MovDisordV3, PascalFrancis, Corpus, bibRecord, 002776

Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia

Identifieur interne : 002776 ( PascalFrancis/Corpus ); précédent : 002775; suivant : 002777

Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia

Auteurs : Francesco Brancati ; Giovanni Defazio ; Viviana Caputo ; Enza Maria Valente ; Antonio Pizzuti ; Paolo Livrea ; Alfredo Berardelli ; Bruno Dallapiccola

Source :

Movement disorders [ 0885-3185 ] ; 2002.

RBID : Pascal:02-0313044

Descripteurs français

Pascal (Inist)
- Dystonie, Torsion, Primaire, Liaison génétique, Hétérogénéité, Etude familiale, Physiopathologie, Adulte, Italie, Age apparition.

English descriptors

KwdEn :
- Adult, Age of onset, Dystonia, Family study, Heterogeneity, Italy, Linkage, Pathophysiology, Primary, Torsion.

Abstract

We report on an Italian kindred with adult-onset primary torsion dystonia (PTD). A detailed clinical examination of the six definitely affected family members revealed a mild, purely focal phenotype. The disease involved only one body part (eyes, neck, or arm). PTD in this family was not linked to the known disease loci (DYTI, DYT6, DYT7, and DYT13), and the 3-hp deletion in the DYTI gene was also excluded. These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A08	`01`	`1`	`ENG`	`@1 Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia`
A11	`01`	`1`		`@1 BRANCATI (Francesco)`
A11	`02`	`1`		`@1 DEFAZIO (Giovanni)`
A11	`03`	`1`		`@1 CAPUTO (Viviana)`
A11	`04`	`1`		`@1 VALENTE (Enza Maria)`
A11	`05`	`1`		`@1 PIZZUTI (Antonio)`
A11	`06`	`1`		`@1 LIVREA (Paolo)`
A11	`07`	`1`		`@1 BERARDELLI (Alfredo)`
A11	`08`	`1`		`@1 DALLAPICCOLA (Bruno)`
A14	`01`			`@1 Istituto C.S.S. Mendel @2 Rome @3 ITA @Z 1 aut. @Z 3 aut. @Z 4 aut. @Z 5 aut. @Z 8 aut.`
A14	`02`			`@1 Dipartimento di Medicina Sperimentale e Patologia, Università La Sapienza @2 Rome @3 ITA @Z 1 aut. @Z 3 aut. @Z 5 aut. @Z 8 aut.`
A14	`03`			`@1 Dipartimento di Scienze Neurologiche e Psichiatriche, Policlinico, Università di Bari @2 Bari @3 ITA @Z 2 aut. @Z 6 aut.`
A14	`04`			`@1 Department of Clinical Neurology, Institute of Neurology @2 London @3 GBR @Z 4 aut.`
A14	`05`			`@1 Dipartimento di Scienze Neurologiche e Istituto Neuromed, Università La Sapienza @2 Rome @3 ITA @Z 7 aut.`
A20				`@1 392-397`
A21				`@1 2002`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000100907450250`
A44				`@0 0000 @1 © 2002 INIST-CNRS. All rights reserved.`
A45				`@0 20 ref.`
A47	`01`	`1`		`@0 02-0313044`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 We report on an Italian kindred with adult-onset primary torsion dystonia (PTD). A detailed clinical examination of the six definitely affected family members revealed a mild, purely focal phenotype. The disease involved only one body part (eyes, neck, or arm). PTD in this family was not linked to the known disease loci (DYTI, DYT6, DYT7, and DYT13), and the 3-hp deletion in the DYTI gene was also excluded. These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family.
C02	`01`	`X`		`@0 002B17A01`
C03	`01`	`X`	`FRE`	`@0 Dystonie @5 01`
C03	`01`	`X`	`ENG`	`@0 Dystonia @5 01`
C03	`01`	`X`	`SPA`	`@0 Distonía @5 01`
C03	`02`	`X`	`FRE`	`@0 Torsion @5 02`
C03	`02`	`X`	`ENG`	`@0 Torsion @5 02`
C03	`02`	`X`	`SPA`	`@0 Torsión @5 02`
C03	`03`	`X`	`FRE`	`@0 Primaire @5 03`
C03	`03`	`X`	`ENG`	`@0 Primary @5 03`
C03	`03`	`X`	`SPA`	`@0 Primario @5 03`
C03	`04`	`X`	`FRE`	`@0 Liaison génétique @5 04`
C03	`04`	`X`	`ENG`	`@0 Linkage @5 04`
C03	`04`	`X`	`SPA`	`@0 Ligamiento genético @5 04`
C03	`05`	`X`	`FRE`	`@0 Hétérogénéité @5 07`
C03	`05`	`X`	`ENG`	`@0 Heterogeneity @5 07`
C03	`05`	`X`	`SPA`	`@0 Heterogeneidad @5 07`
C03	`06`	`X`	`FRE`	`@0 Etude familiale @5 16`
C03	`06`	`X`	`ENG`	`@0 Family study @5 16`
C03	`06`	`X`	`SPA`	`@0 Estudio familiar @5 16`
C03	`07`	`X`	`FRE`	`@0 Physiopathologie @5 17`
C03	`07`	`X`	`ENG`	`@0 Pathophysiology @5 17`
C03	`07`	`X`	`SPA`	`@0 Fisiopatología @5 17`
C03	`08`	`X`	`FRE`	`@0 Adulte @5 20`
C03	`08`	`X`	`ENG`	`@0 Adult @5 20`
C03	`08`	`X`	`SPA`	`@0 Adulto @5 20`
C03	`09`	`X`	`FRE`	`@0 Italie @2 NG @5 23`
C03	`09`	`X`	`ENG`	`@0 Italy @2 NG @5 23`
C03	`09`	`X`	`SPA`	`@0 Italia @2 NG @5 23`
C03	`10`	`X`	`FRE`	`@0 Age apparition @5 24`
C03	`10`	`X`	`ENG`	`@0 Age of onset @5 24`
C03	`10`	`X`	`SPA`	`@0 Edad aparición @5 24`
C07	`01`	`X`	`FRE`	`@0 Homme`
C07	`01`	`X`	`ENG`	`@0 Human`
C07	`01`	`X`	`SPA`	`@0 Hombre`
C07	`02`	`X`	`FRE`	`@0 Europe @2 NG`
C07	`02`	`X`	`ENG`	`@0 Europe @2 NG`
C07	`02`	`X`	`SPA`	`@0 Europa @2 NG`
C07	`03`	`X`	`FRE`	`@0 Muscle strié pathologie @5 37`
C07	`03`	`X`	`ENG`	`@0 Striated muscle disease @5 37`
C07	`03`	`X`	`SPA`	`@0 Músculo estriado patología @5 37`
C07	`04`	`X`	`FRE`	`@0 Système nerveux pathologie @5 38`
C07	`04`	`X`	`ENG`	`@0 Nervous system diseases @5 38`
C07	`04`	`X`	`SPA`	`@0 Sistema nervioso patología @5 38`
C07	`05`	`X`	`FRE`	`@0 Trouble neurologique @5 39`
C07	`05`	`X`	`ENG`	`@0 Neurological disorder @5 39`
C07	`05`	`X`	`SPA`	`@0 Trastorno neurológico @5 39`
C07	`06`	`X`	`FRE`	`@0 Mouvement involontaire @5 40`
C07	`06`	`X`	`ENG`	`@0 Involuntary movement @5 40`
C07	`06`	`X`	`SPA`	`@0 Movimiento involuntario @5 40`
C07	`07`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 41`
C07	`07`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 41`
C07	`07`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 41`
C07	`08`	`X`	`FRE`	`@0 Génétique @5 45`
C07	`08`	`X`	`ENG`	`@0 Genetics @5 45`
C07	`08`	`X`	`SPA`	`@0 Genética @5 45`
N21				`@1 175`
N82				`@1 PSI`

