Accuracy of clinical diagnostic criteria for Friedreich's ataxia
Identifieur interne : 002F35 ( Istex/Curation ); précédent : 002F34; suivant : 002F36Accuracy of clinical diagnostic criteria for Friedreich's ataxia
Auteurs : A. Filla [Italie] ; G. De Michele [Italie] ; G. Coppola [Italie] ; A. Federico [Italie] ; G. Vita [Italie] ; A. Toscano [Italie] ; A. Uncini [Italie] ; P. Pisanelli [Italie] ; P. Barone [Italie] ; V. Scarano [Italie] ; A. Perretti [Italie] ; L. Santoro [Italie] ; A. Monticelli [Italie] ; F. Cavalcanti [Italie] ; G. Caruso [Italie] ; S. Cocozza [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2000-11.
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Abstract
The accuracy of the diagnostic criteria for Friedreich's ataxia proposed by Harding and by the Quebec Cooperative Study on Friedreich's Ataxia was studied in 142 patients with progressive unremitting ataxia of autosomal recessive inheritance or sporadic occurrence. Eighty‐eight patients received the molecular diagnosis of Friedreich's ataxia. Traditional diagnostic criteria are characterized by high specificity, but they yield a high number of false‐negative diagnoses. We suggest three levels of diagnostic certainty: (1) possible Friedreich's ataxia, defined as sporadic or recessive progressive ataxia with (a) lower limb areflexia and dysarthria, Babinski sign, or electrocardiographic repolarization abnormalities, or (b) with lower limb retained reflexes and electrocardiographic repolarization abnormalities (95% sensitivity and 88% positive predictive value); (2) probable Friedreich's ataxia as defined by Harding's criteria (63% sensitivity and 96% positive predictive value) or by Quebec Cooperative Study on Friedreich's Ataxia criteria (63% sensitivity and 98% positive predictive value); (3) definite diagnosis, molecularly confirmed.
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DOI: 10.1002/1531-8257(200011)15:6<1255::AID-MDS1031>3.0.CO;2-C
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Filla</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurological Sciences, Federico II University, Naples, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, Federico II University, Naples</wicri:regionArea></affiliation></author><author><name sortKey="De Michele, G" sort="De Michele, G" uniqKey="De Michele G" first="G." last="De Michele">G. De Michele</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurological Sciences, Federico II University, Naples, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, Federico II University, Naples</wicri:regionArea></affiliation></author><author><name sortKey="Coppola, G" sort="Coppola, G" uniqKey="Coppola G" first="G." last="Coppola">G. Coppola</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurological Sciences, Federico II University, Naples, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, Federico II University, Naples</wicri:regionArea></affiliation></author><author><name sortKey="Federico, A" sort="Federico, A" uniqKey="Federico A" first="A." last="Federico">A. Federico</name><affiliation wicri:level="1"><mods:affiliation>Departments of Neurological Sciences, University of Siena, Messina, Chieti, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Departments of Neurological Sciences, University of Siena, Messina, Chieti</wicri:regionArea></affiliation></author><author><name sortKey="Vita, G" sort="Vita, G" uniqKey="Vita G" first="G." last="Vita">G. Vita</name><affiliation wicri:level="1"><mods:affiliation>Departments of Neurological Sciences, University of Messina, Chieti, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Departments of Neurological Sciences, University of Messina, Chieti</wicri:regionArea></affiliation></author><author><name sortKey="Toscano, A" sort="Toscano, A" uniqKey="Toscano A" first="A." last="Toscano">A. Toscano</name><affiliation wicri:level="1"><mods:affiliation>Departments of Neurological Sciences, University of Messina, Chieti, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Departments of Neurological Sciences, University of Messina, Chieti</wicri:regionArea></affiliation></author><author><name sortKey="Uncini, A" sort="Uncini, A" uniqKey="Uncini A" first="A." last="Uncini">A. Uncini</name><affiliation wicri:level="1"><mods:affiliation>Departments of Neurological Sciences, University of Chieti, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Departments of Neurological Sciences, University of Chieti</wicri:regionArea></affiliation></author><author><name sortKey="Pisanelli, P" sort="Pisanelli, P" uniqKey="Pisanelli P" first="P." last="Pisanelli">P. Pisanelli</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurological Sciences, Federico II University, Naples, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, Federico II University, Naples</wicri:regionArea></affiliation></author><author><name