title: Paroxysmal kinesigenic dyskinesia: cortical or non-cortical origin.
abstract: Paroxysmal kinesigenic dyskinesia (PKD) is characterized by involuntary dystonia and/or chorea triggered by a sudden movement. Cases are usually familial with an autosomal dominant inheritance. Hypotheses regarding the pathogenesis of PKD focus on the controversy whether PKD has a cortical or non-cortical origin. A combined familial trait of PKD and benign familial infantile seizures has been reported as the infantile convulsions and paroxysmal choreoathetosis (ICCA) syndrome. Here, we report a family diagnosed with ICCA syndrome with an Arg217STOP mutation. The index patient showed interictal EEG focal changes compatible with paroxysmal dystonic movements of his contralateral leg. This might support cortical involvement in PKD.
authors.affiliation: Department of Neurology, Sint Lucas Andreas Hospital, Amsterdam, The Netherlands.
authors.forename: Teun W
authors.initials: TW
authors.lastname: van Strien
authors.forename: Anne-Fleur
authors.initials: AF
authors.lastname: van Rootselaar
authors.forename: Anthony A J
authors.initials: AA
authors.lastname: Hilgevoord
authors.forename: Wim H J P
authors.initials: WH
authors.lastname: Linssen
authors.forename: Alexander J A
authors.initials: AJ
authors.lastname: Groffen
authors.forename: Marina A J
authors.initials: MA
authors.lastname: Tijssen
mesh_terms: D000293:Adolescent; D001120:Arginine / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D018388:Codon, Terminator / Q000235:genetics; D004252:DNA Mutational Analysis; D020820:Dyskinesias / Q000150:complications / Q000235:genetics / Q000473:pathology; D004421:Dystonia / Q000150:complications / Q000235:genetics / Q000473:pathology; D004569:Electroencephalography; D020936:Epilepsy, Benign Neonatal / Q000150:complications / Q000235:genetics / Q000473:pathology; D005192:Family Health; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012640:Seizures / Q000150:complications / Q000235:genetics / Q000473:pathology
chemical_list: D018388:Codon, Terminator; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human; D001120:Arginine