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 diso...

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Veröffentlicht in:European journal of paediatric neurology 2013-05, Vol.17 (3), p.254-258
Hauptverfasser: Castiglioni, Claudia, López, Isabel, Riant, Florence, Bertini, Enrico, Terracciano, Alessandra
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container_issue 3
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container_title European journal of paediatric neurology
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creator Castiglioni, Claudia
López, Isabel
Riant, Florence
Bertini, Enrico
Terracciano, Alessandra
description 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.
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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.</description><identifier>ISSN: 1090-3798</identifier><identifier>EISSN: 1532-2130</identifier><identifier>DOI: 10.1016/j.ejpn.2012.10.010</identifier><identifier>PMID: 23182655</identifier><language>eng</language><publisher>England: Elsevier Ltd</publisher><subject>Adult ; Athetosis ; Chorea - epidemiology ; Chorea - genetics ; Comorbidity ; Diseases in Twins - genetics ; Genotype ; Hemiplegic migraine ; Humans ; Male ; Membrane Proteins - genetics ; Migraine Disorders - epidemiology ; Migraine Disorders - genetics ; Movement disorders ; Mutation - genetics ; Nerve Tissue Proteins - genetics ; Neurogenetics ; Neurology ; Paroxysmal kinesigenic dyskinesia ; Pediatrics ; Pedigree ; Twins, Monozygotic ; Young Adult</subject><ispartof>European journal of paediatric neurology, 2013-05, Vol.17 (3), p.254-258</ispartof><rights>European Paediatric Neurology Society</rights><rights>2012 European Paediatric Neurology Society</rights><rights>Copyright © 2012 European Paediatric Neurology Society. 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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. 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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.</description><subject>Adult</subject><subject>Athetosis</subject><subject>Chorea - epidemiology</subject><subject>Chorea - genetics</subject><subject>Comorbidity</subject><subject>Diseases in Twins - genetics</subject><subject>Genotype</subject><subject>Hemiplegic migraine</subject><subject>Humans</subject><subject>Male</subject><subject>Membrane Proteins - genetics</subject><subject>Migraine Disorders - epidemiology</subject><subject>Migraine Disorders - genetics</subject><subject>Movement disorders</subject><subject>Mutation - genetics</subject><subject>Nerve Tissue Proteins - genetics</subject><subject>Neurogenetics</subject><subject>Neurology</subject><subject>Paroxysmal kinesigenic dyskinesia</subject><subject>Pediatrics</subject><subject>Pedigree</subject><subject>Twins, Monozygotic</subject><subject>Young Adult</subject><issn>1090-3798</issn><issn>1532-2130</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNUk2L1TAUDaI4H_oHXEiWbvpMbtq8FkSQQR1hQBnHdUiT22c6bVKTdrT-elPe6MKFuEpy7jkHcs4l5BlnO864fNnvsJ_8DhiHDOwYZw_IKa8EFMAFe5jvrGGF2Df1CTlLqWeMNSXIx-QEBK9BVtUpsZ-ur2-AjsusZxc8NXpJmOikY_ixplEP9NZ5TO6A3hlq13R8aqq9pV9xdNOAhzwZ3SHqPKLO0zH48HM9hDnj83fn0xPyqNNDwqf35zn58u7tzcVlcfXx_YeLN1eFqTibi2bPjeS2050EXRsj9qXkAuuq6UoOUBqUqG0n9xbbytSstZKJLKpkC7ZrO3FOXhx9pxi-LZhmNbpkcBi0x7AkxUUF0AgQ9X9QoWwkA5CZCkeqiSGliJ2aoht1XBVnaitC9WorQm1FbFguIoue3_sv7Yj2j-R38pnw6kjAHMidw6iScegNWhfRzMoG92__13_JzeByRXq4xRVTH5boc9SKqwSKqc_bKmybwIHlTzUgfgG-ya_R</recordid><startdate>20130501</startdate><enddate>20130501</enddate><creator>Castiglioni, Claudia</creator><creator>López, Isabel</creator><creator>Riant, Florence</creator><creator>Bertini, Enrico</creator><creator>Terracciano, Alessandra</creator><general>Elsevier Ltd</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>20130501</creationdate><title>PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins</title><author>Castiglioni, Claudia ; 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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. 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subjects Adult
Athetosis
Chorea - epidemiology
Chorea - genetics
Comorbidity
Diseases in Twins - genetics
Genotype
Hemiplegic migraine
Humans
Male
Membrane Proteins - genetics
Migraine Disorders - epidemiology
Migraine Disorders - genetics
Movement disorders
Mutation - genetics
Nerve Tissue Proteins - genetics
Neurogenetics
Neurology
Paroxysmal kinesigenic dyskinesia
Pediatrics
Pedigree
Twins, Monozygotic
Young Adult
title PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins
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