Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients
Identifieur interne : 002976 ( Istex/Corpus ); précédent : 002975; suivant : 002977Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients
Auteurs : Cyril Gitiaux ; Emmanuel Roze ; Kiyoka Kinugawa ; Constance Flamand-Rouvière ; Nathalie Boddaert ; Emmanuelle Apartis ; Vassili Valayannopoulos ; Guy Touati ; Jacques Motte ; David Devos ; Karine Mention ; Dries Dobbelaere ; Diana Rodriguez ; Agathe Roubertie ; Brigitte Chabrol ; François Feillet ; Marie Vidailhet ; Nadia Bahi-BuissonSource :
- Movement Disorders [ 0885-3185 ] ; 2008-12-15.
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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
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DOI: 10.1002/mds.22313
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ISTEX:6FC8BB5950EF357AEEE50E499502E5A4DAA27717Le document en format XML
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Necker‐Enfants‐Malades, AP‐HP, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Touati, Guy" sort="Touati, Guy" uniqKey="Touati G" first="Guy" last="Touati">Guy Touati</name><affiliation><mods:affiliation>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Motte, Jacques" sort="Motte, Jacques" uniqKey="Motte J" first="Jacques" last="Motte">Jacques Motte</name><affiliation><mods:affiliation>Unité de Neurologie Pédiatrique, American Memorial Hospital, CHU Reims, France</mods:affiliation></affiliation></author><author><name sortKey="Devos, David" sort="Devos, David" uniqKey="Devos D" first="David" last="Devos">David Devos</name><affiliation><mods:affiliation>Service de Neurologie et Pathologie du Mouvement, EA 2683, IFR 114, IMPRT, Lille, France</mods:affiliation></affiliation></author><author><name sortKey="Mention, Karine" sort="Mention, Karine" uniqKey="Mention K" first="Karine" last="Mention">Karine Mention</name><affiliation><mods:affiliation>University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases, Lille, France</mods:affiliation></affiliation></author><author><name sortKey="Dobbelaere, Dries" sort="Dobbelaere, Dries" uniqKey="Dobbelaere D" first="Dries" last="Dobbelaere">Dries Dobbelaere</name><affiliation><mods:affiliation>University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases, Lille, France</mods:affiliation></affiliation></author><author><name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name><affiliation><mods:affiliation>Université Pierre et Marie Curie‐Paris VI, Service de Neuropédiatrie, Hôpital Armand Trousseau, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name><affiliation><mods:affiliation>Département de Neurologie Pédiatrique, Montpellier, France</mods:affiliation></affiliation></author><author><name sortKey="Chabrol, Brigitte" sort="Chabrol, Brigitte" uniqKey="Chabrol B" first="Brigitte" last="Chabrol">Brigitte Chabrol</name><affiliation><mods:affiliation>Service de Neurologie Pédiatrique, Centre de Référence des Maladies Héréditaires du Métabolisme, CHU La Timone, Marseille, France</mods:affiliation></affiliation></author><author><name sortKey="Feillet, Francois" sort="Feillet, Francois" uniqKey="Feillet F" first="François" last="Feillet">François Feillet</name><affiliation><mods:affiliation>Centre de référence des Maladies Héréditaires du Métabolisme, INSERM U724, Nancy, France</mods:affiliation></affiliation></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie 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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></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><mods:affiliation>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name><affiliation><mods:affiliation>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Université Pierre Marie Curie, CNRS UMR 7102, Paris VI, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Kinugawa, Kiyoka" sort="Kinugawa, Kiyoka" uniqKey="Kinugawa K" first="Kiyoka" last="Kinugawa">Kiyoka Kinugawa</name><affiliation><mods:affiliation>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></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><mods:affiliation>Service de Neurologie, Bicêtre, AP‐HP, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Boddaert, Nathalie" sort="Boddaert, Nathalie" uniqKey="Boddaert N" first="Nathalie" last="Boddaert">Nathalie Boddaert</name><affiliation><mods:affiliation>Université Paris‐Descartes, Service de Radiologie Pédiatrique, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>INSERM U797‐INSERM‐CEA, Service Hospitalier Frederic Joliot, Orsay, France</mods:affiliation></affiliation></author><author><name sortKey="Apartis, Emmanuelle" sort="Apartis, Emmanuelle" uniqKey="Apartis E" first="Emmanuelle" last="Apartis">Emmanuelle Apartis</name><affiliation><mods:affiliation>Service de Neurophysiologie Hôpital Saint‐Antoine, AP‐HP, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Valayannopoulos, Vassili" sort="Valayannopoulos, Vassili" uniqKey="Valayannopoulos V" first="Vassili" last="Valayannopoulos">Vassili