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Recurrent dystonia in homocystinuria : A metabolic pathogenesis

Identifieur interne : 001931 ( PascalFrancis/Corpus ); précédent : 001930; suivant : 001932

Recurrent dystonia in homocystinuria : A metabolic pathogenesis

Auteurs : Alex J. Sinclair ; Lucy Barling ; Simon Nightingale

Source :

RBID : Pascal:06-0538611

Descripteurs français

English descriptors

Abstract

Dystonia complicating homocystinuria is extremely rare in the absence of thromboembolic disease. We report a unique case of recurrent dystonia in a patient with homocystinuria secondary to pyridoxine-unresponsive cystathionine β-synthase deficiency. Brain MRI was normal. Two biochemical markers for homocystinuria, homocystine and methionine, were markedly elevated during periods when our patient manifested dystonia. These findings suggest that accumulation of sulfur-containing amino acids may contribute to the pathophysiology of dystonia in patients with homocystinuria.

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 21
A06       @2 10
A08 01  1  ENG  @1 Recurrent dystonia in homocystinuria : A metabolic pathogenesis
A11 01  1    @1 SINCLAIR (Alex J.)
A11 02  1    @1 BARLING (Lucy)
A11 03  1    @1 NIGHTINGALE (Simon)
A14 01      @1 Department of Neurology, Queen Elizabeth Hospital @2 Birmingham @3 GBR @Z 1 aut. @Z 3 aut.
A14 02      @1 Department of Neurology, Royal Shrewsbury Hospital @2 Shropshire @3 GBR @Z 2 aut. @Z 3 aut.
A20       @1 1780-1782
A21       @1 2006
A23 01      @0 ENG
A43 01      @1 INIST @2 20953 @5 354000158877800410
A44       @0 0000 @1 © 2006 INIST-CNRS. All rights reserved.
A45       @0 16 ref.
A47 01  1    @0 06-0538611
A60       @1 P @3 CC
A61       @0 A
A64 01  1    @0 Movement disorders
A66 01      @0 USA
C01 01    ENG  @0 Dystonia complicating homocystinuria is extremely rare in the absence of thromboembolic disease. We report a unique case of recurrent dystonia in a patient with homocystinuria secondary to pyridoxine-unresponsive cystathionine β-synthase deficiency. Brain MRI was normal. Two biochemical markers for homocystinuria, homocystine and methionine, were markedly elevated during periods when our patient manifested dystonia. These findings suggest that accumulation of sulfur-containing amino acids may contribute to the pathophysiology of dystonia in patients with homocystinuria.
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C02 02  X    @0 002B17H
C02 03  X    @0 002B17A01
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 Homocystinurie @5 03
C03 03  X  ENG  @0 Homocystinuria @5 03
C03 03  X  SPA  @0 Homocistinuria @5 03
C03 04  X  FRE  @0 Récidivant @5 09
C03 04  X  ENG  @0 Recurrent @5 09
C03 04  X  SPA  @0 Recidivante @5 09
C03 05  X  FRE  @0 Pathogénie @5 10
C03 05  X  ENG  @0 Pathogenesis @5 10
C03 05  X  SPA  @0 Patogenia @5 10
C07 01  X  FRE  @0 Encéphale pathologie @5 37
C07 01  X  ENG  @0 Cerebral disorder @5 37
C07 01  X  SPA  @0 Encéfalo patología @5 37
C07 02  X  FRE  @0 Métabolisme pathologie @5 38
C07 02  X  ENG  @0 Metabolic diseases @5 38
C07 02  X  SPA  @0 Metabolismo patología @5 38
C07 03  X  FRE  @0 Extrapyramidal syndrome @5 39
C07 03  X  ENG  @0 Extrapyramidal syndrome @5 39
C07 03  X  SPA  @0 Extrapiramidal síndrome @5 39
C07 04  X  FRE  @0 Mouvement involontaire @5 40
C07 04  X  ENG  @0 Involuntary movement @5 40
C07 04  X  SPA  @0 Movimiento involuntario @5 40
C07 05  X  FRE  @0 Muscle strié pathologie @5 41
C07 05  X  ENG  @0 Striated muscle disease @5 41
C07 05  X  SPA  @0 Músculo estriado patología @5 41
C07 06  X  FRE  @0 Trouble neurologique @5 42
C07 06  X  ENG  @0 Neurological disorder @5 42
C07 06  X  SPA  @0 Trastorno neurológico @5 42
C07 07  X  FRE  @0 Aminoacidopathie @5 43
C07 07  X  ENG  @0 Aminoacid disorder @5 43
C07 07  X  SPA  @0 Aminoacido alteración @5 43
C07 08  X  FRE  @0 Enzymopathie @5 44
C07 08  X  ENG  @0 Enzymopathy @5 44
C07 08  X  SPA  @0 Enzimopatía @5 44
C07 09  X  FRE  @0 Maladie héréditaire @5 45
C07 09  X  ENG  @0 Genetic disease @5 45
C07 09  X  SPA  @0 Enfermedad hereditaria @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       @1 353
N44 01      @1 OTO
N82       @1 OTO

