Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients
Identifieur interne : 002976 ( Istex/Curation ); précédent : 002975; suivant : 002977Spectrum 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.
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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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France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Pierre Marie Curie, CNRS UMR 7102, Paris VI, Paris</wicri:regionArea></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"><mods:affiliation>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</mods:affiliation><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></affiliation><affiliation wicri:level="1"><mods:affiliation>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation><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></affiliation></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></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"><mods:affiliation>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</mods:affiliation><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></affiliation></author><author><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name><affiliation wicri:level="1"><mods:affiliation>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation><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></affiliation><affiliation wicri:level="1"><mods:affiliation>Université Pierre Marie Curie, CNRS UMR 7102, Paris VI, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Pierre Marie Curie, CNRS UMR 7102, Paris VI, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Kinugawa, Kiyoka" sort="Kinugawa, Kiyoka" uniqKey="Kinugawa K" first="Kiyoka" last="Kinugawa">Kiyoka Kinugawa</name><affiliation wicri:level="1"><mods:affiliation>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation><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></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"><mods:affiliation>Service de Neurologie, Bicêtre, AP‐HP, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Neurologie, Bicêtre, AP‐HP, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Boddaert, Nathalie" sort="Boddaert, Nathalie" uniqKey="Boddaert N" first="Nathalie" last="Boddaert">Nathalie Boddaert</name><affiliation wicri:level="1"><mods:affiliation>Université Paris‐Descartes, Service de Radiologie Pédiatrique, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Paris‐Descartes, Service de Radiologie Pédiatrique, Hôpital Necker Enfants Malades, AP‐HP, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>INSERM U797‐INSERM‐CEA, Service Hospitalier Frederic Joliot, Orsay, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U797‐INSERM‐CEA, Service Hospitalier Frederic Joliot, Orsay</wicri:regionArea></affiliation></author><author><name sortKey="Apartis, Emmanuelle" sort="Apartis, Emmanuelle" uniqKey="Apartis E" first="Emmanuelle" last="Apartis">Emmanuelle Apartis</name><affiliation wicri:level="1"><mods:affiliation>Service de Neurophysiologie Hôpital Saint‐Antoine, AP‐HP, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Neurophysiologie Hôpital Saint‐Antoine, AP‐HP, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Valayannopoulos, Vassili" sort="Valayannopoulos, Vassili" uniqKey="Valayannopoulos V" first="Vassili" last="Valayannopoulos">Vassili Valayannopoulos</name><affiliation wicri:level="1"><mods:affiliation>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</mods:affiliation><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></affiliation><affiliation wicri:level="1"><mods:affiliation>Université Paris‐Descartes, Centre de Référence Erreurs Innées du Métabolisme, Hôpital Necker‐Enfants‐Malades, AP‐HP, Paris, France</mods:affiliation><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></affiliation></author><author><name sortKey="Touati, Guy" sort="Touati, Guy" uniqKey="Touati G" first="Guy" last="Touati">Guy Touati</name><affiliation wicri:level="1"><mods:affiliation>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</mods:affiliation><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></affiliation></author><author><name sortKey="Motte, Jacques" sort="Motte, Jacques" uniqKey="Motte J" first="Jacques" last="Motte">Jacques Motte</name><affiliation wicri:level="1"><mods:affiliation>Unité de Neurologie Pédiatrique, American Memorial Hospital, CHU Reims, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Unité de Neurologie Pédiatrique, American Memorial Hospital, CHU Reims</wicri:regionArea></affiliation></author><author><name sortKey="Devos, David" sort="Devos, David" uniqKey="Devos D" first="David" last="Devos">David Devos</name><affiliation wicri:level="1"><mods:affiliation>Service de Neurologie et Pathologie du Mouvement, EA 2683, IFR 114, IMPRT, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Neurologie et Pathologie du Mouvement, EA 2683, IFR 114, IMPRT, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Mention, Karine" sort="Mention, Karine" uniqKey="Mention K" first="Karine" last="Mention">Karine Mention</name><affiliation wicri:level="1"><mods:affiliation>University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Dobbelaere, Dries" sort="Dobbelaere, Dries" uniqKey="Dobbelaere D" first="Dries" last="Dobbelaere">Dries Dobbelaere</name><affiliation wicri:level="1"><mods:affiliation>University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name><affiliation wicri:level="1"><mods:affiliation>Université Pierre et Marie Curie‐Paris VI, Service de Neuropédiatrie, Hôpital Armand Trousseau, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Pierre et Marie Curie‐Paris VI, Service de Neuropédiatrie, Hôpital Armand Trousseau, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name><affiliation wicri:level="1"><mods:affiliation>Département de Neurologie Pédiatrique, Montpellier, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Neurologie Pédiatrique, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Chabrol, Brigitte" sort="Chabrol, Brigitte" uniqKey="Chabrol B" first="Brigitte" last="Chabrol">Brigitte Chabrol</name><affiliation wicri:level="1"><mods:affiliation>Service de Neurologie Pédiatrique, Centre de Référence des Maladies Héréditaires du Métabolisme, CHU La Timone, Marseille, France</mods:affiliation><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></affiliation></author><author><name sortKey="Feillet, Francois" sort="Feillet, Francois" uniqKey="Feillet F" first="François" last="Feillet">François Feillet</name><affiliation wicri:level="1"><mods:affiliation>Centre de référence des Maladies Héréditaires du Métabolisme, INSERM U724, Nancy, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de référence des Maladies Héréditaires du Métabolisme, INSERM U724, Nancy</wicri:regionArea></affiliation></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><affiliation wicri:level="1"><mods:affiliation>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation><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></affiliation><affiliation wicri:level="1"><mods:affiliation>Université Pierre Marie Curie, CNRS UMR 7102, Paris VI, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Pierre Marie Curie, CNRS UMR 7102, Paris VI, Paris</wicri:regionArea></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"><mods:affiliation>Université Paris‐Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP‐HP, Paris, France</mods:affiliation><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></affiliation><affiliation wicri:level="1"><mods:affiliation>Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation><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></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></record>Pour manipuler ce document sous Unix (Dilib)
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