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Movement Disorders (revue)

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Adult-onset dystonia : Atypical manifestation of segawa disease

Identifieur interne : 001608 ( PascalFrancis/Corpus ); précédent : 001607; suivant : 001609

Adult-onset dystonia : Atypical manifestation of segawa disease

Auteurs : Jens Ulrich Regula ; Uwe Thoden ; Hans-Michael Meinck

Source :

RBID : Pascal:07-0391088

Descripteurs français

English descriptors

Abstract

A 33-year-old woman developed exercise-induced limb and trunk dystonia with marked diurnal fluctuations. Treatment with levodopa improved her symptoms considerably but incompletely. Molecular genetic analysis revealed a mutation in GTP cyclohydrolase 1 (GCH1). This report illustrates the variability of Segawa disease and underlines the importance of a levodopa test in patients with uncommon dystonic symptoms.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

pA  
A01 01  1    @0 0885-3185
A03   1    @0 Mov. disord.
A05       @2 22
A06       @2 9
A08 01  1  ENG  @1 Adult-onset dystonia : Atypical manifestation of segawa disease
A11 01  1    @1 REGULA (Jens Ulrich)
A11 02  1    @1 THODEN (Uwe)
A11 03  1    @1 MEINCK (Hans-Michael)
A14 01      @1 Neurologische Universitätsklinik Heidelberg, Im Neuenheimer Feld 400 @2 69120 Heidelberg @3 DEU @Z 1 aut. @Z 3 aut.
A14 02      @1 Neurologische Klinik, Klinikum Landshut, Robert-Koch-Strasse 1 @2 84034 Landshut @3 DEU @Z 2 aut.
A20       @1 1335-1337
A21       @1 2007
A23 01      @0 ENG
A43 01      @1 INIST @2 20953 @5 354000146732490210
A44       @0 0000 @1 © 2007 INIST-CNRS. All rights reserved.
A45       @0 10 ref.
A47 01  1    @0 07-0391088
A60       @1 P @3 CC
A61       @0 A
A64 01  1    @0 Movement disorders
A66 01      @0 USA
C01 01    ENG  @0 A 33-year-old woman developed exercise-induced limb and trunk dystonia with marked diurnal fluctuations. Treatment with levodopa improved her symptoms considerably but incompletely. Molecular genetic analysis revealed a mutation in GTP cyclohydrolase 1 (GCH1). This report illustrates the variability of Segawa disease and underlines the importance of a levodopa test in patients with uncommon dystonic symptoms.
C02 01  X    @0 002B17
C02 02  X    @0 002B17G
C02 03  X    @0 002B17H
C03 01  X  FRE  @0 Système nerveux pathologie @5 01
C03 01  X  ENG  @0 Nervous system diseases @5 01
C03 01  X  SPA  @0 Sistema nervioso patología @5 01
C03 02  X  FRE  @0 Dystonie @5 02
C03 02  X  ENG  @0 Dystonia @5 02
C03 02  X  SPA  @0 Distonía @5 02
C03 03  X  FRE  @0 Cyphose @5 03
C03 03  X  ENG  @0 Kyphosis @5 03
C03 03  X  SPA  @0 Cifosis @5 03
C03 04  X  FRE  @0 Rachis dorsal @5 78
C03 04  X  ENG  @0 Dorsal spine @5 78
C03 04  X  SPA  @0 Raquis dorsal @5 78
C03 05  X  FRE  @0 Camptocormie @4 INC @5 86
C03 06  X  FRE  @0 Segawa maladie @4 CD @5 96
C03 06  X  ENG  @0 Segawa disease @4 CD @5 96
C03 06  X  SPA  @0 Segawa enfermedad @4 CD @5 96
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 Maladie héréditaire @5 41
C07 05  X  ENG  @0 Genetic disease @5 41
C07 05  X  SPA  @0 Enfermedad hereditaria @5 41
C07 06  X  FRE  @0 Déformation @5 42
C07 06  X  ENG  @0 Deformation @5 42
C07 06  X  SPA  @0 Deformación @5 42
C07 07  X  FRE  @0 Rachis pathologie @5 43
C07 07  X  ENG  @0 Spine disease @5 43
C07 07  X  SPA  @0 Raquis patología @5 43
C07 08  X  FRE  @0 Système ostéoarticulaire pathologie @5 44
C07 08  X  ENG  @0 Diseases of the osteoarticular system @5 44
C07 08  X  SPA  @0 Sistema osteoarticular patología @5 44
C07 09  X  FRE  @0 Encéphale pathologie @5 45
C07 09  X  ENG  @0 Cerebral disorder @5 45
C07 09  X  SPA  @0 Encéfalo patología @5 45
C07 10  X  FRE  @0 Système nerveux central pathologie @5 46
C07 10  X  ENG  @0 Central nervous system disease @5 46
C07 10  X  SPA  @0 Sistema nervosio central patología @5 46
N21       @1 253
N44 01      @1 OTO
N82       @1 OTO

