MovDisordV3, PascalFrancis, Corpus, bibRecord, 001930

Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia

Identifieur interne : 001930 ( PascalFrancis/Corpus ); précédent : 001929; suivant : 001931

Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia

Auteurs : Mattia Gambarin ; Enza Maria Valente ; Paolo Liberini ; Giuseppe Barrano ; Alberto Bonizzato ; Alessandro Padovani ; Giuseppe Moretto ; Mirta Fiorio ; Bruno Dallapiccola ; Nicola Smania ; Antonio Fiaschi ; Michele Tinazzi

Source :

Movement disorders [ 0885-3185 ] ; 2006.

RBID : Pascal:06-0538612

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Dystonie, Phénotype, Variabilité, Italien, Torsion, Pénétrance génique.

English descriptors

KwdEn :
- Dystonia, Gene penetrance, Italian, Nervous system diseases, Phenotype, Torsion, Variability.

Abstract

The GAG deletion in the DYT1 gene usually causes a typical form of primary torsion dystonia (PTD) with early onset in a limb, rapid generalization, and sparing of cranial-cervical muscles, but atypical phenotypes have often been reported. Here, we describe a large DYT1 Italian family with phenotypically heterogeneous PTD that recapitulates all the atypical features associated with the DYT1 mutation, including late age at onset, focal or segmental phenotypes, onset or spreading of dystonia to the cranial-cervical muscles. Of 38 healthy family members, 15 also carried the DYT1 mutation, with an estimated penetrance of 21%. A literature review of atypical familial cases of DYT1-PTD showed that late onset, cervical involvement, and limited progression of dystonia are features frequently seen in DYT1 families. However, nearly all of these atypical patients fall within at least one of the clinical categories that best predict the DYT1 carrier status, namely, early onset, onset in a limb, and family history positive for early-onset dystonia.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A08	`01`	`1`	`ENG`	`@1 Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia`
A11	`01`	`1`		`@1 GAMBARIN (Mattia)`
A11	`02`	`1`		`@1 VALENTE (Enza Maria)`
A11	`03`	`1`		`@1 LIBERINI (Paolo)`
A11	`04`	`1`		`@1 BARRANO (Giuseppe)`
A11	`05`	`1`		`@1 BONIZZATO (Alberto)`
A11	`06`	`1`		`@1 PADOVANI (Alessandro)`
A11	`07`	`1`		`@1 MORETTO (Giuseppe)`
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A11	`09`	`1`		`@1 DALLAPICCOLA (Bruno)`
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A11	`12`	`1`		`@1 TINAZZI (Michele)`
A14	`01`			`@1 Department of Neurological and Visual Sciences, Neurological section, University of Verona @3 ITA @Z 1 aut. @Z 8 aut. @Z 10 aut. @Z 11 aut. @Z 12 aut.`
A14	`02`			`@1 Operative Unit of Neurology, Borgo Trento Hospital @2 Verona @3 ITA @Z 1 aut. @Z 5 aut. @Z 7 aut. @Z 12 aut.`
A14	`03`			`@1 IRCCS CSS, Mendel Institute @2 Rome @3 ITA @Z 2 aut. @Z 4 aut. @Z 9 aut.`
A14	`04`			`@1 Neurological Clinic @2 Brescia @3 ITA @Z 3 aut. @Z 6 aut.`
A14	`05`			`@1 Department of Experimental Medicine and Pathology, University La Sapienza @2 Rome @3 ITA @Z 4 aut. @Z 9 aut.`
A20				`@1 1782-1784`
A21				`@1 2006`
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A43	`01`			`@1 INIST @2 20953 @5 354000158877800420`
A44				`@0 0000 @1 © 2006 INIST-CNRS. All rights reserved.`
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C01	`01`		`ENG`	@0 The GAG deletion in the DYT1 gene usually causes a typical form of primary torsion dystonia (PTD) with early onset in a limb, rapid generalization, and sparing of cranial-cervical muscles, but atypical phenotypes have often been reported. Here, we describe a large DYT1 Italian family with phenotypically heterogeneous PTD that recapitulates all the atypical features associated with the DYT1 mutation, including late age at onset, focal or segmental phenotypes, onset or spreading of dystonia to the cranial-cervical muscles. Of 38 healthy family members, 15 also carried the DYT1 mutation, with an estimated penetrance of 21%. A literature review of atypical familial cases of DYT1-PTD showed that late onset, cervical involvement, and limited progression of dystonia are features frequently seen in DYT1 families. However, nearly all of these atypical patients fall within at least one of the clinical categories that best predict the DYT1 carrier status, namely, early onset, onset in a limb, and family history positive for early-onset dystonia.
