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Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients

Authors

  • Cyril Gitiaux MD,

    1. Université Paris-Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP-HP, Paris, France
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    • The First two authors contributed equally to this work.

  • Emmanuel Roze MD, PhD,

    Corresponding author
    1. Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié-Salpêtrière, AP-HP, Paris, France
    2. Université Pierre Marie Curie, CNRS UMR 7102, Paris VI, Paris, France
    • Service de Neurologie, Hôpital de la Salpêtrière, 47-83 Bd de l'Hôpital, 75013 Paris, France
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    • The First two authors contributed equally to this work.

  • Kiyoka Kinugawa MD,

    1. Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié-Salpêtrière, AP-HP, Paris, France
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  • Constance Flamand-Rouvière ST,

    1. Service de Neurologie, Bicêtre, AP-HP, Paris, France
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  • Nathalie Boddaert MD, PhD,

    1. Université Paris-Descartes, Service de Radiologie Pédiatrique, Hôpital Necker Enfants Malades, AP-HP, Paris, France
    2. INSERM U797-INSERM-CEA, Service Hospitalier Frederic Joliot, Orsay, France
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  • Emmanuelle Apartis MD, PhD,

    1. Service de Neurophysiologie Hôpital Saint-Antoine, AP-HP, Paris, France
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  • Vassili Valayannopoulos MD,

    1. Université Paris-Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP-HP, Paris, France
    2. Université Paris-Descartes, Centre de Référence Erreurs Innées du Métabolisme, Hôpital Necker-Enfants-Malades, AP-HP, Paris, France
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  • Guy Touati MD,

    1. Université Paris-Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP-HP, Paris, France
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  • Jacques Motte MD, PhD,

    1. Unité de Neurologie Pédiatrique, American Memorial Hospital, CHU Reims, France
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  • David Devos MD, PhD,

    1. Service de Neurologie et Pathologie du Mouvement, EA 2683, IFR 114, IMPRT, Lille, France
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  • Karine Mention MD,

    1. University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases, Lille, France
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  • Dries Dobbelaere MD, PhD,

    1. University Hospital of Lille, National Referral Center for Inherited Metabolic Diseases, Lille, France
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  • Diana Rodriguez MD, PhD,

    1. Université Pierre et Marie Curie-Paris VI, Service de Neuropédiatrie, Hôpital Armand Trousseau, Paris, France
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  • Agathe Roubertie MD, PhD,

    1. Département de Neurologie Pédiatrique, Montpellier, France
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  • Brigitte Chabrol MD, PhD,

    1. Service de Neurologie Pédiatrique, Centre de Référence des Maladies Héréditaires du Métabolisme, CHU La Timone, Marseille, France
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  • François Feillet MD, PhD,

    1. Centre de référence des Maladies Héréditaires du Métabolisme, INSERM U724, Nancy, France
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  • Marie Vidailhet MD,

    1. Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié-Salpêtrière, AP-HP, Paris, France
    2. Université Pierre Marie Curie, CNRS UMR 7102, Paris VI, Paris, France
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  • Nadia Bahi-Buisson MD, PhD

    1. Université Paris-Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP-HP, Paris, France
    2. Pôle des Maladies du Système Nerveux, Fédération de Neurologie, groupe hospitalier Pitié-Salpêtrière, AP-HP, Paris, France
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  • Potential conflict of interest: None reported.

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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