Leaky glucose transporters cause paroxysmal exertion-induced dyskinesia with haemolytic anaemia and epilepsy
YG Weber, A Storch, TV Wuttke, K Brockmann, J Kempfle, D Blacevic, A Pekrun, M Fauler, F Lehmann-Horn, H Lerche · Aktuelle Neurologie · 2007 · Heft 09
Bibliografische Angaben
Zusammenfassung
Paroxysmal dyskinesias are characterized by attacks of involuntary movements classified as kinesiogenic, non-kinesiogenic or exertion-induced. The pathophysiology of these syndromes is still unclear. We describe a novel autosomal dominant syndrome in a three-generation family with four affected individuals presenting with a combination of paroxysmal exertion-induced dyskinesia, hemolytic anemia and epilepsy. The syndrome was characterized by extensive clinical, genetic and experimental studies. Three individuals suffer from attacks of involuntary movements with dystonic and choreoathetotic components after heavy…
