The First two authors contributed equally to this work.
Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients†
Article first published online: 29 SEP 2008
Copyright © 2008 Movement Disorder Society
Volume 23, Issue 16, pages 2392–2397, 15 December 2008
How to Cite
Gitiaux, C., Roze, E., Kinugawa, K., Flamand-Rouvière, C., Boddaert, N., Apartis, E., Valayannopoulos, V., Touati, G., Motte, J., Devos, D., Mention, K., Dobbelaere, D., Rodriguez, D., Roubertie, A., Chabrol, B., Feillet, F., Vidailhet, M. and Bahi-Buisson, N. (2008), Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients. Mov. Disord., 23: 2392–2397. doi: 10.1002/mds.22313
Potential conflict of interest: None reported.
- Issue published online: 21 DEC 2008
- Article first published online: 29 SEP 2008
- Manuscript Accepted: 22 AUG 2008
- Manuscript Revised: 14 JUL 2008
- Manuscript Received: 13 MAY 2008
- metabolic disease;
- speech disorder;
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