MovDisordV3, PascalFrancis, Corpus, bibRecord, 002B15

Accuracy of clinical diagnostic criteria for Friedreich's Ataxia

Identifieur interne : 002B15 ( PascalFrancis/Corpus ); précédent : 002B14; suivant : 002B16

Accuracy of clinical diagnostic criteria for Friedreich's Ataxia

Auteurs : A. Filla ; G. De Michele ; G. Coppola ; A. Federico ; G. Vita ; A. Toscano ; A. Uncini ; P. Pisanelli ; P. Barone ; V. Scarano ; A. Perretti ; L. Santoro ; A. Monticelli ; F. Cavalcanti ; G. Caruso ; S. Cocozza

Source :

Movement disorders [ 0885-3185 ] ; 2000.

RBID : Pascal:01-0016444

Descripteurs français

Pascal (Inist)
- Hérédodégénérescence spinocérébelleuse Friedreich, Critère, Sensibilité, Spécificité, Valeur prédictive, Diagnostic, Méthode, Etude comparative, Homme.

English descriptors

KwdEn :
- Comparative study, Criterion, Diagnosis, Friedreich ataxia, Human, Method, Predictive value, Sensitivity, Specificity.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A14	`01`			`@1 Department of Neurological Sciences, Federico II University @2 Naples @3 ITA @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 8 aut. @Z 9 aut. @Z 10 aut. @Z 11 aut. @Z 12 aut. @Z 15 aut.`
A14	`02`			`@1 Department of Neurological Sciences, University of Siena @3 ITA @Z 4 aut.`
A14	`03`			`@1 Department of Neurological Sciences, University of Messina @3 ITA @Z 5 aut. @Z 6 aut.`
A14	`04`			`@1 Department of Neurological Sciences, University of Chieti @3 ITA @Z 7 aut.`
A14	`05`			`@1 Department of Molecular and Cellular Biology and Pathology and CEOS, Federico II University @2 Naples @3 ITA @Z 13 aut. @Z 16 aut.`
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C01	`01`		`ENG`	@0 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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Format Inist (serveur)

NO :	PASCAL 01-0016444 INIST
ET :	Accuracy of clinical diagnostic criteria for Friedreich's Ataxia
AU :	FILLA (A.); DE MICHELE (G.); COPPOLA (G.); FEDERICO (A.); VITA (G.); TOSCANO (A.); UNCINI (A.); PISANELLI (P.); BARONE (P.); SCARANO (V.); PERRETTI (A.); SANTORO (L.); MONTICELLI (A.); CAVALCANTI (F.); CARUSO (G.); COCOZZA (S.)
AF :	Department of Neurological Sciences, Federico II University/Naples/Italie (1 aut., 2 aut., 3 aut., 8 aut., 9 aut., 10 aut., 11 aut., 12 aut., 15 aut.); Department of Neurological Sciences, University of Siena/Italie (4 aut.); Department of Neurological Sciences, University of Messina/Italie (5 aut., 6 aut.); Department of Neurological Sciences, University of Chieti/Italie (7 aut.); Department of Molecular and Cellular Biology and Pathology and CEOS, Federico II University/Naples/Italie (13 aut., 16 aut.); Institute of Experimental Medicine and Biotechnology, CNR/Cosenza/Italie (14 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2000; Vol. 15; No. 6; Pp. 1255-1258; Bibl. 15 ref.
LA :	Anglais
EA :	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.
CC :	002B17G
FD :	Hérédodégénérescence spinocérébelleuse Friedreich; Critère; Sensibilité; Spécificité; Valeur prédictive; Diagnostic; Méthode; Etude comparative; Homme
FG :	Système nerveux pathologie; Système nerveux central pathologie; Encéphale pathologie; Moelle épinière pathologie; Maladie dégénérative; Maladie héréditaire
ED :	Friedreich ataxia; Criterion; Sensitivity; Specificity; Predictive value; Diagnosis; Method; Comparative study; Human
EG :	Nervous system diseases; Central nervous system disease; Cerebral disorder; Spinal cord disease; Degenerative disease; Genetic disease
SD :	Heredodegeneración espinocerebelosa Friedreich; Criterio; Sensibilidad; Especificidad; Valor predictivo; Diagnóstico; Método; Estudio comparativo; Hombre
LO :	INIST-20953.354000092814950310
ID :	01-0016444

