Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect
Weber, Y. G × Kamm, C Suls, A Kempfle, J Kotschet, K Schuele, R Wuttke, T. V Maljevic, S Liebrich, J Gasser, T Ludolph, A. C Van Paesschen, Wim Schoels, L De Jonghe, P Auburger, G Lerche, H #
Neurology vol:77 issue:10 pages:959-964
Objective: Mutations in SLC2A1, encoding the glucose transporter type 1 (GLUT1), cause a broad spectrum of neurologic disorders including classic GLUT1 deficiency syndrome, paroxysmal exercise-induced dyskinesia (PED, DYT18), and absence epilepsy. A large German/Dutch pedigree has formerly been described as paroxysmal choreoathetosis/spasticity (DYT9) and linked close to but not including the SLC2A1 locus on chromosome 1p. We tested whether 1) progressive spastic paraparesis, in addition to PED, as described in DYT9, and 2) autosomal dominant forms of hereditary spastic paraparesis (HSP) without PED are caused by SLC2A1 defects.