Format Inist (serveur)

NO :	PASCAL 02-0313044 INIST
ET :	Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia
AU :	BRANCATI (Francesco); DEFAZIO (Giovanni); CAPUTO (Viviana); VALENTE (Enza Maria); PIZZUTI (Antonio); LIVREA (Paolo); BERARDELLI (Alfredo); DALLAPICCOLA (Bruno)
AF :	Istituto C.S.S. Mendel/Rome/Italie (1 aut., 3 aut., 4 aut., 5 aut., 8 aut.); Dipartimento di Medicina Sperimentale e Patologia, Università La Sapienza/Rome/Italie (1 aut., 3 aut., 5 aut., 8 aut.); Dipartimento di Scienze Neurologiche e Psichiatriche, Policlinico, Università di Bari/Bari/Italie (2 aut., 6 aut.); Department of Clinical Neurology, Institute of Neurology/London/Royaume-Uni (4 aut.); Dipartimento di Scienze Neurologiche e Istituto Neuromed, Università La Sapienza/Rome/Italie (7 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2002; Vol. 17; No. 2; Pp. 392-397; Bibl. 20 ref.
LA :	Anglais
EA :	We report on an Italian kindred with adult-onset primary torsion dystonia (PTD). A detailed clinical examination of the six definitely affected family members revealed a mild, purely focal phenotype. The disease involved only one body part (eyes, neck, or arm). PTD in this family was not linked to the known disease loci (DYTI, DYT6, DYT7, and DYT13), and the 3-hp deletion in the DYTI gene was also excluded. These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family.
CC :	002B17A01
FD :	Dystonie; Torsion; Primaire; Liaison génétique; Hétérogénéité; Etude familiale; Physiopathologie; Adulte; Italie; Age apparition
FG :	Homme; Europe; Muscle strié pathologie; Système nerveux pathologie; Trouble neurologique; Mouvement involontaire; Extrapyramidal syndrome; Génétique
ED :	Dystonia; Torsion; Primary; Linkage; Heterogeneity; Family study; Pathophysiology; Adult; Italy; Age of onset
EG :	Human; Europe; Striated muscle disease; Nervous system diseases; Neurological disorder; Involuntary movement; Extrapyramidal syndrome; Genetics
SD :	Distonía; Torsión; Primario; Ligamiento genético; Heterogeneidad; Estudio familiar; Fisiopatología; Adulto; Italia; Edad aparición
LO :	INIST-20953.354000100907450250
ID :	02-0313044

