MovDisordV3, PascalFrancis, Corpus, bibRecord, 002156

Focal dystonia as a presenting sign of spinocerebellar ataxia 17

Identifieur interne : 002156 ( PascalFrancis/Corpus ); précédent : 002155; suivant : 002157

Focal dystonia as a presenting sign of spinocerebellar ataxia 17

Auteurs : Johann M. Hagenah ; Christine Zühlke ; Yorck Hellenbroich ; Wolfgang Heide ; Christine Klein

Source :

Movement disorders [ 0885-3185 ] ; 2004.

RBID : Pascal:04-0366910

Descripteurs français

Pascal (Inist)
- Dystonie, Ataxie spinocérébelleuse, Système nerveux pathologie.

English descriptors

KwdEn :
- Dystonia, Nervous system diseases, Spinocerebellar ataxia.

Abstract

We report on the clinical manifestation of spinocerebellar ataxia 17 (SCA17) in 3 members of a German family, in whom the pathological repeat expansion in the TATA-binding protein gene ranged from 53 to 55 repeats (normal: 29-42). The main clinical features were focal dystonia as presenting sign, followed by cerebellar ataxia, and, in the later course of one case, dementia and marked spasticity with signs of cerebellar and cerebral atrophy on brain computed tomography (CT) scan. In conclusion, SCA17 mutations should be considered in the differential diagnosis of focal dystonia.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

A01	`01`	`1`		`@0 0885-3185`
A03		`1`		`@0 Mov. disord.`
A05				`@2 19`
A06				`@2 2`
A08	`01`	`1`	`ENG`	`@1 Focal dystonia as a presenting sign of spinocerebellar ataxia 17`
A11	`01`	`1`		`@1 HAGENAH (Johann M.)`
A11	`02`	`1`		`@1 ZÜHLKE (Christine)`
A11	`03`	`1`		`@1 HELLENBROICH (Yorck)`
A11	`04`	`1`		`@1 HEIDE (Wolfgang)`
A11	`05`	`1`		`@1 KLEIN (Christine)`
A14	`01`			`@1 Department of Neurology, University of Lübeck @2 Lübeck @3 DEU @Z 1 aut. @Z 4 aut. @Z 5 aut.`
A14	`02`			`@1 Department of Human Genetics, University of Lübeck @2 Lübeck @3 DEU @Z 2 aut. @Z 3 aut. @Z 5 aut.`
A20				`@1 217-220`
A21				`@1 2004`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000119281330140`
A44				`@0 0000 @1 © 2004 INIST-CNRS. All rights reserved.`
A45				`@0 18 ref.`
A47	`01`	`1`		`@0 04-0366910`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 We report on the clinical manifestation of spinocerebellar ataxia 17 (SCA17) in 3 members of a German family, in whom the pathological repeat expansion in the TATA-binding protein gene ranged from 53 to 55 repeats (normal: 29-42). The main clinical features were focal dystonia as presenting sign, followed by cerebellar ataxia, and, in the later course of one case, dementia and marked spasticity with signs of cerebellar and cerebral atrophy on brain computed tomography (CT) scan. In conclusion, SCA17 mutations should be considered in the differential diagnosis of focal dystonia.
C02	`01`	`X`		`@0 002B17`
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 Ataxie spinocérébelleuse @2 NM @5 02`
C03	`02`	`X`	`ENG`	`@0 Spinocerebellar ataxia @2 NM @5 02`
C03	`02`	`X`	`SPA`	`@0 Ataxia spinocerebelosa @2 NM @5 02`
C03	`03`	`X`	`FRE`	`@0 Système nerveux pathologie @5 04`
C03	`03`	`X`	`ENG`	`@0 Nervous system diseases @5 04`
C03	`03`	`X`	`SPA`	`@0 Sistema nervioso patología @5 04`
C07	`01`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 37`
C07	`01`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 37`
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`
C07	`02`	`X`	`SPA`	`@0 Movimiento involuntario @5 38`
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`
C07	`04`	`X`	`ENG`	`@0 Neurological disorder @5 40`
C07	`04`	`X`	`SPA`	`@0 Trastorno neurológico @5 40`
C07	`05`	`X`	`FRE`	`@0 Encéphale pathologie @5 41`
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				`@1 208`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 04-0366910 INIST
ET :	Focal dystonia as a presenting sign of spinocerebellar ataxia 17
AU :	HAGENAH (Johann M.); ZÜHLKE (Christine); HELLENBROICH (Yorck); HEIDE (Wolfgang); KLEIN (Christine)
AF :	Department of Neurology, University of Lübeck/Lübeck/Allemagne (1 aut., 4 aut., 5 aut.); Department of Human Genetics, University of Lübeck/Lübeck/Allemagne (2 aut., 3 aut., 5 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2004; Vol. 19; No. 2; Pp. 217-220; Bibl. 18 ref.
LA :	Anglais
EA :	We report on the clinical manifestation of spinocerebellar ataxia 17 (SCA17) in 3 members of a German family, in whom the pathological repeat expansion in the TATA-binding protein gene ranged from 53 to 55 repeats (normal: 29-42). The main clinical features were focal dystonia as presenting sign, followed by cerebellar ataxia, and, in the later course of one case, dementia and marked spasticity with signs of cerebellar and cerebral atrophy on brain computed tomography (CT) scan. In conclusion, SCA17 mutations should be considered in the differential diagnosis of focal dystonia.
CC :	002B17
FD :	Dystonie; Ataxie spinocérébelleuse; Système nerveux pathologie
FG :	Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Encéphale pathologie; Système nerveux central pathologie
ED :	Dystonia; Spinocerebellar ataxia; Nervous system diseases
EG :	Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease
SD :	Distonía; Ataxia spinocerebelosa; Sistema nervioso patología
LO :	INIST-20953.354000119281330140
ID :	04-0366910

