MovDisordV3, Main, Curation, bibRecord, 002626

Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients

Identifieur interne : 002626 ( Main/Curation ); précédent : 002625; suivant : 002627

Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients

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

Source :

Movement Disorders [ 0885-3185 ] ; 2008-12-15.

RBID : ISTEX:6FC8BB5950EF357AEEE50E499502E5A4DAA27717

Descripteurs français

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

English descriptors

KwdEn :
- Aciduria, Adolescent, Adult, Age Factors, Child, Child, Preschool, Dystonia, Electromyography, Female, Human, Humans, Infant, Language disorder, Magnetic Resonance Imaging, Male, Metabolic diseases, Movement Disorders (complications), Movement Disorders (pathology), Movement Disorders (physiopathology), Multiple Acyl Coenzyme A Dehydrogenase Deficiency (complications), Nervous system diseases, Prospective Studies, Retrospective Studies, Young Adult, development, dystonia, metabolic disease, speech disorder, striatum.
MESH :
- complications : Movement Disorders, Multiple Acyl Coenzyme A Dehydrogenase Deficiency.
- pathology : Movement Disorders.
- physiopathology : Movement Disorders.
- Adolescent, Adult, Age Factors, Child, Child, Preschool, Electromyography, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Prospective Studies, Retrospective Studies, Young Adult.

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. © 2008 Movement Disorder Society

Url:

https://api.istex.fr/document/6FC8BB5950EF357AEEE50E499502E5A4DAA27717/fulltext/pdf

