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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Rating disease progression of Friedreich’s ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database</title><author><name sortKey="Metz, Gunther" sort="Metz, Gunther" uniqKey="Metz G" first="Günther" last="Metz">Günther Metz</name><affiliation><nlm:aff id="aws309-AFF1">1 Santhera Pharmaceuticals, Liestal, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Coppard, Nicholas" sort="Coppard, Nicholas" uniqKey="Coppard N" first="Nicholas" last="Coppard">Nicholas Coppard</name><affiliation><nlm:aff id="aws309-AFF1">1 Santhera Pharmaceuticals, Liestal, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Cooper, Jonathon M" sort="Cooper, Jonathon M" uniqKey="Cooper J" first="Jonathon M." last="Cooper">Jonathon M. Cooper</name><affiliation><nlm:aff id="aws309-AFF2">2 Department of Clinical Neurosciences, UCL Institute of Neurology, London, UK</nlm:aff></affiliation></author><author><name sortKey="Delatycki, Martin B" sort="Delatycki, Martin B" uniqKey="Delatycki M" first="Martin B." last="Delatycki">Martin B. Delatycki</name><affiliation><nlm:aff id="aws309-AFF3">3 Bruce Lefroy Centre for Genetic Health Research, Murdoch Children’s Research Institute, Parkville, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation><nlm:aff id="aws309-AFF4">4 Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aws309-AFF5">5 INSERM U975, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Di Prospero, Nicholas A" sort="Di Prospero, Nicholas A" uniqKey="Di Prospero N" first="Nicholas A." last="Di Prospero">Nicholas A. Di Prospero</name><affiliation><nlm:aff id="aws309-AFF6">6 Neurogenetics Branch, NINDS, NIH, Bethesda, MD, USA</nlm:aff></affiliation></author><author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name><affiliation><nlm:aff id="aws309-AFF7">7 Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK</nlm:aff></affiliation></author><author><name sortKey="Lynch, David R" sort="Lynch, David R" uniqKey="Lynch D" first="David R." last="Lynch">David R. Lynch</name><affiliation><nlm:aff id="aws309-AFF8">8 Division of Neurology, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Schulz, J B" sort="Schulz, J B" uniqKey="Schulz J" first="J. B." last="Schulz">J. B. Schulz</name><affiliation><nlm:aff id="aws309-AFF9">9 Department of Neurology, University Hospital, RWTH Aachen and JARA-Brain, Aachen, Germany</nlm:aff></affiliation></author><author><name sortKey="Rummey, Christian" sort="Rummey, Christian" uniqKey="Rummey C" first="Christian" last="Rummey">Christian Rummey</name><affiliation><nlm:aff id="aws309-AFF10">10 4Pharma, Liestal, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Meier, Thomas" sort="Meier, Thomas" uniqKey="Meier T" first="Thomas" last="Meier">Thomas Meier</name><affiliation><nlm:aff id="aws309-AFF1">1 Santhera Pharmaceuticals, Liestal, Switzerland</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23365101</idno><idno type="pmc">3624678</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3624678</idno><idno type="RBID">PMC:3624678</idno><idno type="doi">10.1093/brain/aws309</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">000177</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000177</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Rating disease progression of Friedreich’s ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database</title><author><name sortKey="Metz, Gunther" sort="Metz, Gunther" uniqKey="Metz G" first="Günther" last="Metz">Günther Metz</name><affiliation><nlm:aff id="aws309-AFF1">1 Santhera Pharmaceuticals, Liestal, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Coppard, Nicholas" sort="Coppard, Nicholas" uniqKey="Coppard N" first="Nicholas" last="Coppard">Nicholas Coppard</name><affiliation><nlm:aff id="aws309-AFF1">1 Santhera Pharmaceuticals, Liestal, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Cooper, Jonathon M" sort="Cooper, Jonathon M" uniqKey="Cooper J" first="Jonathon M." last="Cooper">Jonathon M. Cooper</name><affiliation><nlm:aff id="aws309-AFF2">2 Department of Clinical Neurosciences, UCL Institute of Neurology, London, UK</nlm:aff></affiliation></author><author><name sortKey="Delatycki, Martin B" sort="Delatycki, Martin B" uniqKey="Delatycki M" first="Martin B." last="Delatycki">Martin B. Delatycki</name><affiliation><nlm:aff id="aws309-AFF3">3 Bruce Lefroy Centre for Genetic Health Research, Murdoch Children’s Research Institute, Parkville, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation><nlm:aff id="aws309-AFF4">4 Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aws309-AFF5">5 INSERM U975, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Di Prospero, Nicholas A" sort="Di Prospero, Nicholas A" uniqKey="Di Prospero N" first="Nicholas A." last="Di Prospero">Nicholas A. Di Prospero</name><affiliation><nlm:aff id="aws309-AFF6">6 Neurogenetics Branch, NINDS, NIH, Bethesda, MD, USA</nlm:aff></affiliation></author><author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name><affiliation><nlm:aff id="aws309-AFF7">7 Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK</nlm:aff></affiliation></author><author><name sortKey="Lynch, David