MovDisordV3, Main, Merge, bibRecord, 003698

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

Identifieur interne : 003698 ( Main/Merge ); précédent : 003697; suivant : 003699

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-Rouviere [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] ; Francois Feillet [France] ; Marie Vidailhet [France] ; Nadia Bahi-Buisson [France]

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.
Wicri :
- topic : Homme.

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.

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Le document en format XML

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<author><name sortKey="Motte, Jacques" sort="Motte, Jacques" uniqKey="Motte J" first="Jacques" last="Motte">Jacques Motte</name>
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<author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
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<author><name sortKey="Bahi Buisson, Nadia" sort="Bahi Buisson, Nadia" uniqKey="Bahi Buisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name>
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</placeName>
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<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>
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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>
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<s2>Paris</s2>
<s3>FRA</s3>
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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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<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Université Pierre Marie Curie, CNRS UMR 7102, Paris VI</s1>
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<author><name sortKey="Kinugawa, Kiyoka" sort="Kinugawa, Kiyoka" uniqKey="Kinugawa K" first="Kiyoka" last="Kinugawa">Kiyoka Kinugawa</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>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Service de Neurologie, Bicêtre, AP-HP</s1>
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<s3>FRA</s3>
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<placeName><settlement type="city">Paris</settlement>
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<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>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>5 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="06"><s1>INSERM U797-INSERM-CEA, Service Hospitalier Frederic Joliot</s1>
<s2>Orsay</s2>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="07"><s1>Service de Neurophysiologie Hôpital Saint-Antoine, AP-HP</s1>
<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>
<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>
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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>
<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="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>
<affiliations><list><country><li>France</li>
</country>
<region><li>Île-de-France</li>
</region>
<settlement><li>Lille</li>
<li>Marseille</li>
<li>Montpellier</li>
<li>Nancy</li>
<li>Orsay</li>
<li>Paris</li>
</settlement>
<orgName><li>Université Paris Descartes</li>
</orgName>
</list>
<tree><country name="France"><noRegion><name sortKey="Gitiaux, Cyril" sort="Gitiaux, Cyril" uniqKey="Gitiaux C" first="Cyril" last="Gitiaux">Cyril Gitiaux</name>
</noRegion>
<name sortKey="Apartis, Emmanuelle" sort="Apartis, Emmanuelle" uniqKey="Apartis E" first="Emmanuelle" last="Apartis">Emmanuelle Apartis</name>
<name sortKey="Bahi Buisson, Nadia" sort="Bahi Buisson, Nadia" uniqKey="Bahi Buisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name>
<name sortKey="Bahi Buisson, Nadia" sort="Bahi Buisson, Nadia" uniqKey="Bahi Buisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name>
<name sortKey="Boddaert, Nathalie" sort="Boddaert, Nathalie" uniqKey="Boddaert N" first="Nathalie" last="Boddaert">Nathalie Boddaert</name>
<name sortKey="Boddaert, Nathalie" sort="Boddaert, Nathalie" uniqKey="Boddaert N" first="Nathalie" last="Boddaert">Nathalie Boddaert</name>
<name sortKey="Chabrol, Brigitte" sort="Chabrol, Brigitte" uniqKey="Chabrol B" first="Brigitte" last="Chabrol">Brigitte Chabrol</name>
<name sortKey="Devos, David" sort="Devos, David" uniqKey="Devos D" first="David" last="Devos">David Devos</name>
<name sortKey="Dobbelaere, Dries" sort="Dobbelaere, Dries" uniqKey="Dobbelaere D" first="Dries" last="Dobbelaere">Dries Dobbelaere</name>
<name sortKey="Feillet, Francois" sort="Feillet, Francois" uniqKey="Feillet F" first="Francois" last="Feillet">Francois Feillet</name>
<name sortKey="Flamand Rouviere, Constance" sort="Flamand Rouviere, Constance" uniqKey="Flamand Rouviere C" first="Constance" last="Flamand-Rouviere">Constance Flamand-Rouviere</name>
<name sortKey="Kinugawa, Kiyoka" sort="Kinugawa, Kiyoka" uniqKey="Kinugawa K" first="Kiyoka" last="Kinugawa">Kiyoka Kinugawa</name>
<name sortKey="Mention, Karine" sort="Mention, Karine" uniqKey="Mention K" first="Karine" last="Mention">Karine Mention</name>
<name sortKey="Motte, Jacques" sort="Motte, Jacques" uniqKey="Motte J" first="Jacques" last="Motte">Jacques Motte</name>
<name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name>
<name sortKey="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name>
<name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name>
<name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name>
<name sortKey="Touati, Guy" sort="Touati, Guy" uniqKey="Touati G" first="Guy" last="Touati">Guy Touati</name>
<name sortKey="Valayannopoulos, Vassili" sort="Valayannopoulos, Vassili" uniqKey="Valayannopoulos V" first="Vassili" last="Valayannopoulos">Vassili Valayannopoulos</name>
<name sortKey="Valayannopoulos, Vassili" sort="Valayannopoulos, Vassili" uniqKey="Valayannopoulos V" first="Vassili" last="Valayannopoulos">Vassili Valayannopoulos</name>
<name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
<name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
</country>
</tree>
</affiliations>
</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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