MovDisordV3, PascalFrancis, Corpus, bibRecord, 001036

Spectrum of Movement Disorders Associated with Glutaric Aciduria Type 1 : A Study of 16 Patients

Identifieur interne : 001036 ( PascalFrancis/Corpus ); précédent : 001035; suivant : 001037

Spectrum of Movement Disorders Associated with Glutaric Aciduria Type 1 : A Study of 16 Patients

Auteurs : Cyril Gitiaux ; Emmanuel Roze ; Kiyoka Kinugawa ; Constance Flamand-Rouviere ; Nathalie Boddaert ; Emmanuelle Apartis ; Vassili Valayannopoulos ; Guy Touati ; Jacques Motte ; David Devos ; Karine Mention ; Dries Dobbelaere ; Diana Rodriguez ; Agathe Roubertie ; Brigitte Chabrol ; Francois Feillet ; Marie Vidailhet ; Nadia Bahi-Buisson

Source :

Movement disorders [ 0885-3185 ] ; 2008.

RBID : Pascal:09-0058898

Descripteurs français

Pascal (Inist)
- Dystonie, Trouble du langage, Pathologie du système nerveux, Acidurie, Homme, Maladie métabolique.

English descriptors

KwdEn :
- Aciduria, Dystonia, Human, Language disorder, Metabolic diseases, Nervous system diseases.