Links to Exploration step

Pascal:02-0313044

Le document en format XML

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<author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia</title>
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<author><name sortKey="Defazio, Giovanni" sort="Defazio, Giovanni" uniqKey="Defazio G" first="Giovanni" last="Defazio">Giovanni Defazio</name>
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<author><name sortKey="Caputo, Viviana" sort="Caputo, Viviana" uniqKey="Caputo V" first="Viviana" last="Caputo">Viviana Caputo</name>
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<author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
<affiliation><inist:fA14 i1="01"><s1>Istituto C.S.S. Mendel</s1>
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<affiliation><inist:fA14 i1="04"><s1>Department of Clinical Neurology, Institute of Neurology</s1>
<s2>London</s2>
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</inist:fA14>
</affiliation>
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<author><name sortKey="Pizzuti, Antonio" sort="Pizzuti, Antonio" uniqKey="Pizzuti A" first="Antonio" last="Pizzuti">Antonio Pizzuti</name>
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<affiliation><inist:fA14 i1="02"><s1>Dipartimento di Medicina Sperimentale e Patologia, Università La Sapienza</s1>
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<author><name sortKey="Livrea, Paolo" sort="Livrea, Paolo" uniqKey="Livrea P" first="Paolo" last="Livrea">Paolo Livrea</name>
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<author><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name>
<affiliation><inist:fA14 i1="05"><s1>Dipartimento di Scienze Neurologiche e Istituto Neuromed, Università La Sapienza</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>7 aut.</sZ>
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</affiliation>
</author>
<author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name>
<affiliation><inist:fA14 i1="01"><s1>Istituto C.S.S. Mendel</s1>
<s2>Rome</s2>
<s3>ITA</s3>
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<affiliation><inist:fA14 i1="02"><s1>Dipartimento di Medicina Sperimentale e Patologia, Università La Sapienza</s1>
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<series><title level="j" type="main">Movement disorders</title>
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<term>Heterogeneity</term>
<term>Italy</term>
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<front><div type="abstract" xml:lang="en">We report on an Italian kindred with adult-onset primary torsion dystonia (PTD). A detailed clinical examination of the six definitely affected family members revealed a mild, purely focal phenotype. The disease involved only one body part (eyes, neck, or arm). PTD in this family was not linked to the known disease loci (DYTI, DYT6, DYT7, and DYT13), and the 3-hp deletion in the DYTI gene was also excluded. These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family.</div>
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<ET>Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia</ET>
<AU>BRANCATI (Francesco); DEFAZIO (Giovanni); CAPUTO (Viviana); VALENTE (Enza Maria); PIZZUTI (Antonio); LIVREA (Paolo); BERARDELLI (Alfredo); DALLAPICCOLA (Bruno)</AU>
<AF>Istituto C.S.S. Mendel/Rome/Italie (1 aut., 3 aut., 4 aut., 5 aut., 8 aut.); Dipartimento di Medicina Sperimentale e Patologia, Università La Sapienza/Rome/Italie (1 aut., 3 aut., 5 aut., 8 aut.); Dipartimento di Scienze Neurologiche e Psichiatriche, Policlinico, Università di Bari/Bari/Italie (2 aut., 6 aut.); Department of Clinical Neurology, Institute of Neurology/London/Royaume-Uni (4 aut.); Dipartimento di Scienze Neurologiche e Istituto Neuromed, Università La Sapienza/Rome/Italie (7 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2002; Vol. 17; No. 2; Pp. 392-397; Bibl. 20 ref.</SO>
<LA>Anglais</LA>
<EA>We report on an Italian kindred with adult-onset primary torsion dystonia (PTD). A detailed clinical examination of the six definitely affected family members revealed a mild, purely focal phenotype. The disease involved only one body part (eyes, neck, or arm). PTD in this family was not linked to the known disease loci (DYTI, DYT6, DYT7, and DYT13), and the 3-hp deletion in the DYTI gene was also excluded. These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family.</EA>
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<ED>Dystonia; Torsion; Primary; Linkage; Heterogeneity; Family study; Pathophysiology; Adult; Italy; Age of onset</ED>
<EG>Human; Europe; Striated muscle disease; Nervous system diseases; Neurological disorder; Involuntary movement; Extrapyramidal syndrome; Genetics</EG>
<SD>Distonía; Torsión; Primario; Ligamiento genético; Heterogeneidad; Estudio familiar; Fisiopatología; Adulto; Italia; Edad aparición</SD>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia

Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia

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