Valayannopoulos</name><affiliation><mods:affiliation>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Université Paris‐Descartes, Centre de Référence Erreurs Innées du Métabolisme, Hôpital Necker‐Enfants‐Malades, AP‐HP, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Touati, Guy" sort="Touati, Guy" uniqKey="Touati G" first="Guy" last="Touati">Guy Touati</name><affiliation><mods:affiliation>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Motte, Jacques" sort="Motte, Jacques" uniqKey="Motte J" first="Jacques" last="Motte">Jacques Motte</name><affiliation><mods:affiliation>Unité de Neurologie Pédiatrique, American Memorial Hospital, CHU Reims, France</mods:affiliation></affiliation></author><author><name sortKey="Devos, David" sort="Devos, David" uniqKey="Devos D" first="David" last="Devos">David Devos</name><affiliation><mods:affiliation>Service de Neurologie et Pathologie du Mouvement, EA 2683, IFR 114, IMPRT, Lille, France</mods:affiliation></affiliation></author><author><name sortKey="Mention, Karine" sort="Mention, Karine" uniqKey="Mention K" first="Karine" last="Mention">Karine Mention</name><affiliation><mods:affiliation>University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases, Lille, France</mods:affiliation></affiliation></author><author><name sortKey="Dobbelaere, Dries" sort="Dobbelaere, Dries" uniqKey="Dobbelaere D" first="Dries" last="Dobbelaere">Dries Dobbelaere</name><affiliation><mods:affiliation>University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases, Lille, France</mods:affiliation></affiliation></author><author><name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name><affiliation><mods:affiliation>Université Pierre et Marie Curie‐Paris VI, Service de Neuropédiatrie, Hôpital Armand Trousseau, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name><affiliation><mods:affiliation>Département de Neurologie Pédiatrique, Montpellier, France</mods:affiliation></affiliation></author><author><name sortKey="Chabrol, Brigitte" sort="Chabrol, Brigitte" uniqKey="Chabrol B" first="Brigitte" last="Chabrol">Brigitte Chabrol</name><affiliation><mods:affiliation>Service de Neurologie Pédiatrique, Centre de Référence des Maladies Héréditaires du Métabolisme, CHU La Timone, Marseille, France</mods:affiliation></affiliation></author><author><name sortKey="Feillet, Francois" sort="Feillet, Francois" uniqKey="Feillet F" first="François" last="Feillet">François Feillet</name><affiliation><mods:affiliation>Centre de référence des Maladies Héréditaires du Métabolisme, INSERM U724, Nancy, France</mods:affiliation></affiliation></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><affiliation><mods:affiliation>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Université Pierre Marie Curie, CNRS UMR 7102, Paris VI, Paris, France</mods:affiliation></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><mods:affiliation>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation></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>development</term><term>dystonia</term><term>metabolic disease</term><term>speech disorder</term><term>striatum</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><corpusName>wiley</corpusName><author><json:item><name>Cyril Gitiaux MD</name><affiliations><json:string>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</json:string></affiliations></json:item><json:item><name>Emmanuel Roze MD, PhD</name><affiliations><json:string>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>Université Pierre Marie Curie, CNRS UMR 7102, Paris VI, Paris, France</json:string></affiliations></json:item><json:item><name>Kiyoka Kinugawa MD</name><affiliations><json:string>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string></affiliations></json:item><json:item><name>Constance Flamand‐Rouvière ST</name><affiliations><json:string>Service de Neurologie, Bicêtre, AP‐HP, Paris, France</json:string></affiliations></json:item><json:item><name>Nathalie Boddaert MD, PhD</name><affiliations><json:string>Université Paris‐Descartes, Service de Radiologie Pédiatrique, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</json:string><json:string>INSERM U797‐INSERM‐CEA, Service Hospitalier Frederic Joliot, Orsay, France</json:string></affiliations></json:item><json:item><name>Emmanuelle Apartis MD, PhD</name><affiliations><json:string>Service de Neurophysiologie Hôpital Saint‐Antoine, AP‐HP, Paris, France</json:string></affiliations></json:item><json:item><name>Vassili Valayannopoulos MD</name><affiliations><json:string>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</json:string><json:string>Université Paris‐Descartes, Centre de Référence Erreurs Innées du Métabolisme, Hôpital Necker‐Enfants‐Malades, AP‐HP, Paris, France</json:string></affiliations></json:item><json:item><name>Guy Touati MD</name><affiliations><json:string>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</json:string></affiliations></json:item><json:item><name>Jacques Motte MD, PhD</name><affiliations><json:string>Unité de