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

Neurology - 6 Sept 2011

Weber Y G, Kamm C, Suls A, Kempfle J, Kotschet K, Schüle R, Wuttke T V, Maljevic S, Liebrich J, Gasser T, Ludolph A C, Van Paesschen W, Schöls L, De Jonghe P, Auburger G, Lerche H

Abstract excerpt

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...

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PMID: 21832227
DOI: 10.1212/WNL.0b013e31822e0479

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