Abstract

Glutaric aciduria type 1 (GA1) is an autosomal recessive neurometabolic disorder due to glutaryl CoA dehydrogenase deficiency. Comprehensive descriptions of GA1-associated movement disorders are rare. In order to refine the description of the motor phenotype, we prospectively studied 16 consecutive pediatric and adult GA1 patients, focusing on the movement disorders and their time course. In most patients, generalized dystonia, superimposed on baseline axial hypotonia, remained the predominant feature throughout the disease course. With aging, it tended to evolve from mobile to fixed dystonia and to be associated with akinetic-rigid parkinsonism. Prominent orofacial involvement was a consistent feature in GA1 patients with movement disorders, resulting in speech disorders with features of combined hyperkinetic dysarthria and speech apraxia. The types and outcome of movement disorders in this setting should be taken into consideration during rehabilitation and for patient selection and evaluation in therapeutic trials.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A11	`01`	`1`		`@1 GITIAUX (Cyril)`
A11	`02`	`1`		`@1 ROZE (Emmanuel)`
A11	`03`	`1`		`@1 KINUGAWA (Kiyoka)`
A11	`04`	`1`		`@1 FLAMAND-ROUVIERE (Constance)`
A11	`05`	`1`		`@1 BODDAERT (Nathalie)`
A11	`06`	`1`		`@1 APARTIS (Emmanuelle)`
A11	`07`	`1`		`@1 VALAYANNOPOULOS (Vassili)`
A11	`08`	`1`		`@1 TOUATI (Guy)`
A11	`09`	`1`		`@1 MOTTE (Jacques)`
A11	`10`	`1`		`@1 DEVOS (David)`
A11	`11`	`1`		`@1 MENTION (Karine)`
A11	`12`	`1`		`@1 DOBBELAERE (Dries)`
A11	`13`	`1`		`@1 RODRIGUEZ (Diana)`
A11	`14`	`1`		`@1 ROUBERTIE (Agathe)`
A11	`15`	`1`		`@1 CHABROL (Brigitte)`
A11	`16`	`1`		`@1 FEILLET (Francois)`
A11	`17`	`1`		`@1 VIDAILHET (Marie)`
A11	`18`	`1`		`@1 BAHI-BUISSON (Nadia)`
A14	`01`			`@1 Université Paris-Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP-HP @2 Paris @3 FRA @Z 1 aut. @Z 7 aut. @Z 8 aut. @Z 18 aut.`
A14	`02`			`@1 Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié-Salpêtrière, AP-HP @2 Paris @3 FRA @Z 2 aut. @Z 3 aut. @Z 17 aut. @Z 18 aut.`
A14	`03`			`@1 Université Pierre Marie Curie, CNRS UMR 7102, Paris VI @2 Paris @3 FRA @Z 2 aut. @Z 17 aut.`
A14	`04`			`@1 Service de Neurologie, Bicêtre, AP-HP @2 Paris @3 FRA @Z 4 aut.`
A14	`05`			`@1 Université Paris-Descartes, Service de Radiologie Pédiatrique, Hôpital Necker Enfants Malades, AP-HP @2 Paris @3 FRA @Z 5 aut.`
A14	`06`			`@1 INSERM U797-INSERM-CEA, Service Hospitalier Frederic Joliot @2 Orsay @3 FRA @Z 5 aut.`
A14	`07`			`@1 Service de Neurophysiologie Hôpital Saint-Antoine, AP-HP @2 Paris @3 FRA @Z 6 aut.`
A14	`08`			`@1 Université Paris-Descartes, Centre de Référence Erreurs Innées du Métabolisme, Hôpital Necker-Enfants-Malades, AP-HP @2 Paris @3 FRA @Z 7 aut.`
A14	`09`			`@1 Unité de Neurologie Pédiatrique, American Mémorial Hospital, CHU Reims @3 FRA @Z 9 aut.`
A14	`10`			`@1 Service de Neurologie et Pathologie du Mouvement, EA 2683, IFR 114, IMPRT @2 Lille @3 FRA @Z 10 aut.`
A14	`11`			`@1 University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases @2 Lille @3 FRA @Z 11 aut. @Z 12 aut.`
A14	`12`			`@1 Université Pierre et Marie Curie-Paris VI, Service de Neuropédiatrie, Hôpital Armand Trousseau @2 Paris @3 FRA @Z 13 aut.`
A14	`13`			`@1 Département de Neurologie Pédiatrique @2 Montpellier @3 FRA @Z 14 aut.`
A14	`14`			`@1 Service de Neurologie Pédiatrique, Centre de Référence des Maladies Héréditaires du Métabolisme, CHU La Timone @2 Marseille @3 FRA @Z 15 aut.`
