Annual Change in Friedreich's Ataxia Evaluated by the Scale for the Assessment and Rating of Ataxia (SARA) is Independent of Disease Severity
Identifieur interne : 000131 ( France/Analysis ); précédent : 000130; suivant : 000132Annual Change in Friedreich's Ataxia Evaluated by the Scale for the Assessment and Rating of Ataxia (SARA) is Independent of Disease Severity
Auteurs : Cecilia Marelli [France] ; Julie Figoni [France] ; Perrine Charles [France] ; Mathieu Anheim [France] ; Maya Tchikviladze [France] ; Carlo-Maria Vincitorio [France] ; Sophie Tezenas Du Montcel [France] ; Alexis Brice [France] ; Jean Louis Golmard [France] ; Alexandra Dürr [France]Source :
- Movement disorders [ 0885-3185 ] ; 2012.
Descripteurs français
- Pascal (Inist)
English descriptors
Abstract
Background: The objective of the study was to evaluate the sensitivity to change of the Scale for the Assessment and Rating of Ataxia (score, 0-40) in Friedreich's ataxia. Methods: This was a follow-up study in adult patients with genetically confirmed Friedreich's ataxia evaluated at least twice (minimum interval, 6 months). Participants were outpatients at the Center for Neurogenetics of the Pitie-Salpêtrière Hospital in Paris. Results: We included 84 patients; 60% had 3 or more evaluations. The mean score on first assessment was 22.7 ± 9, and the mean follow-up was 1.84 ± 1.10 years. The mean increase was 1.36 ± 2.3 points/ year; this variation was not significantly linked to factors known to influence disease severity such as age at onset, disease duration, GAA expansion length, and wheelchair use. Conclusions: In adult Friedreich's ataxia patients the Scale for the Assessment and Rating of Ataxia can detect annual changes independently of disease severity. In future therapeutic trials no patient stratification is globally required.
Affiliations:
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type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Figoni, Julie" sort="Figoni, Julie" uniqKey="Figoni J" first="Julie" last="Figoni">Julie Figoni</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>AP-HP, Department of Biostatistics and Medical Informatics and Pitié-Salpêtriére Charles-Foix Clinical Research Unit</s1><s2>Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>P-HP, Hôpital Pitié-Salpêtriére, Department of Genetics and Cytogenetics</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>10 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Maya" sort="Tchikviladze, Maya" uniqKey="Tchikviladze M" first="Maya" last="Tchikviladze">Maya Tchikviladze</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>P-HP, Hôpital Pitié-Salpêtriére, Department of Genetics and Cytogenetics</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Vincitorio, Carlo Maria" sort="Vincitorio, Carlo Maria" uniqKey="Vincitorio C" first="Carlo-Maria" last="Vincitorio">Carlo-Maria Vincitorio</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>P-HP, Hôpital Pitié-Salpêtriére, Department of Genetics and Cytogenetics</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><settlement 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i1="04"><s1>P-HP, Hôpital Pitié-Salpêtriére, Department of Genetics and Cytogenetics</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>AP-HP, Pitié-Salpêtrière Hospital, Federation of the Nervous System Diseases</s1><s2>Paris</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Golmard, Jean Louis" sort="Golmard, Jean Louis" uniqKey="Golmard J" first="Jean Louis" last="Golmard">Jean Louis Golmard</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>AP-HP, Department of Biostatistics and Medical Informatics and Pitié-Salpêtriére Charles-Foix Clinical Research Unit</s1><s2>Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Université Pierre et Marie Curie-Paris6, ER4 (formerly EA 3974), Modeling in Clinical Research</s1><s2>Paris</s2><s3>FRA</s3><sZ>7 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Université Pierre et Marie Curie-Paris6, Centre de Recherche de l'Institut du Cerveau et de la Moelle epiniere</s1><s2>UMR-S975, Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Inserm</s1><s2>U975, Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Cnrs</s1><s2>UMR 7225, Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>P-HP, Hôpital Pitié-Salpêtriére, Department of Genetics and Cytogenetics</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></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="2012">2012</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>Evaluation scale</term><term>Friedreich ataxia</term><term>Nervous system diseases</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Hérédodégénérescence spinocérébelleuse de Friedreich</term><term>Ataxie</term><term>Pathologie du système nerveux</term><term>Echelle d'évaluation</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background: The objective of the study was to evaluate the sensitivity to change of the Scale for the Assessment and Rating of Ataxia (score, 0-40) in Friedreich's ataxia. Methods: This was a follow-up study in adult patients with genetically confirmed Friedreich's ataxia evaluated at least twice (minimum interval, 6 months). Participants were outpatients at the Center for Neurogenetics of the Pitie-Salpêtrière Hospital in Paris. Results: We included 84 patients; 60% had 3 or more evaluations. The mean score on first assessment was 22.7 ± 9, and the mean follow-up was 1.84 ± 1.10 years. The mean increase was 1.36 ± 2.3 points/ year; this variation was not significantly linked to factors known to influence disease severity such as age at onset, disease duration, GAA expansion length, and wheelchair use. Conclusions: In adult Friedreich's ataxia patients the Scale for the Assessment and Rating of Ataxia can detect annual changes independently of disease severity. In future therapeutic trials no patient stratification is globally required.</div></front></TEI><affiliations><list><country><li>France</li></country><settlement><li>Paris</li></settlement></list><tree><country name="France"><noRegion><name sortKey="Marelli, Cecilia" sort="Marelli, Cecilia" uniqKey="Marelli C" first="Cecilia" last="Marelli">Cecilia Marelli</name></noRegion><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name><name sortKey="Charles, Perrine" sort="Charles, Perrine" uniqKey="Charles P" first="Perrine" last="Charles">Perrine Charles</name><name sortKey="Du Montcel, Sophie Tezenas" sort="Du Montcel, Sophie Tezenas" uniqKey="Du Montcel S" first="Sophie Tezenas" last="Du Montcel">Sophie Tezenas Du Montcel</name><name sortKey="Du Montcel, Sophie Tezenas" sort="Du Montcel, Sophie Tezenas" uniqKey="Du Montcel S" first="Sophie Tezenas" last="Du Montcel">Sophie Tezenas Du Montcel</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Figoni, Julie" sort="Figoni, Julie" uniqKey="Figoni J" first="Julie" last="Figoni">Julie Figoni</name><name sortKey="Golmard, Jean Louis" sort="Golmard, Jean Louis" uniqKey="Golmard J" first="Jean Louis" last="Golmard">Jean Louis Golmard</name><name sortKey="Golmard, Jean Louis" sort="Golmard, Jean Louis" uniqKey="Golmard J" first="Jean Louis" last="Golmard">Jean Louis Golmard</name><name sortKey="Marelli, Cecilia" sort="Marelli, Cecilia" uniqKey="Marelli C" first="Cecilia" last="Marelli">Cecilia Marelli</name><name sortKey="Marelli, Cecilia" sort="Marelli, Cecilia" uniqKey="Marelli C" first="Cecilia" last="Marelli">Cecilia Marelli</name><name sortKey="Marelli, Cecilia" sort="Marelli, Cecilia" uniqKey="Marelli C" first="Cecilia" last="Marelli">Cecilia Marelli</name><name sortKey="Tchikviladze, Maya" sort="Tchikviladze, Maya" uniqKey="Tchikviladze M" first="Maya" last="Tchikviladze">Maya Tchikviladze</name><name sortKey="Vincitorio, Carlo Maria" sort="Vincitorio, Carlo Maria" uniqKey="Vincitorio C" first="Carlo-Maria" last="Vincitorio">Carlo-Maria Vincitorio</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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