R" sort="Lynch, David R" uniqKey="Lynch D" first="David R." last="Lynch">David R. Lynch</name><affiliation><nlm:aff id="aws309-AFF8">8 Division of Neurology, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Schulz, J B" sort="Schulz, J B" uniqKey="Schulz J" first="J. B." last="Schulz">J. B. Schulz</name><affiliation><nlm:aff id="aws309-AFF9">9 Department of Neurology, University Hospital, RWTH Aachen and JARA-Brain, Aachen, Germany</nlm:aff></affiliation></author><author><name sortKey="Rummey, Christian" sort="Rummey, Christian" uniqKey="Rummey C" first="Christian" last="Rummey">Christian Rummey</name><affiliation><nlm:aff id="aws309-AFF10">10 4Pharma, Liestal, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Meier, Thomas" sort="Meier, Thomas" uniqKey="Meier T" first="Thomas" last="Meier">Thomas Meier</name><affiliation><nlm:aff id="aws309-AFF1">1 Santhera Pharmaceuticals, Liestal, Switzerland</nlm:aff></affiliation></author></analytic><series><title level="j">Brain</title><idno type="ISSN">0006-8950</idno><idno type="eISSN">1460-2156</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>The aim of this cross-sectional study was to analyse disease progression in Friedreich’s ataxia as measured by the International Cooperative Ataxia Rating Scale. Single ratings from 603 patients with Friedreich’s ataxia were analysed as a function of disease duration, age of onset and GAA repeat lengths. The relative contribution of items and subscales to the total score was studied as a function of disease progression. In addition, the scaling properties were assessed using standard statistical measures. Average total scale progression per year depends on the age of disease onset, the time since diagnosis and the GAA repeat length. The age of onset inversely correlates with increased GAA repeat length. For patients with an age of onset ≤14 years associated with a longer repeat length, the average yearly rate of decline was 2.5 ± 0.18 points in the total International Cooperative Ataxia Rating Scale for the first 20 years of disease duration, whereas patients with a later onset progress more slowly (1.8 ± 0.27 points/year). Ceiling effects in posture, gait and lower limb scale items lead to a reduced sensitivity of the scale in the severely affected population with a total score of >60 points. Psychometric scaling analysis shows generally favourable properties for the total scale, but the subscale grouping could be improved. This cross-sectional study provides a detailed characterization of the International Cooperative Ataxia Rating Scale. The analysis further provides rates of change separated for patients with early and late disease onset, which is driven by the GAA repeat length. Differences in the subscale dynamics merit consideration in the design of future clinical trials applying this scale as a neurological assessment instrument in Friedreich’s ataxia.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Brain</journal-id><journal-id journal-id-type="iso-abbrev">Brain</journal-id><journal-id journal-id-type="publisher-id">brainj</journal-id><journal-id journal-id-type="hwp">brain</journal-id><journal-title-group><journal-title>Brain</journal-title></journal-title-group><issn pub-type="ppub">0006-8950</issn><issn pub-type="epub">1460-2156</issn><publisher><publisher-name>Oxford University Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">23365101</article-id><article-id pub-id-type="pmc">3624678</article-id><article-id pub-id-type="doi">10.1093/brain/aws309</article-id><article-id pub-id-type="publisher-id">aws309</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original Articles</subject></subj-group></article-categories><title-group><article-title>Rating disease progression of Friedreich’s ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database</article-title></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name><surname>Metz</surname><given-names>Günther</given-names></name><xref ref-type="aff" rid="aws309-AFF1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Coppard</surname><given-names>Nicholas</given-names></name><xref ref-type="aff" rid="aws309-AFF1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Cooper</surname><given-names>Jonathon M.</given-names></name><xref ref-type="aff" rid="aws309-AFF2"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Delatycki</surname><given-names>Martin B.</given-names></name><xref ref-type="aff" rid="aws309-AFF3"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Dürr</surname><given-names>Alexandra</given-names></name><xref ref-type="aff" rid="aws309-AFF4"><sup>4</sup></xref><xref ref-type="aff" rid="aws309-AFF5"><sup>5</sup></xref></contrib><contrib contrib-type="author"><name><surname>Di Prospero</surname><given-names>Nicholas A.</given-names></name><xref ref-type="aff" rid="aws309-AFF6"><sup>6</sup></xref><xref ref-type="author-notes" rid="aws309-FN1">*</xref></contrib><contrib contrib-type="author"><name><surname>Giunti</surname><given-names>Paola</given-names></name><xref ref-type="aff" rid="aws309-AFF7"><sup>7</sup></xref><xref ref-type="author-notes" rid="aws309-FN2"><sup>†</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lynch</surname><given-names>David R.