Neurologie Pédiatrique, American Memorial Hospital, CHU Reims, France</json:string></affiliations></json:item><json:item><name>David Devos MD, PhD</name><affiliations><json:string>Service de Neurologie et Pathologie du Mouvement, EA 2683, IFR 114, IMPRT, Lille, France</json:string></affiliations></json:item><json:item><name>Karine Mention MD</name><affiliations><json:string>University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases, Lille, France</json:string></affiliations></json:item><json:item><name>Dries Dobbelaere MD, PhD</name><affiliations><json:string>University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases, Lille, France</json:string></affiliations></json:item><json:item><name>Diana Rodriguez MD, PhD</name><affiliations><json:string>Université Pierre et Marie Curie‐Paris VI, Service de Neuropédiatrie, Hôpital Armand Trousseau, Paris, France</json:string></affiliations></json:item><json:item><name>Agathe Roubertie MD, PhD</name><affiliations><json:string>Département de Neurologie Pédiatrique, Montpellier, France</json:string></affiliations></json:item><json:item><name>Brigitte Chabrol MD, PhD</name><affiliations><json:string>Service de Neurologie Pédiatrique, Centre de Référence des Maladies Héréditaires du Métabolisme, CHU La Timone, Marseille, France</json:string></affiliations></json:item><json:item><name>François Feillet MD, PhD</name><affiliations><json:string>Centre de référence des Maladies Héréditaires du Métabolisme, INSERM U724, Nancy, France</json:string></affiliations></json:item><json:item><name>Marie Vidailhet MD</name><affiliations><json:string>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string><json:string>Université Pierre Marie Curie, CNRS UMR 7102, Paris VI, Paris, France</json:string></affiliations></json:item><json:item><name>Nadia Bahi‐Buisson MD, PhD</name><affiliations><json:string>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</json:string><json:string>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris, France</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>dystonia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>metabolic disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>speech disorder</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>striatum</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>development</value></json:item></subject><language><json:string>eng</json:string></language><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</abstract><qualityIndicators><score>4.889</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1066</abstractCharCount><pdfWordCount>3125</pdfWordCount><pdfCharCount>21265</pdfCharCount><pdfPageCount>6</pdfPageCount><abstractWordCount>147</abstractWordCount></qualityIndicators><title>Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients</title><genre><json:string>Serial article</json:string></genre><host><volume>23</volume><pages><total>6</total><last>2397</last><first>2392</first></pages><issn><json:string>0885-3185</json:string></issn><issue>16</issue><subject><json:item><value>Research 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xml:lang="en">Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>Wiley Subscription Services, Inc., A Wiley Company</p></availability><date>2008</date></publicationStmt><notesStmt><note type="content">*Potential conflict of interest: None reported.</note></notesStmt><sourceDesc><biblStruct type="inbook"><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><persName><forename type="first">Cyril</forename><surname>Gitiaux</surname><roleName type="degree">MD</roleName></persName><note type="biography">The First two authors contributed equally to this work.</note><affiliation>The First two authors contributed equally to this work.</affiliation><affiliation>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</affiliation></author><author><persName><forename type="first">Emmanuel</forename><surname>Roze</surname><roleName type="degree">MD, PhD</roleName></persName><note type="biography">The First two authors contributed equally to this work.</note><affiliation>The First two authors contributed equally to this work.</affiliation><note type="correspondence"><p>Correspondence: Service de Neurologie, Hôpital de la Salpêtrière, 47‐83 Bd de l'Hôpital, 75013 Paris, France</p></note><affiliation>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Université Pierre Marie Curie, CNRS UMR 7102, Paris VI, Paris, France</affiliation></author><author><persName><forename type="first">Kiyoka</forename><surname>Kinugawa</surname><roleName type="degree">MD</roleName></persName><affiliation>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation></author><author><persName><forename type="first">Constance</forename><surname>Flamand‐Rouvière</surname><roleName type="degree">ST</roleName></persName><affiliation>Service de Neurologie, Bicêtre, AP‐HP, Paris, France</affiliation></author><author><persName><forename type="first">Nathalie</forename><surname>Boddaert</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Université