A14	`15`			`@1 Centre de référence des Maladies Héréditaires du Métabolisme, INSERM U724 @2 Nancy @3 FRA @Z 16 aut.`
A20				`@1 2392-2397`
A21				`@1 2008`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000196116650150`
A44				`@0 0000 @1 © 2009 INIST-CNRS. All rights reserved.`
A45				`@0 28 ref.`
A47	`01`	`1`		`@0 09-0058898`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Glutaric aciduria type 1 (GA1) is an autosomal recessive neurometabolic disorder due to glutaryl CoA dehydrogenase deficiency. Comprehensive descriptions of GA1-associated movement disorders are rare. In order to refine the description of the motor phenotype, we prospectively studied 16 consecutive pediatric and adult GA1 patients, focusing on the movement disorders and their time course. In most patients, generalized dystonia, superimposed on baseline axial hypotonia, remained the predominant feature throughout the disease course. With aging, it tended to evolve from mobile to fixed dystonia and to be associated with akinetic-rigid parkinsonism. Prominent orofacial involvement was a consistent feature in GA1 patients with movement disorders, resulting in speech disorders with features of combined hyperkinetic dysarthria and speech apraxia. The types and outcome of movement disorders in this setting should be taken into consideration during rehabilitation and for patient selection and evaluation in therapeutic trials.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17F`
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 Trouble du langage @5 02`
C03	`02`	`X`	`ENG`	`@0 Language disorder @5 02`
C03	`02`	`X`	`SPA`	`@0 Trastorno lenguaje @5 02`
C03	`03`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 03`
C03	`03`	`X`	`ENG`	`@0 Nervous system diseases @5 03`
C03	`03`	`X`	`SPA`	`@0 Sistema nervioso patología @5 03`
C03	`04`	`X`	`FRE`	`@0 Acidurie @5 09`
C03	`04`	`X`	`ENG`	`@0 Aciduria @5 09`
C03	`04`	`X`	`SPA`	`@0 Aciduria @5 09`
C03	`05`	`X`	`FRE`	`@0 Homme @5 10`
C03	`05`	`X`	`ENG`	`@0 Human @5 10`
C03	`05`	`X`	`SPA`	`@0 Hombre @5 10`
C03	`06`	`X`	`FRE`	`@0 Maladie métabolique @5 11`
C03	`06`	`X`	`ENG`	`@0 Metabolic diseases @5 11`
C03	`06`	`X`	`SPA`	`@0 Metabolismo patología @5 11`
C07	`01`	`X`	`FRE`	`@0 Syndrome extrapyramidal @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 Pathologie du muscle strié @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 41`
C07	`04`	`X`	`ENG`	`@0 Neurological disorder @5 41`
C07	`04`	`X`	`SPA`	`@0 Trastorno neurológico @5 41`
C07	`05`	`X`	`FRE`	`@0 Trouble de la communication @5 42`
C07	`05`	`X`	`ENG`	`@0 Communication disorder @5 42`
C07	`05`	`X`	`SPA`	`@0 Trastorno comunicación @5 42`
C07	`06`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 43`
C07	`06`	`X`	`ENG`	`@0 Cerebral disorder @5 43`
C07	`06`	`X`	`SPA`	`@0 Encéfalo patología @5 43`
C07	`07`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 44`
C07	`07`	`X`	`ENG`	`@0 Central nervous system disease @5 44`
C07	`07`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 44`
N21				`@1 040`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 09-0058898 INIST
ET :	Spectrum of Movement Disorders Associated with Glutaric Aciduria Type 1 : A Study of 16 Patients
AU :	GITIAUX (Cyril); ROZE (Emmanuel); KINUGAWA (Kiyoka); FLAMAND-ROUVIERE (Constance); BODDAERT (Nathalie); APARTIS (Emmanuelle); VALAYANNOPOULOS (Vassili); TOUATI (Guy); MOTTE (Jacques); DEVOS (David); MENTION (Karine); DOBBELAERE (Dries); RODRIGUEZ (Diana); ROUBERTIE (Agathe); CHABROL (Brigitte); FEILLET (Francois); VIDAILHET (Marie); BAHI-BUISSON (Nadia)