Format Inist (serveur)

NO : PASCAL 07-0391088 INIST
ET : Adult-onset dystonia : Atypical manifestation of segawa disease
AU : REGULA (Jens Ulrich); THODEN (Uwe); MEINCK (Hans-Michael)
AF : Neurologische Universitätsklinik Heidelberg, Im Neuenheimer Feld 400/69120 Heidelberg/Allemagne (1 aut., 3 aut.); Neurologische Klinik, Klinikum Landshut, Robert-Koch-Strasse 1/84034 Landshut/Allemagne (2 aut.)
DT : Publication en série; Courte communication, note brève; Niveau analytique
SO : Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 9; Pp. 1335-1337; Bibl. 10 ref.
LA : Anglais
EA : A 33-year-old woman developed exercise-induced limb and trunk dystonia with marked diurnal fluctuations. Treatment with levodopa improved her symptoms considerably but incompletely. Molecular genetic analysis revealed a mutation in GTP cyclohydrolase 1 (GCH1). This report illustrates the variability of Segawa disease and underlines the importance of a levodopa test in patients with uncommon dystonic symptoms.
CC : 002B17; 002B17G; 002B17H
FD : Système nerveux pathologie; Dystonie; Cyphose; Rachis dorsal; Camptocormie; Segawa maladie
FG : Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Maladie héréditaire; Déformation; Rachis pathologie; Système ostéoarticulaire pathologie; Encéphale pathologie; Système nerveux central pathologie
ED : Nervous system diseases; Dystonia; Kyphosis; Dorsal spine; Segawa disease
EG : Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Genetic disease; Deformation; Spine disease; Diseases of the osteoarticular system; Cerebral disorder; Central nervous system disease
SD : Sistema nervioso patología; Distonía; Cifosis; Raquis dorsal; Segawa enfermedad
LO : INIST-20953.354000146732490210
ID : 07-0391088

Links to Exploration step

Pascal:07-0391088

Le document en format XML

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<NO>PASCAL 07-0391088 INIST</NO>
<ET>Adult-onset dystonia : Atypical manifestation of segawa disease</ET>
<AU>REGULA (Jens Ulrich); THODEN (Uwe); MEINCK (Hans-Michael)</AU>
<AF>Neurologische Universitätsklinik Heidelberg, Im Neuenheimer Feld 400/69120 Heidelberg/Allemagne (1 aut., 3 aut.); Neurologische Klinik, Klinikum Landshut, Robert-Koch-Strasse 1/84034 Landshut/Allemagne (2 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 9; Pp. 1335-1337; Bibl. 10 ref.</SO>
<LA>Anglais</LA>
<EA>A 33-year-old woman developed exercise-induced limb and trunk dystonia with marked diurnal fluctuations. Treatment with levodopa improved her symptoms considerably but incompletely. Molecular genetic analysis revealed a mutation in GTP cyclohydrolase 1 (GCH1). This report illustrates the variability of Segawa disease and underlines the importance of a levodopa test in patients with uncommon dystonic symptoms.</EA>
<CC>002B17; 002B17G; 002B17H</CC>
<FD>Système nerveux pathologie; Dystonie; Cyphose; Rachis dorsal; Camptocormie; Segawa maladie</FD>
<FG>Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Maladie héréditaire; Déformation; Rachis pathologie; Système ostéoarticulaire pathologie; Encéphale pathologie; Système nerveux central pathologie</FG>
<ED>Nervous system diseases; Dystonia; Kyphosis; Dorsal spine; Segawa disease</ED>
<EG>Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Genetic disease; Deformation; Spine disease; Diseases of the osteoarticular system; Cerebral disorder; Central nervous system disease</EG>
<SD>Sistema nervioso patología; Distonía; Cifosis; Raquis dorsal; Segawa enfermedad</SD>
<LO>INIST-20953.354000146732490210</LO>
<ID>07-0391088</ID>
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