Genetic analysis of paroxysmal dystonic choreoathetosis (PDC/PNKD); patient and hamster model study
MOVEMENT DISORDERS
Authors: Matsuo, H.; Sander, S. E.; Hamann, M.; Richter, A.; Hamada, T.; Nakayama, A.; Utsumi, Y.; Kawamura, Y.; Onoue, H.; Kaida, K.; Kobayashi, Y.; Kamakura, K.; Shinomiya, N.
Abstract
Paroxysmal non-kinesigenic dyskinesia due to a PNKD recurrent mutation: Report of two Southern European families
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
Authors: Pons, Roser; Cuenca-Leon, Ester; Miravet, Elena; Pons, Montse; Xaidara, Athina; Youroukos, Sotiris; Macaya, Alfons
Abstract
Paroxysmal non-kinesigenic dyskinesia (PNKD) is an autosomal dominant disorder characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee, alcohol or menstruation. In this report we present two families with PNKD of Southern European origin carrying a PNKD recurrent mutation. Incomplete penetrance and intrafamilial variability was detected in both families. Treatment with valproic acid and levetiracetam provided favorable response. (C) 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
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