DOI: 10.1002/mds.22313

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<author><name sortKey="Mention, Karine" sort="Mention, Karine" uniqKey="Mention K" first="Karine" last="Mention">Karine Mention</name>
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<author><name sortKey="Bahi Uisson, Nadia" sort="Bahi Uisson, Nadia" uniqKey="Bahi Uisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aciduria</term>
<term>Adolescent</term>
<term>Adult</term>
<term>Age Factors</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Dystonia</term>
<term>Electromyography</term>
<term>Female</term>
<term>Human</term>
<term>Humans</term>
<term>Infant</term>
<term>Language disorder</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Metabolic diseases</term>
<term>Movement Disorders (complications)</term>
<term>Movement Disorders (pathology)</term>
<term>Movement Disorders (physiopathology)</term>
<term>Multiple Acyl Coenzyme A Dehydrogenase Deficiency (complications)</term>
<term>Nervous system diseases</term>
<term>Prospective Studies</term>
<term>Retrospective Studies</term>
<term>Young Adult</term>
<term>development</term>
<term>dystonia</term>
<term>metabolic disease</term>
<term>speech disorder</term>
<term>striatum</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Movement Disorders</term>
<term>Multiple Acyl Coenzyme A Dehydrogenase Deficiency</term>
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<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Movement Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Movement Disorders</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age Factors</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Electromyography</term>
<term>Female</term>
<term>Humans</term>
<term>Infant</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Prospective Studies</term>
<term>Retrospective Studies</term>
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<term>Dystonie</term>
<term>Homme</term>
<term>Maladie métabolique</term>
<term>Pathologie du   système nerveux</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. © 2008 Movement Disorder Society</div>
</front>
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</affiliation>
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</placeName>
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<s3>FRA</s3>
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</placeName>
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</placeName>
</affiliation>
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</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Valayannopoulos, Vassili" sort="Valayannopoulos, Vassili" uniqKey="Valayannopoulos V" first="Vassili" last="Valayannopoulos">Vassili Valayannopoulos</name>
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<s3>FRA</s3>
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</placeName>
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</placeName>
</affiliation>
<affiliation wicri:level="4"><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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<country>France</country>
<placeName><settlement type="city">Paris</settlement>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Touati, Guy" sort="Touati, Guy" uniqKey="Touati G" first="Guy" last="Touati">Guy Touati</name>
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<s3>FRA</s3>
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</placeName>
<orgName type="university">Université Paris Descartes</orgName>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Motte, Jacques" sort="Motte, Jacques" uniqKey="Motte J" first="Jacques" last="Motte">Jacques Motte</name>
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</author>
<author><name sortKey="Devos, David" sort="Devos, David" uniqKey="Devos D" first="David" last="Devos">David Devos</name>
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</author>
<author><name sortKey="Mention, Karine" sort="Mention, Karine" uniqKey="Mention K" first="Karine" last="Mention">Karine Mention</name>
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<placeName><settlement type="city">Lille</settlement>
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<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases</s1>
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<author><name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name>
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<s3>FRA</s3>
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</placeName>
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<affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Centre de référence des Maladies Héréditaires du Métabolisme, INSERM U724</s1>
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<s3>FRA</s3>
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<placeName><settlement type="city">Nancy</settlement>
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</author>
<author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
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<s2>Paris</s2>
<s3>FRA</s3>
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<sZ>2 aut.</sZ>
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<s3>FRA</s3>
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</placeName>
</affiliation>
<affiliation wicri:level="1"><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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<s3>FRA</s3>
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<country>France</country>
<placeName><settlement type="city">Paris</settlement>
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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>
