Familial paroxysmal kinesigenic choreoathetosis. Report of a pharmacological trial in 2 cases

Abstract

2 cases of familial paroxysmal kinesigenic choreoathetosis are described. The results of a pharmacological trial with phenobarbital, valproic acid, diazepam, iota-Dopa plus carbidopa, and haloperidol are reported. Phenobarbital is the only effective drug. On this basis the pathophysiological mechanisms of this rare disorder are briefly discussed.