</given-names></name><xref ref-type="aff" rid="aws309-AFF8"><sup>8</sup></xref><xref ref-type="author-notes" rid="aws309-FN3"><sup>‡</sup></xref></contrib><contrib contrib-type="author"><name><surname>Schulz</surname><given-names>J. B.</given-names></name><xref ref-type="aff" rid="aws309-AFF9"><sup>9</sup></xref><xref ref-type="author-notes" rid="aws309-FN2"><sup>†</sup></xref></contrib><contrib contrib-type="author"><name><surname>Rummey</surname><given-names>Christian</given-names></name><xref ref-type="aff" rid="aws309-AFF10"><sup>10</sup></xref></contrib><contrib contrib-type="author"><name><surname>Meier</surname><given-names>Thomas</given-names></name><xref ref-type="aff" rid="aws309-AFF1"><sup>1</sup></xref></contrib></contrib-group><aff id="aws309-AFF1">1 Santhera Pharmaceuticals, Liestal, Switzerland</aff><aff id="aws309-AFF2">2 Department of Clinical Neurosciences, UCL Institute of Neurology, London, UK</aff><aff id="aws309-AFF3">3 Bruce Lefroy Centre for Genetic Health Research, Murdoch Children’s Research Institute, Parkville, Victoria, Australia</aff><aff id="aws309-AFF4">4 Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, Paris, France</aff><aff id="aws309-AFF5">5 INSERM U975, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, Paris, France</aff><aff id="aws309-AFF6">6 Neurogenetics Branch, NINDS, NIH, Bethesda, MD, USA</aff><aff id="aws309-AFF7">7 Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK</aff><aff id="aws309-AFF8">8 Division of Neurology, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA</aff><aff id="aws309-AFF9">9 Department of Neurology, University Hospital, RWTH Aachen and JARA-Brain, Aachen, Germany</aff><aff id="aws309-AFF10">10 4Pharma, Liestal, Switzerland</aff><author-notes><corresp>Correspondence to: Günther Metz, PhD, Santhera Pharmaceuticals, Hammerstrasse 49, CH-4410 Liestal, Switzerland E-mail: <email>guenther.metz@santhera.com</email></corresp><fn id="aws309-FN1"><p>*On behalf of the NICOSIA study investigators (Appendix I).</p></fn><fn id="aws309-FN2"><p><sup>†</sup>On behalf of the MICONOS study investigators (Appendix I).</p></fn><fn id="aws309-FN3"><p><sup>‡</sup>On behalf of the IONIA study investigators (Appendix I).</p></fn></author-notes><pub-date pub-type="ppub"><month>1</month><year>2013</year></pub-date><pub-date pub-type="epub"><day>28</day><month>1</month><year>2013</year></pub-date><pub-date pub-type="pmc-release"><day>1</day><month>1</month><year>2014</year></pub-date><pmc-comment> PMC Release delay is 12 months and
0 days and was based on the
<volume>136</volume><issue>1</issue><fpage>259</fpage><lpage>268</lpage><history><date date-type="received"><day>26</day><month>3</month><year>2012</year></date><date date-type="rev-recd"><day>5</day><month>9</month><year>2012</year></date><date date-type="accepted"><day>19</day><month>9</month><year>2012</year></date></history><permissions><copyright-statement>© The Author (2013). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com</copyright-statement><copyright-year>2013</copyright-year></permissions><abstract><p>The aim of this cross-sectional study was to analyse disease progression in Friedreich’s ataxia as measured by the International Cooperative Ataxia Rating Scale. Single ratings from 603 patients with Friedreich’s ataxia were analysed as a function of disease duration, age of onset and GAA repeat lengths. The relative contribution of items and subscales to the total score was studied as a function of disease progression. In addition, the scaling properties were assessed using standard statistical measures. Average total scale progression per year depends on the age of disease onset, the time since diagnosis and the GAA repeat length. The age of onset inversely correlates with increased GAA repeat length. For patients with an age of onset ≤14 years associated with a longer repeat length, the average yearly rate of decline was 2.5 ± 0.18 points in the total International Cooperative Ataxia Rating Scale for the first 20 years of disease duration, whereas patients with a later onset progress more slowly (1.8 ± 0.27 points/year). Ceiling effects in posture, gait and lower limb scale items lead to a reduced sensitivity of the scale in the severely affected population with a total score of >60 points. Psychometric scaling analysis shows generally favourable properties for the total scale, but the subscale grouping could be improved. This cross-sectional study provides a detailed characterization of the International Cooperative Ataxia Rating Scale. The analysis further provides rates of change separated for patients with early and late disease onset, which is driven by the GAA repeat length. Differences in the subscale dynamics merit consideration in the design of future clinical trials applying this scale as a neurological assessment instrument in Friedreich’s ataxia.</p></abstract><kwd-group kwd-group-type="keywords"><kwd>Friedreich’s ataxia</kwd><kwd>ratings scale</kwd><kwd>ICARS</kwd><kwd>disease progression</kwd><kwd>natural history</kwd></kwd-group><counts><page-count count="10"></page-count></counts></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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