AF :	Université Paris-Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP-HP/Paris/France (1 aut., 7 aut., 8 aut., 18 aut.); Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié-Salpêtrière, AP-HP/Paris/France (2 aut., 3 aut., 17 aut., 18 aut.); Université Pierre Marie Curie, CNRS UMR 7102, Paris VI/Paris/France (2 aut., 17 aut.); Service de Neurologie, Bicêtre, AP-HP/Paris/France (4 aut.); Université Paris-Descartes, Service de Radiologie Pédiatrique, Hôpital Necker Enfants Malades, AP-HP/Paris/France (5 aut.); INSERM U797-INSERM-CEA, Service Hospitalier Frederic Joliot/Orsay/France (5 aut.); Service de Neurophysiologie Hôpital Saint-Antoine, AP-HP/Paris/France (6 aut.); Université Paris-Descartes, Centre de Référence Erreurs Innées du Métabolisme, Hôpital Necker-Enfants-Malades, AP-HP/Paris/France (7 aut.); Unité de Neurologie Pédiatrique, American Mémorial Hospital, CHU Reims/France (9 aut.); Service de Neurologie et Pathologie du Mouvement, EA 2683, IFR 114, IMPRT/Lille/France (10 aut.); University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases/Lille/France (11 aut., 12 aut.); Université Pierre et Marie Curie-Paris VI, Service de Neuropédiatrie, Hôpital Armand Trousseau/Paris/France (13 aut.); Département de Neurologie Pédiatrique/Montpellier/France (14 aut.); Service de Neurologie Pédiatrique, Centre de Référence des Maladies Héréditaires du Métabolisme, CHU La Timone/Marseille/France (15 aut.); Centre de référence des Maladies Héréditaires du Métabolisme, INSERM U724/Nancy/France (16 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2008; Vol. 23; No. 16; Pp. 2392-2397; Bibl. 28 ref.
LA :	Anglais
EA :	Glutaric aciduria type 1 (GA1) is an autosomal recessive neurometabolic disorder due to glutaryl CoA dehydrogenase deficiency. Comprehensive descriptions of GA1-associated movement disorders are rare. In order to refine the description of the motor phenotype, we prospectively studied 16 consecutive pediatric and adult GA1 patients, focusing on the movement disorders and their time course. In most patients, generalized dystonia, superimposed on baseline axial hypotonia, remained the predominant feature throughout the disease course. With aging, it tended to evolve from mobile to fixed dystonia and to be associated with akinetic-rigid parkinsonism. Prominent orofacial involvement was a consistent feature in GA1 patients with movement disorders, resulting in speech disorders with features of combined hyperkinetic dysarthria and speech apraxia. The types and outcome of movement disorders in this setting should be taken into consideration during rehabilitation and for patient selection and evaluation in therapeutic trials.
CC :	002B17; 002B17F
FD :	Dystonie; Trouble du langage; Pathologie du système nerveux; Acidurie; Homme; Maladie métabolique
FG :	Syndrome extrapyramidal; Mouvement involontaire; Pathologie du muscle strié; Trouble neurologique; Trouble de la communication; Pathologie de l'encéphale; Pathologie du système nerveux central
ED :	Dystonia; Language disorder; Nervous system diseases; Aciduria; Human; Metabolic diseases
EG :	Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Communication disorder; Cerebral disorder; Central nervous system disease
SD :	Distonía; Trastorno lenguaje; Sistema nervioso patología; Aciduria; Hombre; Metabolismo patología
LO :	INIST-20953.354000196116650150
ID :	09-0058898

