiomyopathy; Ataxia; Nervous system diseases; Factor analysis; Phenotype; Nuclear magnetic resonance imaging
EG :	Cerebral disorder; Degenerative disease; Genetic disease; Spinal cord disease; Central nervous system disease; Cardiovascular disease; Heart disease; Myocardial disease; Neurological disorder
SD :	Heredodegeneración espinocerebelosa Friedreich; Cardiomiopatía; Ataxia; Sistema nervioso patología; Análisis factorial; Fenotipo; Imaginería RMN
LO :	INIST-20953.354000193040220050
ID :	10-0288338

Links to Exploration step

Pascal:10-0288338

Le document en format XML

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<series><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ataxia</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Hérédodégénérescence spinocérébelleuse de Friedreich</term>
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<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>
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<fA14 i1="01"><s1>Nuffield Department of Medicine, Department of Biochemistry, University of Oxford</s1>
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<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
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<fA14 i1="02"><s1>University of Oxford Centre for Clinical Magnetic Resonance Research</s1>
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<sZ>6 aut.</sZ>
<sZ>9 aut.</sZ>
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<fA14 i1="04"><s1>Health Economics and Decision Science, ScHARR, University of Sheffield</s1>
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<sZ>7 aut.</sZ>
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<s5>40</s5>
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<s5>40</s5>
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<s5>41</s5>
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<server><NO>PASCAL 10-0288338 INIST</NO>
<ET>Analysis of the Factors Influencing the Cardiac Phenotype in Friedreich's Ataxia</ET>
<AU>RAJAGOPALAN (Bheeshma); FRANCIS (Jane M.); COOKE (Fraser); PRASAD KORLIPARA (L. V.); BLAMIRE (Andrew M.); SCHAPIRA (Anthony H. V.); MADAN (Jason); NEUBAUER (Stefan); COOPER (J. Mark)</AU>
<AF>Nuffield Department of Medicine, Department of Biochemistry, University of Oxford/Oxford/Royaume-Uni (1 aut., 3 aut., 5 aut.); University of Oxford Centre for Clinical Magnetic Resonance Research/Oxford/Royaume-Uni (2 aut., 8 aut.); Clinical Neurosciences, Institute of Neurology, UCL/London/Royaume-Uni (4 aut., 6 aut., 9 aut.); Health Economics and Decision Science, ScHARR, University of Sheffield/Sheffield/Royaume-Uni (7 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 7; Pp. 846-852; Bibl. 36 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17G</CC>
<FD>Hérédodégénérescence spinocérébelleuse de Friedreich; Cardiomyopathie; Ataxie; Pathologie du   système nerveux; Analyse factorielle; Phénotype; Imagerie RMN</FD>
<FG>Pathologie de l'encéphale; Maladie dégénérative; Maladie héréditaire; Pathologie de la moelle épinière; Pathologie du système nerveux central; Pathologie de l'appareil circulatoire; Cardiopathie; Pathologie du myocarde; Trouble neurologique</FG>
<ED>Friedreich ataxia; Cardiomyopathy; Ataxia; Nervous system diseases; Factor analysis; Phenotype; Nuclear magnetic resonance imaging</ED>
<EG>Cerebral disorder; Degenerative disease; Genetic disease; Spinal cord disease; Central nervous system disease; Cardiovascular disease; Heart disease; Myocardial disease; Neurological disorder</EG>
<SD>Heredodegeneración espinocerebelosa Friedreich; Cardiomiopatía; Ataxia; Sistema nervioso patología; Análisis factorial; Fenotipo; Imaginería RMN</SD>
<LO>INIST-20953.354000193040220050</LO>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Analysis of the Factors Influencing the Cardiac Phenotype in Friedreich's Ataxia

Analysis of the Factors Influencing the Cardiac Phenotype in Friedreich's Ataxia

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