title: Paroxysmal non-kinesigenic dyskinesia due to a PNKD recurrent mutation: report of two Southern European families.
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.
authors.affiliation: First Department of Pediatrics, Agia Sofia Hospital, University of Athens, Greece.
authors.forename: Roser
authors.initials: R
authors.lastname: Pons
authors.forename: Ester
authors.initials: E
authors.lastname: Cuenca-León
authors.forename: Elena
authors.initials: E
authors.lastname: Miravet
authors.forename: Montse
authors.initials: M
authors.lastname: Pons
authors.forename: Athina
authors.initials: A
authors.lastname: Xaidara
authors.forename: Sotiris
authors.initials: S
authors.lastname: Youroukos
authors.forename: Alfons
authors.initials: A
authors.lastname: Macaya
mesh_terms: D000293:Adolescent; D002675:Child, Preschool; D002819:Chorea / Q000188:drug therapy / Q000208:ethnology* / Q000235:genetics*; D005060:Europe; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009124:Muscle Proteins / Q000172:deficiency* / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D044465:White People / Q000235:genetics; D055815:Young Adult
chemical_list: D009124:Muscle Proteins; C495444:PNKD protein, human