Links to Exploration step

Pascal:01-0016444

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Accuracy of clinical diagnostic criteria for Friedreich's Ataxia</title>
<author><name sortKey="Filla, A" sort="Filla, A" uniqKey="Filla A" first="A." last="Filla">A. Filla</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurological Sciences, Federico II University</s1>
<s2>Naples</s2>
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<author><name sortKey="De Michele, G" sort="De Michele, G" uniqKey="De Michele G" first="G." last="De Michele">G. De Michele</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurological Sciences, Federico II University</s1>
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<sZ>1 aut.</sZ>
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<sZ>1 aut.</sZ>
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<sZ>1 aut.</sZ>
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<sZ>13 aut.</sZ>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Comparative study</term>
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<term>Friedreich ataxia</term>
<term>Human</term>
<term>Method</term>
<term>Predictive value</term>
<term>Sensitivity</term>
<term>Specificity</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Hérédodégénérescence spinocérébelleuse Friedreich</term>
<term>Critère</term>
<term>Sensibilité</term>
<term>Spécificité</term>
<term>Valeur prédictive</term>
<term>Diagnostic</term>
<term>Méthode</term>
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<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>
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<server><NO>PASCAL 01-0016444 INIST</NO>
<ET>Accuracy of clinical diagnostic criteria for Friedreich's Ataxia</ET>
<AU>FILLA (A.); DE MICHELE (G.); COPPOLA (G.); FEDERICO (A.); VITA (G.); TOSCANO (A.); UNCINI (A.); PISANELLI (P.); BARONE (P.); SCARANO (V.); PERRETTI (A.); SANTORO (L.); MONTICELLI (A.); CAVALCANTI (F.); CARUSO (G.); COCOZZA (S.)</AU>
<AF>Department of Neurological Sciences, Federico II University/Naples/Italie (1 aut., 2 aut., 3 aut., 8 aut., 9 aut., 10 aut., 11 aut., 12 aut., 15 aut.); Department of Neurological Sciences, University of Siena/Italie (4 aut.); Department of Neurological Sciences, University of Messina/Italie (5 aut., 6 aut.); Department of Neurological Sciences, University of Chieti/Italie (7 aut.); Department of Molecular and Cellular Biology and Pathology and CEOS, Federico II University/Naples/Italie (13 aut., 16 aut.); Institute of Experimental Medicine and Biotechnology, CNR/Cosenza/Italie (14 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2000; Vol. 15; No. 6; Pp. 1255-1258; Bibl. 15 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17G</CC>
<FD>Hérédodégénérescence spinocérébelleuse Friedreich; Critère; Sensibilité; Spécificité; Valeur prédictive; Diagnostic; Méthode; Etude comparative; Homme</FD>
<FG>Système nerveux pathologie; Système nerveux central pathologie; Encéphale pathologie; Moelle épinière pathologie; Maladie dégénérative; Maladie héréditaire</FG>
<ED>Friedreich ataxia; Criterion; Sensitivity; Specificity; Predictive value; Diagnosis; Method; Comparative study; Human</ED>
<EG>Nervous system diseases; Central nervous system disease; Cerebral disorder; Spinal cord disease; Degenerative disease; Genetic disease</EG>
<SD>Heredodegeneración espinocerebelosa Friedreich; Criterio; Sensibilidad; Especificidad; Valor predictivo; Diagnóstico; Método; Estudio comparativo; Hombre</SD>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Accuracy of clinical diagnostic criteria for Friedreich's Ataxia

Accuracy of clinical diagnostic criteria for Friedreich's Ataxia

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