Paris‐Descartes, Service de Radiologie Pédiatrique, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</affiliation><affiliation>INSERM U797‐INSERM‐CEA, Service Hospitalier Frederic Joliot, Orsay, France</affiliation></author><author><persName><forename type="first">Emmanuelle</forename><surname>Apartis</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Service de Neurophysiologie Hôpital Saint‐Antoine, AP‐HP, Paris, France</affiliation></author><author><persName><forename type="first">Vassili</forename><surname>Valayannopoulos</surname><roleName type="degree">MD</roleName></persName><affiliation>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</affiliation><affiliation>Université Paris‐Descartes, Centre de Référence Erreurs Innées du Métabolisme, Hôpital Necker‐Enfants‐Malades, AP‐HP, Paris, France</affiliation></author><author><persName><forename type="first">Guy</forename><surname>Touati</surname><roleName type="degree">MD</roleName></persName><affiliation>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</affiliation></author><author><persName><forename type="first">Jacques</forename><surname>Motte</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Unité de Neurologie Pédiatrique, American Memorial Hospital, CHU Reims, France</affiliation></author><author><persName><forename type="first">David</forename><surname>Devos</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Service de Neurologie et Pathologie du Mouvement, EA 2683, IFR 114, IMPRT, Lille, France</affiliation></author><author><persName><forename type="first">Karine</forename><surname>Mention</surname><roleName type="degree">MD</roleName></persName><affiliation>University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases, Lille, France</affiliation></author><author><persName><forename type="first">Dries</forename><surname>Dobbelaere</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases, Lille, France</affiliation></author><author><persName><forename type="first">Diana</forename><surname>Rodriguez</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Université Pierre et Marie Curie‐Paris VI, Service de Neuropédiatrie, Hôpital Armand Trousseau, Paris, France</affiliation></author><author><persName><forename type="first">Agathe</forename><surname>Roubertie</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Département de Neurologie Pédiatrique, Montpellier, France</affiliation></author><author><persName><forename type="first">Brigitte</forename><surname>Chabrol</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Service de Neurologie Pédiatrique, Centre de Référence des Maladies Héréditaires du Métabolisme, CHU La Timone, Marseille, France</affiliation></author><author><persName><forename type="first">François</forename><surname>Feillet</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Centre de référence des Maladies Héréditaires du Métabolisme, INSERM U724, Nancy, France</affiliation></author><author><persName><forename type="first">Marie</forename><surname>Vidailhet</surname><roleName type="degree">MD</roleName></persName><affiliation>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Université Pierre Marie Curie, CNRS UMR 7102, Paris VI, Paris, France</affiliation></author><author><persName><forename type="first">Nadia</forename><surname>Bahi‐Buisson</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</affiliation><affiliation>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation></author></analytic><monogr><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. 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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</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>dystonia</term></item><item><term>metabolic disease</term></item><item><term>speech disorder</term></item><item><term>striatum</term></item><item><term>development</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2008-05-13">Received</change><change when="2008-08-22">Registration</change><change when="2008-12-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/6FC8BB5950EF357AEEE50E499502E5A4DAA27717/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="subtitle">Official Journal of the Movement Disorder Society</title><title type="short">Mov. 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version of this article. </p></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>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</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn2"><p>Potential conflict of interest: None reported.</p></note><note xml:id="fn1"><p>The First two authors contributed equally to this work.