Links to Exploration step

Pascal:04-0366910

Le document en format XML

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<front><div type="abstract" xml:lang="en">We report on the clinical manifestation of spinocerebellar ataxia 17 (SCA17) in 3 members of a German family, in whom the pathological repeat expansion in the TATA-binding protein gene ranged from 53 to 55 repeats (normal: 29-42). The main clinical features were focal dystonia as presenting sign, followed by cerebellar ataxia, and, in the later course of one case, dementia and marked spasticity with signs of cerebellar and cerebral atrophy on brain computed tomography (CT) scan. In conclusion, SCA17 mutations should be considered in the differential diagnosis of focal dystonia.</div>
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<server><NO>PASCAL 04-0366910 INIST</NO>
<ET>Focal dystonia as a presenting sign of spinocerebellar ataxia 17</ET>
<AU>HAGENAH (Johann M.); ZÜHLKE (Christine); HELLENBROICH (Yorck); HEIDE (Wolfgang); KLEIN (Christine)</AU>
<AF>Department of Neurology, University of Lübeck/Lübeck/Allemagne (1 aut., 4 aut., 5 aut.); Department of Human Genetics, University of Lübeck/Lübeck/Allemagne (2 aut., 3 aut., 5 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2004; Vol. 19; No. 2; Pp. 217-220; Bibl. 18 ref.</SO>
<LA>Anglais</LA>
<EA>We report on the clinical manifestation of spinocerebellar ataxia 17 (SCA17) in 3 members of a German family, in whom the pathological repeat expansion in the TATA-binding protein gene ranged from 53 to 55 repeats (normal: 29-42). The main clinical features were focal dystonia as presenting sign, followed by cerebellar ataxia, and, in the later course of one case, dementia and marked spasticity with signs of cerebellar and cerebral atrophy on brain computed tomography (CT) scan. In conclusion, SCA17 mutations should be considered in the differential diagnosis of focal dystonia.</EA>
<CC>002B17</CC>
<FD>Dystonie; Ataxie spinocérébelleuse; Système nerveux pathologie</FD>
<FG>Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Encéphale pathologie; Système nerveux central pathologie</FG>
<ED>Dystonia; Spinocerebellar ataxia; Nervous system diseases</ED>
<EG>Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease</EG>
<SD>Distonía; Ataxia spinocerebelosa; Sistema nervioso patología</SD>
<LO>INIST-20953.354000119281330140</LO>
<ID>04-0366910</ID>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Focal dystonia as a presenting sign of spinocerebellar ataxia 17

Focal dystonia as a presenting sign of spinocerebellar ataxia 17

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