Gitiaux Cyril, Roze Emmanuel, Kinugawa Kiyoka, Flamand-Rouvière Constance, Boddaert Nathalie, Apartis Emmanuelle, Valayannopoulos Vassili, Touati Guy, Motte Jacques, Devos David, Mention Karine, Dobbelaere Dries, Rodriguez Diana, Roubertie Agathe, Chabrol Brigitte, Feillet François, Vidailhet Marie, Bahi-Buisson Nadia
Université Paris-Descartes, Service de Neurologie Pédiatrique et Maladies métaboliques, Hôpital Necker Enfants Malades, AP-HP, Paris, France.
Mov Disord. 2008 Dec 15;23(16):2392-7. doi: 10.1002/mds.22313.
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.
1型戊二酸血症（GA1）是一种常染色体隐性神经代谢障碍疾病，由戊二酰辅酶A脱氢酶缺乏所致。关于GA1相关运动障碍的全面描述较为罕见。为了更精确地描述运动表型，我们前瞻性地研究了16例连续的儿童及成人GA1患者，重点关注运动障碍及其病程。在大多数患者中，叠加于基线轴性肌张力减退之上的全身性肌张力障碍在整个病程中始终是主要特征。随着年龄增长，它倾向于从可动性肌张力障碍演变为固定性肌张力障碍，并伴有运动不能 - 强直型帕金森综合征。显著的口面部受累是有运动障碍的GA1患者的一个持续特征，导致具有运动增多性构音障碍和言语失用症特征的言语障碍。在康复过程中以及治疗试验的患者选择和评估中，应考虑这种情况下运动障碍的类型和结果。
