title: Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients.
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.
authors.affiliation: Université Paris-Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP-HP, Paris, France.
authors.forename: Cyril
authors.initials: C
authors.lastname: Gitiaux
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Roze
authors.forename: Kiyoka
authors.initials: K
authors.lastname: Kinugawa
authors.forename: Constance
authors.initials: C
authors.lastname: Flamand-Rouvière
authors.forename: Nathalie
authors.initials: N
authors.lastname: Boddaert
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Apartis
authors.forename: Vassili
authors.initials: V
authors.lastname: Valayannopoulos
authors.forename: Guy
authors.initials: G
authors.lastname: Touati
authors.forename: Jacques
authors.initials: J
authors.lastname: Motte
authors.forename: David
authors.initials: D
authors.lastname: Devos
authors.forename: Karine
authors.initials: K
authors.lastname: Mention
authors.forename: Dries
authors.initials: D
authors.lastname: Dobbelaere
authors.forename: Diana
authors.initials: D
authors.lastname: Rodriguez
authors.forename: Agathe
authors.initials: A
authors.lastname: Roubertie
authors.forename: Brigitte
authors.initials: B
authors.lastname: Chabrol
authors.forename: François
authors.initials: F
authors.lastname: Feillet
authors.forename: Marie
authors.initials: M
authors.lastname: Vidailhet
authors.forename: Nadia
authors.initials: N
authors.lastname: Bahi-Buisson
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D004576:Electromyography; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009069:Movement Disorders / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D054069:Multiple Acyl Coenzyme A Dehydrogenase Deficiency / Q000150:complications*; D011446:Prospective Studies; D012189:Retrospective Studies; D055815:Young Adult