Links to Exploration step

Pascal:09-0058898

Le document en format XML

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<author><name sortKey="Gitiaux, Cyril" sort="Gitiaux, Cyril" uniqKey="Gitiaux C" first="Cyril" last="Gitiaux">Cyril Gitiaux</name>
<affiliation><inist:fA14 i1="01"><s1>Université Paris-Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP-HP</s1>
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<author><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name>
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<author><name sortKey="Flamand Rouviere, Constance" sort="Flamand Rouviere, Constance" uniqKey="Flamand Rouviere C" first="Constance" last="Flamand-Rouviere">Constance Flamand-Rouviere</name>
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<author><name sortKey="Boddaert, Nathalie" sort="Boddaert, Nathalie" uniqKey="Boddaert N" first="Nathalie" last="Boddaert">Nathalie Boddaert</name>
<affiliation><inist:fA14 i1="05"><s1>Université Paris-Descartes, Service de Radiologie Pédiatrique, Hôpital Necker Enfants Malades, AP-HP</s1>
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<author><name sortKey="Apartis, Emmanuelle" sort="Apartis, Emmanuelle" uniqKey="Apartis E" first="Emmanuelle" last="Apartis">Emmanuelle Apartis</name>
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<author><name sortKey="Valayannopoulos, Vassili" sort="Valayannopoulos, Vassili" uniqKey="Valayannopoulos V" first="Vassili" last="Valayannopoulos">Vassili Valayannopoulos</name>
<affiliation><inist:fA14 i1="01"><s1>Université Paris-Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
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</affiliation>
<affiliation><inist:fA14 i1="08"><s1>Université Paris-Descartes, Centre de Référence Erreurs Innées du Métabolisme, Hôpital Necker-Enfants-Malades, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
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<author><name sortKey="Touati, Guy" sort="Touati, Guy" uniqKey="Touati G" first="Guy" last="Touati">Guy Touati</name>
<affiliation><inist:fA14 i1="01"><s1>Université Paris-Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP-HP</s1>
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<author><name sortKey="Motte, Jacques" sort="Motte, Jacques" uniqKey="Motte J" first="Jacques" last="Motte">Jacques Motte</name>
<affiliation><inist:fA14 i1="09"><s1>Unité de Neurologie Pédiatrique, American Mémorial Hospital, CHU Reims</s1>
<s3>FRA</s3>
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</affiliation>
</author>
<author><name sortKey="Devos, David" sort="Devos, David" uniqKey="Devos D" first="David" last="Devos">David Devos</name>
<affiliation><inist:fA14 i1="10"><s1>Service de Neurologie et Pathologie du Mouvement, EA 2683, IFR 114, IMPRT</s1>
<s2>Lille</s2>
<s3>FRA</s3>
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</author>
<author><name sortKey="Mention, Karine" sort="Mention, Karine" uniqKey="Mention K" first="Karine" last="Mention">Karine Mention</name>
<affiliation><inist:fA14 i1="11"><s1>University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases</s1>
<s2>Lille</s2>
<s3>FRA</s3>
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<sZ>12 aut.</sZ>
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</author>
<author><name sortKey="Dobbelaere, Dries" sort="Dobbelaere, Dries" uniqKey="Dobbelaere D" first="Dries" last="Dobbelaere">Dries Dobbelaere</name>
<affiliation><inist:fA14 i1="11"><s1>University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases</s1>
<s2>Lille</s2>
<s3>FRA</s3>
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</affiliation>
</author>
<author><name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name>
<affiliation><inist:fA14 i1="12"><s1>Université Pierre et Marie Curie-Paris VI, Service de Neuropédiatrie, Hôpital Armand Trousseau</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name>
<affiliation><inist:fA14 i1="13"><s1>Département de Neurologie Pédiatrique</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
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</author>
<author><name sortKey="Chabrol, Brigitte" sort="Chabrol, Brigitte" uniqKey="Chabrol B" first="Brigitte" last="Chabrol">Brigitte Chabrol</name>
<affiliation><inist:fA14 i1="14"><s1>Service de Neurologie Pédiatrique, Centre de Référence des Maladies Héréditaires du Métabolisme, CHU La Timone</s1>
<s2>Marseille</s2>
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</affiliation>
</author>
<author><name sortKey="Feillet, Francois" sort="Feillet, Francois" uniqKey="Feillet F" first="Francois" last="Feillet">Francois Feillet</name>
<affiliation><inist:fA14 i1="15"><s1>Centre de référence des Maladies Héréditaires du Métabolisme, INSERM U724</s1>
<s2>Nancy</s2>
<s3>FRA</s3>
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</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
<affiliation><inist:fA14 i1="02"><s1>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié-Salpêtrière, AP-HP</s1>
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<sZ>2 aut.</sZ>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Spectrum of Movement Disorders Associated with Glutaric Aciduria Type 1 : A Study of 16 Patients</title>
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<s3>FRA</s3>
<sZ>5 aut.</sZ>
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<s3>FRA</s3>
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<s2>Paris</s2>
<s3>FRA</s3>
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<affiliation><inist:fA14 i1="03"><s1>Université Pierre Marie Curie, CNRS UMR 7102, Paris VI</s1>
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<s3>FRA</s3>
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<series><title level="j" type="main">Movement disorders</title>
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<keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term>
<term>Trouble du langage</term>
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<front><div type="abstract" xml:lang="en">Glutaric aciduria type 1 (GA1) is an autosomal recessive neurometabolic disorder due to glutaryl CoA dehydrogenase deficiency. Comprehensive descriptions of GA1-associated movement disorders are rare. In order to refine the description of the motor phenotype, we prospectively studied 16 consecutive pediatric and adult GA1 patients, focusing on the movement disorders and their time course. In most patients, generalized dystonia, superimposed on baseline axial hypotonia, remained the predominant feature throughout the disease course. With aging, it tended to evolve from mobile to fixed dystonia and to be associated with akinetic-rigid parkinsonism. Prominent orofacial involvement was a consistent feature in GA1 patients with movement disorders, resulting in speech disorders with features of combined hyperkinetic dysarthria and speech apraxia. The types and outcome of movement disorders in this setting should be taken into consideration during rehabilitation and for patient selection and evaluation in therapeutic trials.</div>
