Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients
Identifieur interne : 000278 ( France/Analysis ); précédent : 000277; suivant : 000279Spectrum 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.
Descripteurs français
- Pascal (Inist)
- 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:
DOI: 10.1002/mds.22313
Affiliations:
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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>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></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><keywords scheme="Pascal" xml:lang="fr"><term>Acidurie</term><term>Dystonie</term><term>Homme</term><term>Maladie métabolique</term><term>Pathologie du système nerveux</term><term>Trouble du langage</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</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><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></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 Uisson, Nadia" sort="Bahi Uisson, Nadia" uniqKey="Bahi Uisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name><name sortKey="Bahi Uisson, Nadia" sort="Bahi Uisson, Nadia" uniqKey="Bahi Uisson 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="François" last="Feillet">François Feillet</name><name sortKey="Flamand Ouviere, Constance" sort="Flamand Ouviere, Constance" uniqKey="Flamand Ouviere C" first="Constance" last="Flamand-Rouvière">Constance Flamand-Rouvière</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>Pour manipuler ce document sous Unix (Dilib)
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