title: PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins.
abstract: PRRT2 gene mutations have recently been identified as a causative gene of Paroxysmal kinesigenic dyskinesia (PKD), a rare movement disorder characterised by the occurrence of chorea, dystonia or athetosis triggered by sudden action. Some patients have additional intermittent neurologic disorders like infantile convulsions. The association with migraine has been rarely reported in this condition. Here we report the coexistence of PKD and hemiplegic migraine in twins harbouring a heterozygous mutation in PRRT2. Two monozygotic twins manifesting PKD together with repeated episodes of migraine with some severe attacks of hemiplegic migraine have been followed and treated for more than 10 years. Molecular genetic analysis disclosed the c.649_650insC, p.R217Pfs*8 heterozygous mutation in both twins. This mutation was segregating from the mother who likewise harboured the same mutation c.649dupC although she had never manifested PKD but complained of rare common migraine attacks in her past history. The association of PKD and hemiplegic migraine has been previously reported in one large family, associated to febrile convulsions and afebrile seizures in some individuals, but our report relates this association of symptoms to a mutation in PRRT2. The co-occurrence of both hemiplegic migraine and PKD in monozygotic twins expands the phenotypic spectrum of intermittent manifestations related to PRRT2 and perhaps suggests an additional causing gene for hemiplegic migraine.
authors.affiliation: Unit of Neurology, Dept. of Pediatrics, Clínica las Condes, Lo Fontecilla 441, Las Condes, Santiago, Chile. ccastiglioni@clc.cl
authors.forename: Claudia
authors.initials: C
authors.lastname: Castiglioni
authors.forename: Isabel
authors.initials: I
authors.lastname: López
authors.forename: Florence
authors.initials: F
authors.lastname: Riant
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.forename: Alessandra
authors.initials: A
authors.lastname: Terracciano
mesh_terms: D000328:Adult; D002819:Chorea / Q000453:epidemiology / Q000235:genetics*; D015897:Comorbidity; D004200:Diseases in Twins / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008881:Migraine Disorders / Q000453:epidemiology / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D014430:Twins, Monozygotic; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human