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<sZ>5 aut.</sZ>
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<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
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<fA14 i1="15"><s1>Centre de référence des Maladies Héréditaires du Métabolisme, INSERM U724</s1>
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<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Dystonia</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Distonía</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Trouble du langage</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Language disorder</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Trastorno lenguaje</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Acidurie</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Aciduria</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Aciduria</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Homme</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Human</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Hombre</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Maladie métabolique</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Metabolic diseases</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Metabolismo patología</s0>
<s5>11</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Pathologie du muscle strié</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Trouble de la communication</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Communication disorder</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Trastorno comunicación</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>44</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>44</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>44</s5>
</fC07>
<fN21><s1>040</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 09-0058898 INIST</NO>
<ET>Spectrum of Movement Disorders Associated with Glutaric Aciduria Type 1 : A Study of 16 Patients</ET>
<AU>GITIAUX (Cyril); ROZE (Emmanuel); KINUGAWA (Kiyoka); FLAMAND-ROUVIERE (Constance); BODDAERT (Nathalie); APARTIS (Emmanuelle); VALAYANNOPOULOS (Vassili); TOUATI (Guy); MOTTE (Jacques); DEVOS (David); MENTION (Karine); DOBBELAERE (Dries); RODRIGUEZ (Diana); ROUBERTIE (Agathe); CHABROL (Brigitte); FEILLET (Francois); VIDAILHET (Marie); BAHI-BUISSON (Nadia)</AU>
<AF>Université Paris-Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP-HP/Paris/France (1 aut., 7 aut., 8 aut., 18 aut.); Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié-Salpêtrière, AP-HP/Paris/France (2 aut., 3 aut., 17 aut., 18 aut.); Université Pierre Marie Curie, CNRS UMR 7102, Paris VI/Paris/France (2 aut., 17 aut.); Service de Neurologie, Bicêtre, AP-HP/Paris/France (4 aut.); Université Paris-Descartes, Service de Radiologie Pédiatrique, Hôpital Necker Enfants Malades, AP-HP/Paris/France (5 aut.); INSERM U797-INSERM-CEA, Service Hospitalier Frederic Joliot/Orsay/France (5 aut.); Service de Neurophysiologie Hôpital Saint-Antoine, AP-HP/Paris/France (6 aut.); Université Paris-Descartes, Centre de Référence Erreurs Innées du Métabolisme, Hôpital Necker-Enfants-Malades, AP-HP/Paris/France (7 aut.); Unité de Neurologie Pédiatrique, American Mémorial Hospital, CHU Reims/France (9 aut.); Service de Neurologie et Pathologie du Mouvement, EA 2683, IFR 114, IMPRT/Lille/France (10 aut.); University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases/Lille/France (11 aut., 12 aut.); Université Pierre et Marie Curie-Paris VI, Service de Neuropédiatrie, Hôpital Armand Trousseau/Paris/France (13 aut.); Département de Neurologie Pédiatrique/Montpellier/France (14 aut.); Service de Neurologie Pédiatrique, Centre de Référence des Maladies Héréditaires du Métabolisme, CHU La Timone/Marseille/France (15 aut.); Centre de référence des Maladies Héréditaires du Métabolisme, INSERM U724/Nancy/France (16 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2008; Vol. 23; No. 16; Pp. 2392-2397; Bibl. 28 ref.</SO>
<LA>Anglais</LA>
<EA>Glutaric aciduria type 1 (GA1) is an autosomal recessive neurometabolic disorder due to glutaryl CoA dehydrogenase deficiency. Comprehensive descriptions of GA1-associated movement disorders are rare. In order to refine the description of the motor phenotype, we prospectively studied 16 consecutive pediatric and adult GA1 patients, focusing on the movement disorders and their time course. In most patients, generalized dystonia, superimposed on baseline axial hypotonia, remained the predominant feature throughout the disease course. With aging, it tended to evolve from mobile to fixed dystonia and to be associated with akinetic-rigid parkinsonism. Prominent orofacial involvement was a consistent feature in GA1 patients with movement disorders, resulting in speech disorders with features of combined hyperkinetic dysarthria and speech apraxia. The types and outcome of movement disorders in this setting should be taken into consideration during rehabilitation and for patient selection and evaluation in therapeutic trials.</EA>
<CC>002B17; 002B17F</CC>
<FD>Dystonie; Trouble du langage; Pathologie du   système nerveux; Acidurie; Homme; Maladie métabolique</FD>
<FG>Syndrome extrapyramidal; Mouvement involontaire; Pathologie du muscle strié; Trouble neurologique; Trouble de la communication; Pathologie de l'encéphale; Pathologie du   système nerveux central</FG>
<ED>Dystonia; Language disorder; Nervous system diseases; Aciduria; Human; Metabolic diseases</ED>
<EG>Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Communication disorder; Cerebral disorder; Central nervous system disease</EG>
<SD>Distonía; Trastorno lenguaje; Sistema nervioso patología; Aciduria; Hombre; Metabolismo patología</SD>
<LO>INIST-20953.354000196116650150</LO>
<ID>09-0058898</ID>
</server>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Spectrum of Movement Disorders Associated with Glutaric Aciduria Type 1 : A Study of 16 Patients

Spectrum of Movement Disorders Associated with Glutaric Aciduria Type 1 : A Study of 16 Patients

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