Τίτλος:
Paroxysmal non-kinesigenic dyskinesia due to a PNKD recurrent mutation: Report of two Southern European families
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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. © 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Συγγραφείς:
Pons, R.
Cuenca-León, E.
Miravet, E.
Pons, M.
Xaidara, A.
Youroukos, S.
MacAya, A.
Περιοδικό:
European Journal of Paediatric Neurology
Λέξεις-κλειδιά:
alcohol; etiracetam; valproic acid, article; autosomal dominant disorder; case report; child; chorea; coffee; dyskinesia; familial disease; fatigue; female; gene; gene mutation; human; male; menstruation; penetrance; PNKD gene; priority journal; Southern Europe; stress; treatment response, Adolescent; Child, Preschool; Chorea; Europe; European Continental Ancestry Group; Female; Genetic Predisposition to Disease; Humans; Infant; Male; Muscle Proteins; Pedigree; Point Mutation; Young Adult
DOI:
10.1016/j.ejpn.2011.09.008