C02	`01`	`X`		`@0 002B17`
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C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Dystonie @5 02`
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C03	`02`	`X`	`SPA`	`@0 Distonía @5 02`
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C03	`06`	`X`	`FRE`	`@0 Torsion @5 12`
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C03	`07`	`X`	`FRE`	`@0 Pénétrance génique @5 13`
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C07	`01`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 37`
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C07	`01`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 37`
C07	`02`	`X`	`FRE`	`@0 Mouvement involontaire @5 38`
C07	`02`	`X`	`ENG`	`@0 Involuntary movement @5 38`
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C07	`03`	`X`	`FRE`	`@0 Muscle strié pathologie @5 39`
C07	`03`	`X`	`ENG`	`@0 Striated muscle disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Músculo estriado patología @5 39`
C07	`04`	`X`	`FRE`	`@0 Trouble neurologique @5 40`
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C07	`05`	`X`	`ENG`	`@0 Cerebral disorder @5 41`
C07	`05`	`X`	`SPA`	`@0 Encéfalo patología @5 41`
C07	`06`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 42`
C07	`06`	`X`	`ENG`	`@0 Central nervous system disease @5 42`
C07	`06`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 42`
N21				`@1 353`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 06-0538612 INIST
ET :	Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia
AU :	GAMBARIN (Mattia); VALENTE (Enza Maria); LIBERINI (Paolo); BARRANO (Giuseppe); BONIZZATO (Alberto); PADOVANI (Alessandro); MORETTO (Giuseppe); FIORIO (Mirta); DALLAPICCOLA (Bruno); SMANIA (Nicola); FIASCHI (Antonio); TINAZZI (Michele)
AF :	Department of Neurological and Visual Sciences, Neurological section, University of Verona/Italie (1 aut., 8 aut., 10 aut., 11 aut., 12 aut.); Operative Unit of Neurology, Borgo Trento Hospital/Verona/Italie (1 aut., 5 aut., 7 aut., 12 aut.); IRCCS CSS, Mendel Institute/Rome/Italie (2 aut., 4 aut., 9 aut.); Neurological Clinic/Brescia/Italie (3 aut., 6 aut.); Department of Experimental Medicine and Pathology, University La Sapienza/Rome/Italie (4 aut., 9 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 10; Pp. 1782-1784; Bibl. 13 ref.
LA :	Anglais
EA :	The GAG deletion in the DYT1 gene usually causes a typical form of primary torsion dystonia (PTD) with early onset in a limb, rapid generalization, and sparing of cranial-cervical muscles, but atypical phenotypes have often been reported. Here, we describe a large DYT1 Italian family with phenotypically heterogeneous PTD that recapitulates all the atypical features associated with the DYT1 mutation, including late age at onset, focal or segmental phenotypes, onset or spreading of dystonia to the cranial-cervical muscles. Of 38 healthy family members, 15 also carried the DYT1 mutation, with an estimated penetrance of 21%. A literature review of atypical familial cases of DYT1-PTD showed that late onset, cervical involvement, and limited progression of dystonia are features frequently seen in DYT1 families. However, nearly all of these atypical patients fall within at least one of the clinical categories that best predict the DYT1 carrier status, namely, early onset, onset in a limb, and family history positive for early-onset dystonia.
CC :	002B17; 002B17H; 002B17G
FD :	Système nerveux pathologie; Dystonie; Phénotype; Variabilité; Italien; Torsion; Pénétrance génique
FG :	Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Encéphale pathologie; Système nerveux central pathologie
ED :	Nervous system diseases; Dystonia; Phenotype; Variability; Italian; Torsion; Gene penetrance
EG :	Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease
SD :	Sistema nervioso patología; Distonía; Fenotipo; Variabilidad; Italiano; Torsión; Penetrancia génica
LO :	INIST-20953.354000158877800420
ID :	06-0538612