<author><name sortKey="Gitiaux, Cyril" sort="Gitiaux, Cyril" uniqKey="Gitiaux C" first="Cyril" last="Gitiaux">Cyril Gitiaux</name>
<affiliation wicri:level="4"><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>
<sZ>1 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris Descartes</orgName>
<placeName><settlement type="city">Paris</settlement>
<region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name>
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<s2>Paris</s2>
<s3>FRA</s3>
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<sZ>18 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Université Pierre Marie Curie, CNRS UMR 7102, Paris VI</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kinugawa, Kiyoka" sort="Kinugawa, Kiyoka" uniqKey="Kinugawa K" first="Kiyoka" last="Kinugawa">Kiyoka Kinugawa</name>
<affiliation wicri:level="1"><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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<s3>FRA</s3>
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<sZ>18 aut.</sZ>
</inist:fA14>
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<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Flamand Rouviere, Constance" sort="Flamand Rouviere, Constance" uniqKey="Flamand Rouviere C" first="Constance" last="Flamand-Rouviere">Constance Flamand-Rouviere</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Service de Neurologie, Bicêtre, AP-HP</s1>
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<sZ>4 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
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</author>
<author><name sortKey="Boddaert, Nathalie" sort="Boddaert, Nathalie" uniqKey="Boddaert N" first="Nathalie" last="Boddaert">Nathalie Boddaert</name>
<affiliation wicri:level="4"><inist:fA14 i1="05"><s1>Université Paris-Descartes, Service de Radiologie Pédiatrique, Hôpital Necker Enfants Malades, AP-HP</s1>
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<s3>FRA</s3>
<sZ>5 aut.</sZ>
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</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>INSERM U797-INSERM-CEA, Service Hospitalier Frederic Joliot</s1>
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<s3>FRA</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="région" nuts="2">Île-de-France</region>
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</affiliation>
</author>
<author><name sortKey="Apartis, Emmanuelle" sort="Apartis, Emmanuelle" uniqKey="Apartis E" first="Emmanuelle" last="Apartis">Emmanuelle Apartis</name>
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<s2>Paris</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Valayannopoulos, Vassili" sort="Valayannopoulos, Vassili" uniqKey="Valayannopoulos V" first="Vassili" last="Valayannopoulos">Vassili Valayannopoulos</name>
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<s2>Paris</s2>
<s3>FRA</s3>
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</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris Descartes</orgName>
<placeName><settlement type="city">Paris</settlement>
<region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><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>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris Descartes</orgName>
<placeName><settlement type="city">Paris</settlement>
<region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Touati, Guy" sort="Touati, Guy" uniqKey="Touati G" first="Guy" last="Touati">Guy Touati</name>
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<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris Descartes</orgName>
<placeName><settlement type="city">Paris</settlement>
<region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Motte, Jacques" sort="Motte, Jacques" uniqKey="Motte J" first="Jacques" last="Motte">Jacques Motte</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Unité de Neurologie Pédiatrique, American Mémorial Hospital, CHU Reims</s1>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>CHU Reims</wicri:noRegion>
<wicri:noRegion>Unité de Neurologie Pédiatrique, American Mémorial Hospital, CHU Reims</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Devos, David" sort="Devos, David" uniqKey="Devos D" first="David" last="Devos">David Devos</name>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Service de Neurologie et Pathologie du Mouvement, EA 2683, IFR 114, IMPRT</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mention, Karine" sort="Mention, Karine" uniqKey="Mention K" first="Karine" last="Mention">Karine Mention</name>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Dobbelaere, Dries" sort="Dobbelaere, Dries" uniqKey="Dobbelaere D" first="Dries" last="Dobbelaere">Dries Dobbelaere</name>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name>
<affiliation wicri:level="1"><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>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name>
<affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Département de Neurologie Pédiatrique</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chabrol, Brigitte" sort="Chabrol, Brigitte" uniqKey="Chabrol B" first="Brigitte" last="Chabrol">Brigitte Chabrol</name>
<affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Service de Neurologie Pédiatrique, Centre de Référence des Maladies Héréditaires du Métabolisme, CHU La Timone</s1>
<s2>Marseille</s2>
<s3>FRA</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Marseille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Feillet, Francois" sort="Feillet, Francois" uniqKey="Feillet F" first="Francois" last="Feillet">Francois Feillet</name>
<affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Centre de référence des Maladies Héréditaires du Métabolisme, INSERM U724</s1>