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Movement Disorders in GA1</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients</title></titleInfo><name 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Salpêtrière, 47‐83 Bd de l'Hôpital, 75013 Paris, France</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kiyoka</namePart><namePart type="family">Kinugawa</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Constance</namePart><namePart type="family">Flamand‐Rouvière</namePart><namePart type="termsOfAddress">ST</namePart><affiliation>Service de Neurologie, Bicêtre, AP‐HP, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nathalie</namePart><namePart type="family">Boddaert</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Université Paris‐Descartes, Service de Radiologie Pédiatrique, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</affiliation><affiliation>INSERM U797‐INSERM‐CEA, Service Hospitalier Frederic Joliot, Orsay, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Emmanuelle</namePart><namePart type="family">Apartis</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Service de Neurophysiologie Hôpital Saint‐Antoine, AP‐HP, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Vassili</namePart><namePart type="family">Valayannopoulos</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</affiliation><affiliation>Université Paris‐Descartes, Centre de Référence Erreurs Innées du Métabolisme, Hôpital Necker‐Enfants‐Malades, AP‐HP, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Guy</namePart><namePart type="family">Touati</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jacques</namePart><namePart type="family">Motte</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Unité de Neurologie Pédiatrique, American Memorial Hospital, CHU Reims, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">David</namePart><namePart type="family">Devos</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Service de Neurologie et Pathologie du Mouvement, EA 2683, IFR 114, IMPRT, Lille, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Karine</namePart><namePart type="family">Mention</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases, Lille, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Dries</namePart><namePart type="family">Dobbelaere</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases, Lille, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Diana</namePart><namePart type="family">Rodriguez</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Université Pierre et Marie Curie‐Paris VI, Service de Neuropédiatrie, Hôpital Armand Trousseau, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Agathe</namePart><namePart type="family">Roubertie</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Département de Neurologie Pédiatrique, Montpellier, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Brigitte</namePart><namePart type="family">Chabrol</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Service de Neurologie Pédiatrique, Centre de Référence des Maladies Héréditaires du Métabolisme, CHU La Timone, Marseille, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">François</namePart><namePart type="family">Feillet</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Centre de référence des Maladies Héréditaires du Métabolisme, INSERM U724, Nancy, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marie</namePart><namePart type="family">Vidailhet</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><affiliation>Université Pierre Marie Curie, CNRS UMR 7102, Paris VI, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nadia</namePart><namePart type="family">Bahi‐Buisson</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</affiliation><affiliation>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2008-12-15</dateIssued><dateCaptured encoding="w3cdtf">2008-05-13</dateCaptured><dateValid encoding="w3cdtf">2008-08-22</dateValid><copyrightDate encoding="w3cdtf">2008</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">2</extent><extent unit="tables">2</extent><extent unit="references">28</extent><extent unit="words">5268</extent></physicalDescription><abstract 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</abstract><note type="content">*Potential conflict of interest: None reported.</note><subject lang="en"><genre>Keywords</genre><topic>dystonia</topic><topic>metabolic disease</topic><topic>speech disorder</topic><topic>striatum</topic><topic>development</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><note type="content"> Additional Supporting Information may be found in the online version of this article.</note><subject><genre>article category</genre><topic>Research Article</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2008</date><detail type="volume"><caption>vol.</caption><number>23</number></detail><detail type="issue"><caption>no.</caption><number>16</number></detail><extent unit="pages"><start>2392</start><end>2397</end><total>6</total></extent></part></relatedItem><identifier type="istex">6FC8BB5950EF357AEEE50E499502E5A4DAA27717</identifier><identifier type="DOI">10.1002/mds.22313</identifier><identifier type="ArticleID">MDS22313</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2008 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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