Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients.
Identifieur interne : 002354 ( Ncbi/Curation ); précédent : 002353; suivant : 002355Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients.
Auteurs : Cyril Gitiaux [France] ; 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 : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
English descriptors
- KwdEn :
- Adolescent, Adult, Age Factors, Child, Child, Preschool, Electromyography, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Movement Disorders (complications), Movement Disorders (pathology), Movement Disorders (physiopathology), Multiple Acyl Coenzyme A Dehydrogenase Deficiency (complications), Prospective Studies, Retrospective Studies, Young Adult.
- 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.
DOI: 10.1002/mds.22313
PubMed: 18823014
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type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name></author><author><name sortKey="Kinugawa, Kiyoka" sort="Kinugawa, Kiyoka" uniqKey="Kinugawa K" first="Kiyoka" last="Kinugawa">Kiyoka Kinugawa</name></author><author><name sortKey="Flamand Rouviere, Constance" sort="Flamand Rouviere, Constance" uniqKey="Flamand Rouviere C" first="Constance" last="Flamand-Rouvière">Constance Flamand-Rouvière</name></author><author><name sortKey="Boddaert, Nathalie" sort="Boddaert, Nathalie" uniqKey="Boddaert N" first="Nathalie" last="Boddaert">Nathalie Boddaert</name></author><author><name sortKey="Apartis, Emmanuelle" sort="Apartis, Emmanuelle" uniqKey="Apartis E" first="Emmanuelle" last="Apartis">Emmanuelle Apartis</name></author><author><name sortKey="Valayannopoulos, Vassili" sort="Valayannopoulos, Vassili" uniqKey="Valayannopoulos V" first="Vassili" last="Valayannopoulos">Vassili Valayannopoulos</name></author><author><name sortKey="Touati, Guy" sort="Touati, Guy" uniqKey="Touati G" first="Guy" last="Touati">Guy Touati</name></author><author><name sortKey="Motte, Jacques" sort="Motte, Jacques" uniqKey="Motte J" first="Jacques" last="Motte">Jacques Motte</name></author><author><name sortKey="Devos, David" sort="Devos, David" uniqKey="Devos D" first="David" last="Devos">David Devos</name></author><author><name sortKey="Mention, Karine" sort="Mention, Karine" uniqKey="Mention K" first="Karine" last="Mention">Karine Mention</name></author><author><name sortKey="Dobbelaere, Dries" sort="Dobbelaere, Dries" uniqKey="Dobbelaere D" first="Dries" last="Dobbelaere">Dries Dobbelaere</name></author><author><name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name></author><author><name sortKey="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name></author><author><name sortKey="Chabrol, Brigitte" sort="Chabrol, Brigitte" uniqKey="Chabrol B" first="Brigitte" last="Chabrol">Brigitte Chabrol</name></author><author><name sortKey="Feillet, Francois" sort="Feillet, Francois" uniqKey="Feillet F" first="François" last="Feillet">François Feillet</name></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name></author><author><name sortKey="Bahi Buisson, Nadia" sort="Bahi Buisson, Nadia" uniqKey="Bahi Buisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age Factors</term><term>Child</term><term>Child, Preschool</term><term>Electromyography</term><term>Female</term><term>Humans</term><term>Infant</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Movement Disorders (complications)</term><term>Movement Disorders (pathology)</term><term>Movement Disorders (physiopathology)</term><term>Multiple Acyl Coenzyme A Dehydrogenase Deficiency (complications)</term><term>Prospective Studies</term><term>Retrospective Studies</term><term>Young Adult</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Movement Disorders</term><term>Multiple Acyl Coenzyme A Dehydrogenase Deficiency</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Movement Disorders</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Movement Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age Factors</term><term>Child</term><term>Child, Preschool</term><term>Electromyography</term><term>Female</term><term>Humans</term><term>Infant</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Prospective Studies</term><term>Retrospective Studies</term><term>Young Adult</term></keywords></textClass></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></record>Pour manipuler ce document sous Unix (Dilib)
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