Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect

Abstract

This study shows that DYT9 and DYT18 are allelic disorders and enlarges the spectrum of GLUT1 phenotypes, now also including slowly progressive spastic paraparesis combined with PED. SLC2A1 mutations were excluded as a cause of HSP without PED in our cohort.