<s2>Nancy</s2>
<s3>FRA</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Nancy</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié-Salpêtrière, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Université Pierre Marie Curie, CNRS UMR 7102, Paris VI</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bahi Buisson, Nadia" sort="Bahi Buisson, Nadia" uniqKey="Bahi Buisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name>
<affiliation wicri:level="4"><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>
<sZ>1 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris Descartes</orgName>
<placeName><settlement type="city">Paris</settlement>
<region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié-Salpêtrière, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2008">2008</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aciduria</term>
<term>Dystonia</term>
<term>Human</term>
<term>Language disorder</term>
<term>Metabolic diseases</term>
<term>Nervous system diseases</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term>
<term>Trouble du langage</term>
<term>Pathologie du   système nerveux</term>
<term>Acidurie</term>
<term>Homme</term>
<term>Maladie métabolique</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<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>
</front>
</TEI>
</INIST>
<ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients</title>
<author><name sortKey="Gitiaux, Cyril" sort="Gitiaux, Cyril" uniqKey="Gitiaux C" first="Cyril" last="Gitiaux">Cyril Gitiaux</name>
</author>
<author><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name>
</author>
<author><name sortKey="Kinugawa, Kiyoka" sort="Kinugawa, Kiyoka" uniqKey="Kinugawa K" first="Kiyoka" last="Kinugawa">Kiyoka Kinugawa</name>
</author>
<author><name sortKey="Flamand Ouviere, Constance" sort="Flamand Ouviere, Constance" uniqKey="Flamand Ouviere C" first="Constance" last="Flamand-Rouvière">Constance Flamand-Rouvière</name>
</author>
<author><name sortKey="Boddaert, Nathalie" sort="Boddaert, Nathalie" uniqKey="Boddaert N" first="Nathalie" last="Boddaert">Nathalie Boddaert</name>
</author>
<author><name sortKey="Apartis, Emmanuelle" sort="Apartis, Emmanuelle" uniqKey="Apartis E" first="Emmanuelle" last="Apartis">Emmanuelle Apartis</name>
</author>
<author><name sortKey="Valayannopoulos, Vassili" sort="Valayannopoulos, Vassili" uniqKey="Valayannopoulos V" first="Vassili" last="Valayannopoulos">Vassili Valayannopoulos</name>
</author>
<author><name sortKey="Touati, Guy" sort="Touati, Guy" uniqKey="Touati G" first="Guy" last="Touati">Guy Touati</name>
</author>
<author><name sortKey="Motte, Jacques" sort="Motte, Jacques" uniqKey="Motte J" first="Jacques" last="Motte">Jacques Motte</name>
</author>
<author><name sortKey="Devos, David" sort="Devos, David" uniqKey="Devos D" first="David" last="Devos">David Devos</name>
</author>
<author><name sortKey="Mention, Karine" sort="Mention, Karine" uniqKey="Mention K" first="Karine" last="Mention">Karine Mention</name>
</author>
<author><name sortKey="Dobbelaere, Dries" sort="Dobbelaere, Dries" uniqKey="Dobbelaere D" first="Dries" last="Dobbelaere">Dries Dobbelaere</name>
</author>
<author><name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name>
</author>
<author><name sortKey="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name>
</author>
<author><name sortKey="Chabrol, Brigitte" sort="Chabrol, Brigitte" uniqKey="Chabrol B" first="Brigitte" last="Chabrol">Brigitte Chabrol</name>
</author>
<author><name sortKey="Feillet, Francois" sort="Feillet, Francois" uniqKey="Feillet F" first="François" last="Feillet">François Feillet</name>
</author>
<author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
</author>
<author><name sortKey="Bahi Uisson, Nadia" sort="Bahi Uisson, Nadia" uniqKey="Bahi Uisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:6FC8BB5950EF357AEEE50E499502E5A4DAA27717</idno>
<date when="2008" year="2008">2008</date>
<idno type="doi">10.1002/mds.22313</idno>
<idno type="url">https://api.istex.fr/document/6FC8BB5950EF357AEEE50E499502E5A4DAA27717/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">002976</idno>
<idno type="wicri:Area/Istex/Curation">002976</idno>
<idno type="wicri:Area/Istex/Checkpoint">001182</idno>
<idno type="wicri:doubleKey">0885-3185:2008:Gitiaux C:spectrum:of:movement</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:18823014</idno>
<idno type="wicri:Area/PubMed/Corpus">002009</idno>
<idno type="wicri:Area/PubMed/Curation">002009</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002081</idno>
<idno type="wicri:Area/Ncbi/Merge">002354</idno>
<idno type="wicri:Area/Ncbi/Curation">002354</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">002354</idno>
<idno type="wicri:Area/Main/Merge">003204</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients</title>
<author><name sortKey="Gitiaux, Cyril" sort="Gitiaux, Cyril" uniqKey="Gitiaux C" first="Cyril" last="Gitiaux">Cyril Gitiaux</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Université Pierre Marie Curie, CNRS UMR 7102, Paris VI, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kinugawa, Kiyoka" sort="Kinugawa, Kiyoka" uniqKey="Kinugawa K" first="Kiyoka" last="Kinugawa">Kiyoka Kinugawa</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Flamand Ouviere, Constance" sort="Flamand Ouviere, Constance" uniqKey="Flamand Ouviere C" first="Constance" last="Flamand-Rouvière">Constance Flamand-Rouvière</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Service de Neurologie, Bicêtre, AP‐HP, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Boddaert, Nathalie" sort="Boddaert, Nathalie" uniqKey="Boddaert N" first="Nathalie" last="Boddaert">Nathalie Boddaert</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Université Paris‐Descartes, Service de Radiologie Pédiatrique, Hôpital Necker Enfants Malades, AP‐HP, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>INSERM U797‐INSERM‐CEA, Service Hospitalier Frederic Joliot, Orsay</wicri:regionArea>