Format Inist (serveur)

NO : PASCAL 06-0538611 INIST
ET : Recurrent dystonia in homocystinuria : A metabolic pathogenesis
AU : SINCLAIR (Alex J.); BARLING (Lucy); NIGHTINGALE (Simon)
AF : Department of Neurology, Queen Elizabeth Hospital/Birmingham/Royaume-Uni (1 aut., 3 aut.); Department of Neurology, Royal Shrewsbury Hospital/Shropshire/Royaume-Uni (2 aut., 3 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. 1780-1782; Bibl. 16 ref.
LA : Anglais
EA : Dystonia complicating homocystinuria is extremely rare in the absence of thromboembolic disease. We report a unique case of recurrent dystonia in a patient with homocystinuria secondary to pyridoxine-unresponsive cystathionine β-synthase deficiency. Brain MRI was normal. Two biochemical markers for homocystinuria, homocystine and methionine, were markedly elevated during periods when our patient manifested dystonia. These findings suggest that accumulation of sulfur-containing amino acids may contribute to the pathophysiology of dystonia in patients with homocystinuria.
CC : 002B17; 002B17H; 002B17A01
FD : Système nerveux pathologie; Dystonie; Homocystinurie; Récidivant; Pathogénie
FG : Encéphale pathologie; Métabolisme pathologie; Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Aminoacidopathie; Enzymopathie; Maladie héréditaire; Système nerveux central pathologie
ED : Nervous system diseases; Dystonia; Homocystinuria; Recurrent; Pathogenesis
EG : Cerebral disorder; Metabolic diseases; Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Aminoacid disorder; Enzymopathy; Genetic disease; Central nervous system disease
SD : Sistema nervioso patología; Distonía; Homocistinuria; Recidivante; Patogenia
LO : INIST-20953.354000158877800410
ID : 06-0538611

Links to Exploration step

Pascal:06-0538611

Le document en format XML

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<ET>Recurrent dystonia in homocystinuria : A metabolic pathogenesis</ET>
<AU>SINCLAIR (Alex J.); BARLING (Lucy); NIGHTINGALE (Simon)</AU>
<AF>Department of Neurology, Queen Elizabeth Hospital/Birmingham/Royaume-Uni (1 aut., 3 aut.); Department of Neurology, Royal Shrewsbury Hospital/Shropshire/Royaume-Uni (2 aut., 3 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 10; Pp. 1780-1782; Bibl. 16 ref.</SO>
<LA>Anglais</LA>
<EA>Dystonia complicating homocystinuria is extremely rare in the absence of thromboembolic disease. We report a unique case of recurrent dystonia in a patient with homocystinuria secondary to pyridoxine-unresponsive cystathionine β-synthase deficiency. Brain MRI was normal. Two biochemical markers for homocystinuria, homocystine and methionine, were markedly elevated during periods when our patient manifested dystonia. These findings suggest that accumulation of sulfur-containing amino acids may contribute to the pathophysiology of dystonia in patients with homocystinuria.</EA>
<CC>002B17; 002B17H; 002B17A01</CC>
<FD>Système nerveux pathologie; Dystonie; Homocystinurie; Récidivant; Pathogénie</FD>
<FG>Encéphale pathologie; Métabolisme pathologie; Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Aminoacidopathie; Enzymopathie; Maladie héréditaire; Système nerveux central pathologie</FG>
<ED>Nervous system diseases; Dystonia; Homocystinuria; Recurrent; Pathogenesis</ED>
<EG>Cerebral disorder; Metabolic diseases; Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Aminoacid disorder; Enzymopathy; Genetic disease; Central nervous system disease</EG>
<SD>Sistema nervioso patología; Distonía; Homocistinuria; Recidivante; Patogenia</SD>
<LO>INIST-20953.354000158877800410</LO>
<ID>06-0538611</ID>
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