sortKey="Barone, P" sort="Barone, P" uniqKey="Barone P" first="P." last="Barone">P. Barone</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurological Sciences, Federico II University, Naples, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, Federico II University, Naples</wicri:regionArea></affiliation></author><author><name sortKey="Scarano, V" sort="Scarano, V" uniqKey="Scarano V" first="V." last="Scarano">V. Scarano</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurological Sciences, Federico II University, Naples, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, Federico II University, Naples</wicri:regionArea></affiliation></author><author><name sortKey="Perretti, A" sort="Perretti, A" uniqKey="Perretti A" first="A." last="Perretti">A. Perretti</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurological Sciences, Federico II University, Naples, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, Federico II University, Naples</wicri:regionArea></affiliation></author><author><name sortKey="Santoro, L" sort="Santoro, L" uniqKey="Santoro L" first="L." last="Santoro">L. Santoro</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurological Sciences, Federico II University, Naples, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, Federico II University, Naples</wicri:regionArea></affiliation></author><author><name sortKey="Monticelli, A" sort="Monticelli, A" uniqKey="Monticelli A" first="A." last="Monticelli">A. Monticelli</name><affiliation wicri:level="1"><mods:affiliation>Departments of Molecular and Cellular Biology and Pathology and CEOS, Federico II University, Naples, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Departments of Molecular and Cellular Biology and Pathology and CEOS, Federico II University, Naples</wicri:regionArea></affiliation></author><author><name sortKey="Cavalcanti, F" sort="Cavalcanti, F" uniqKey="Cavalcanti F" first="F." last="Cavalcanti">F. Cavalcanti</name><affiliation wicri:level="1"><mods:affiliation>Institute of Experimental Medicine and Biotechnology, CNR, Cosenza, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Experimental Medicine and Biotechnology, CNR, Cosenza</wicri:regionArea></affiliation></author><author><name sortKey="Caruso, G" sort="Caruso, G" uniqKey="Caruso G" first="G." last="Caruso">G. Caruso</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurological Sciences, Federico II University, Naples, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, Federico II University, Naples</wicri:regionArea></affiliation></author><author><name sortKey="Cocozza, S" sort="Cocozza, S" uniqKey="Cocozza S" first="S." last="Cocozza">S. Cocozza</name><affiliation wicri:level="1"><mods:affiliation>Departments of Molecular and Cellular Biology and Pathology and CEOS, Federico II University, Naples, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Departments of Molecular and Cellular Biology and Pathology and CEOS, Federico II University, Naples</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><date type="published" when="2000-11">2000-11</date><biblScope unit="vol">15</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="1255">1255</biblScope><biblScope unit="page" to="1258">1258</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">78A6CF3AFE9E4351C78D64A2058DEF93A9BC0DF5</idno><idno type="DOI">10.1002/1531-8257(200011)15:6<1255::AID-MDS1031>3.0.CO;2-C</idno><idno type="ArticleID">MDS1031</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Accuracy</term><term>Diagnostic criteria</term><term>Friedreich's ataxia</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The accuracy of the diagnostic criteria for Friedreich's ataxia proposed by Harding and by the Quebec Cooperative Study on Friedreich's Ataxia was studied in 142 patients with progressive unremitting ataxia of autosomal recessive inheritance or sporadic occurrence. Eighty‐eight patients received the molecular diagnosis of Friedreich's ataxia. Traditional diagnostic criteria are characterized by high specificity, but they yield a high number of false‐negative diagnoses. We suggest three levels of diagnostic certainty: (1) possible Friedreich's ataxia, defined as sporadic or recessive progressive ataxia with (a) lower limb areflexia and dysarthria, Babinski sign, or electrocardiographic repolarization abnormalities, or (b) with lower limb retained reflexes and electrocardiographic repolarization abnormalities (95% sensitivity and 88% positive predictive value); (2) probable Friedreich's ataxia as defined by Harding's criteria (63% sensitivity and 96% positive predictive value) or by Quebec Cooperative Study on Friedreich's Ataxia criteria (63% sensitivity and 98% positive predictive value); (3) definite diagnosis, molecularly confirmed.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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