A GLUT1 mutation in patients with spastic paraplegia and paroxysmal dyskinesia
YG Weber, C Kamm, J Kempfle, A Suls, T Wuttke, A Salvo-Vargas, A Bellan-Koch, S Maljevic, T Gasser, P DeJonge, G Auburger, H Lerche · Aktuelle Neurologie · 2009 · Heft 10
Bibliografische Angaben
Zusammenfassung
Glut1 is the glucose transporter of the blood brain barrier, thus a crucial molecule to deliver the most important energy carrier to the brain. Mutations in Glut1 have been found in Glut1-deficiency syndrome, a severe syndrome of early childhood with drug resistant epilepsy, microcephaly and progressive mental retardation. Recently, we detected mutations in Glut1 in patients with paroxysmal exercise-induced dyskinesia. Previously, Auburger and colleagues described a family with paroxysmal dyskinesia in combination with mild gait ataxia and constant spastic paraplegia in some patients (CSE, DYT9; Genomics 1996; 3…