<placeName><region type="région" nuts="2">Île-de-France</region>
<settlement type="city">Orsay</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Apartis, Emmanuelle" sort="Apartis, Emmanuelle" uniqKey="Apartis E" first="Emmanuelle" last="Apartis">Emmanuelle Apartis</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Service de Neurophysiologie Hôpital Saint‐Antoine, AP‐HP, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Valayannopoulos, Vassili" sort="Valayannopoulos, Vassili" uniqKey="Valayannopoulos V" first="Vassili" last="Valayannopoulos">Vassili Valayannopoulos</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Université Paris‐Descartes, Centre de Référence Erreurs Innées du Métabolisme, Hôpital Necker‐Enfants‐Malades, AP‐HP, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Touati, Guy" sort="Touati, Guy" uniqKey="Touati G" first="Guy" last="Touati">Guy Touati</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Motte, Jacques" sort="Motte, Jacques" uniqKey="Motte J" first="Jacques" last="Motte">Jacques Motte</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Unité de Neurologie Pédiatrique, American Memorial Hospital, CHU Reims</wicri:regionArea>
<wicri:noRegion>CHU Reims</wicri:noRegion>
<wicri:noRegion>CHU Reims</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Devos, David" sort="Devos, David" uniqKey="Devos D" first="David" last="Devos">David Devos</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Service de Neurologie et Pathologie du Mouvement, EA 2683, IFR 114, IMPRT, Lille</wicri:regionArea>
<placeName><settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mention, Karine" sort="Mention, Karine" uniqKey="Mention K" first="Karine" last="Mention">Karine Mention</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases, Lille</wicri:regionArea>
<placeName><settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Dobbelaere, Dries" sort="Dobbelaere, Dries" uniqKey="Dobbelaere D" first="Dries" last="Dobbelaere">Dries Dobbelaere</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases, Lille</wicri:regionArea>
<placeName><settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Université Pierre et Marie Curie‐Paris VI, Service de Neuropédiatrie, Hôpital Armand Trousseau, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Département de Neurologie Pédiatrique, Montpellier</wicri:regionArea>
<placeName><settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chabrol, Brigitte" sort="Chabrol, Brigitte" uniqKey="Chabrol B" first="Brigitte" last="Chabrol">Brigitte Chabrol</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Service de Neurologie Pédiatrique, Centre de Référence des Maladies Héréditaires du Métabolisme, CHU La Timone, Marseille</wicri:regionArea>
<placeName><settlement type="city">Marseille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Feillet, Francois" sort="Feillet, Francois" uniqKey="Feillet F" first="François" last="Feillet">François Feillet</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Centre de référence des Maladies Héréditaires du Métabolisme, INSERM U724, Nancy</wicri:regionArea>
<placeName><settlement type="city">Nancy</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Université Pierre Marie Curie, CNRS UMR 7102, Paris VI, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bahi Uisson, Nadia" sort="Bahi Uisson, Nadia" uniqKey="Bahi Uisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="sub">Official Journal of the Movement Disorder Society</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2008-12-15">2008-12-15</date>
<biblScope unit="vol">23</biblScope>
<biblScope unit="issue">16</biblScope>
<biblScope unit="page" from="2392">2392</biblScope>
<biblScope unit="page" to="2397">2397</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">6FC8BB5950EF357AEEE50E499502E5A4DAA27717</idno>
<idno type="DOI">10.1002/mds.22313</idno>
<idno type="ArticleID">MDS22313</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age Factors</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Electromyography</term>
<term>Female</term>
<term>Humans</term>
<term>Infant</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Movement Disorders (complications)</term>
<term>Movement Disorders (pathology)</term>
<term>Movement Disorders (physiopathology)</term>
<term>Multiple Acyl Coenzyme A Dehydrogenase Deficiency (complications)</term>
<term>Prospective Studies</term>
<term>Retrospective Studies</term>
<term>Young Adult</term>
<term>development</term>
<term>dystonia</term>
<term>metabolic disease</term>
<term>speech disorder</term>
<term>striatum</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Movement Disorders</term>
<term>Multiple Acyl Coenzyme A Dehydrogenase Deficiency</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Movement Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Movement Disorders</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age Factors</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Electromyography</term>
<term>Female</term>
<term>Humans</term>
<term>Infant</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Prospective Studies</term>
<term>Retrospective Studies</term>
<term>Young Adult</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<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. © 2008 Movement Disorder Society</div>
</front>
</TEI>
</ISTEX>
</double>
</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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