Links to Exploration step

Pascal:06-0538612

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia</title>
<author><name sortKey="Gambarin, Mattia" sort="Gambarin, Mattia" uniqKey="Gambarin M" first="Mattia" last="Gambarin">Mattia Gambarin</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>
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<author><name sortKey="Liberini, Paolo" sort="Liberini, Paolo" uniqKey="Liberini P" first="Paolo" last="Liberini">Paolo Liberini</name>
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<author><name sortKey="Barrano, Giuseppe" sort="Barrano, Giuseppe" uniqKey="Barrano G" first="Giuseppe" last="Barrano">Giuseppe Barrano</name>
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<affiliation><inist:fA14 i1="05"><s1>Department of Experimental Medicine and Pathology, University La Sapienza</s1>
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<author><name sortKey="Bonizzato, Alberto" sort="Bonizzato, Alberto" uniqKey="Bonizzato A" first="Alberto" last="Bonizzato">Alberto Bonizzato</name>
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<author><name sortKey="Padovani, Alessandro" sort="Padovani, Alessandro" uniqKey="Padovani A" first="Alessandro" last="Padovani">Alessandro Padovani</name>
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<author><name sortKey="Moretto, Giuseppe" sort="Moretto, Giuseppe" uniqKey="Moretto G" first="Giuseppe" last="Moretto">Giuseppe Moretto</name>
<affiliation><inist:fA14 i1="02"><s1>Operative Unit of Neurology, Borgo Trento Hospital</s1>
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<s3>ITA</s3>
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<author><name sortKey="Fiorio, Mirta" sort="Fiorio, Mirta" uniqKey="Fiorio M" first="Mirta" last="Fiorio">Mirta Fiorio</name>
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<front><div type="abstract" xml:lang="en">The GAG deletion in the DYT1 gene usually causes a typical form of primary torsion dystonia (PTD) with early onset in a limb, rapid generalization, and sparing of cranial-cervical muscles, but atypical phenotypes have often been reported. Here, we describe a large DYT1 Italian family with phenotypically heterogeneous PTD that recapitulates all the atypical features associated with the DYT1 mutation, including late age at onset, focal or segmental phenotypes, onset or spreading of dystonia to the cranial-cervical muscles. Of 38 healthy family members, 15 also carried the DYT1 mutation, with an estimated penetrance of 21%. A literature review of atypical familial cases of DYT1-PTD showed that late onset, cervical involvement, and limited progression of dystonia are features frequently seen in DYT1 families. However, nearly all of these atypical patients fall within at least one of the clinical categories that best predict the DYT1 carrier status, namely, early onset, onset in a limb, and family history positive for early-onset dystonia.</div>
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<ET>Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia</ET>
<AU>GAMBARIN (Mattia); VALENTE (Enza Maria); LIBERINI (Paolo); BARRANO (Giuseppe); BONIZZATO (Alberto); PADOVANI (Alessandro); MORETTO (Giuseppe); FIORIO (Mirta); DALLAPICCOLA (Bruno); SMANIA (Nicola); FIASCHI (Antonio); TINAZZI (Michele)</AU>
<AF>Department of Neurological and Visual Sciences, Neurological section, University of Verona/Italie (1 aut., 8 aut., 10 aut., 11 aut., 12 aut.); Operative Unit of Neurology, Borgo Trento Hospital/Verona/Italie (1 aut., 5 aut., 7 aut., 12 aut.); IRCCS CSS, Mendel Institute/Rome/Italie (2 aut., 4 aut., 9 aut.); Neurological Clinic/Brescia/Italie (3 aut., 6 aut.); Department of Experimental Medicine and Pathology, University La Sapienza/Rome/Italie (4 aut., 9 aut.)</AF>
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<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 10; Pp. 1782-1784; Bibl. 13 ref.</SO>
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<EA>The GAG deletion in the DYT1 gene usually causes a typical form of primary torsion dystonia (PTD) with early onset in a limb, rapid generalization, and sparing of cranial-cervical muscles, but atypical phenotypes have often been reported. Here, we describe a large DYT1 Italian family with phenotypically heterogeneous PTD that recapitulates all the atypical features associated with the DYT1 mutation, including late age at onset, focal or segmental phenotypes, onset or spreading of dystonia to the cranial-cervical muscles. Of 38 healthy family members, 15 also carried the DYT1 mutation, with an estimated penetrance of 21%. A literature review of atypical familial cases of DYT1-PTD showed that late onset, cervical involvement, and limited progression of dystonia are features frequently seen in DYT1 families. However, nearly all of these atypical patients fall within at least one of the clinical categories that best predict the DYT1 carrier status, namely, early onset, onset in a limb, and family history positive for early-onset dystonia.</EA>
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<ED>Nervous system diseases; Dystonia; Phenotype; Variability; Italian; Torsion; Gene penetrance</ED>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia

Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia

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