Monozygotic twin sisters discordant for familial hemiplegic migraine

Detalhes bibliográficos
Autor(a) principal: Barros, J.
Data de Publicação: 2013
Outros Autores: Barreto, R., Brandão, A., Domingos, J., Damásio, J., Ramos, C., Lemos, C., Sequeiros, J., Alonso, I., Pereira-Monteiro, J.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.16/1497
Resumo: Background: The high concordance rate of migraine in monozygotic twin pairs has long been recognised. In the current study, we present a monozygotic twin pair discordant for familial hemiplegic migraine (FHM). Case presentations: We evaluated 12 adult family members in 2012. The twin pair was separately examined by neurologists at different time points. Mutation screening was performed for known FHM-related genes. The monozygosity of the twins was verified. Eleven individuals had a history of migraine or paroxysmal neurological symptoms, including four patients with motor aura. No mutations were detected in the CACNA1A, ATP1A2, SCN1A, PRRT2 or NOTCH3 genes. The monozygotic twin sisters, aged 52, were discordant for age of onset, motor aura and neuropsychological aura (forced thinking). Overall, the family members presented a wide range of phenotypical features. Conclusions: Familial hemiplegic migraine is a monogenic disorder that is distinct from migraine with typical aura. However, in certain families with motor aura, such as this one, it is possible that the most severe phenotype is caused by an unlikely combination of polygenic traits and non-genetic factors. In these kindreds, we propose that hemiplegic aura is only a severe and complex form of typical aura.
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spelling Monozygotic twin sisters discordant for familial hemiplegic migraineHemiplegic migraineMigraine with typical auraMonozygotic twinsForced thinkingBackground: The high concordance rate of migraine in monozygotic twin pairs has long been recognised. In the current study, we present a monozygotic twin pair discordant for familial hemiplegic migraine (FHM). Case presentations: We evaluated 12 adult family members in 2012. The twin pair was separately examined by neurologists at different time points. Mutation screening was performed for known FHM-related genes. The monozygosity of the twins was verified. Eleven individuals had a history of migraine or paroxysmal neurological symptoms, including four patients with motor aura. No mutations were detected in the CACNA1A, ATP1A2, SCN1A, PRRT2 or NOTCH3 genes. The monozygotic twin sisters, aged 52, were discordant for age of onset, motor aura and neuropsychological aura (forced thinking). Overall, the family members presented a wide range of phenotypical features. Conclusions: Familial hemiplegic migraine is a monogenic disorder that is distinct from migraine with typical aura. However, in certain families with motor aura, such as this one, it is possible that the most severe phenotype is caused by an unlikely combination of polygenic traits and non-genetic factors. In these kindreds, we propose that hemiplegic aura is only a severe and complex form of typical aura.Springer open journalRepositório Científico do Centro Hospitalar Universitário de Santo AntónioBarros, J.Barreto, R.Brandão, A.Domingos, J.Damásio, J.Ramos, C.Lemos, C.Sequeiros, J.Alonso, I.Pereira-Monteiro, J.2013-09-26T12:05:34Z2013-09-162013-09-16T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.16/1497engBarros et al.: Monozygotic twin sisters discordant for familial hemiplegic migraine. The Journal of Headache and Pain 2013 14:771129-2377 (electronic version)info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-10-20T10:56:14Zoai:repositorio.chporto.pt:10400.16/1497Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:37:54.916216Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Monozygotic twin sisters discordant for familial hemiplegic migraine
title Monozygotic twin sisters discordant for familial hemiplegic migraine
spellingShingle Monozygotic twin sisters discordant for familial hemiplegic migraine
Barros, J.
Hemiplegic migraine
Migraine with typical aura
Monozygotic twins
Forced thinking
title_short Monozygotic twin sisters discordant for familial hemiplegic migraine
title_full Monozygotic twin sisters discordant for familial hemiplegic migraine
title_fullStr Monozygotic twin sisters discordant for familial hemiplegic migraine
title_full_unstemmed Monozygotic twin sisters discordant for familial hemiplegic migraine
title_sort Monozygotic twin sisters discordant for familial hemiplegic migraine
author Barros, J.
author_facet Barros, J.
Barreto, R.
Brandão, A.
Domingos, J.
Damásio, J.
Ramos, C.
Lemos, C.
Sequeiros, J.
Alonso, I.
Pereira-Monteiro, J.
author_role author
author2 Barreto, R.
Brandão, A.
Domingos, J.
Damásio, J.
Ramos, C.
Lemos, C.
Sequeiros, J.
Alonso, I.
Pereira-Monteiro, J.
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Centro Hospitalar Universitário de Santo António
dc.contributor.author.fl_str_mv Barros, J.
Barreto, R.
Brandão, A.
Domingos, J.
Damásio, J.
Ramos, C.
Lemos, C.
Sequeiros, J.
Alonso, I.
Pereira-Monteiro, J.
dc.subject.por.fl_str_mv Hemiplegic migraine
Migraine with typical aura
Monozygotic twins
Forced thinking
topic Hemiplegic migraine
Migraine with typical aura
Monozygotic twins
Forced thinking
description Background: The high concordance rate of migraine in monozygotic twin pairs has long been recognised. In the current study, we present a monozygotic twin pair discordant for familial hemiplegic migraine (FHM). Case presentations: We evaluated 12 adult family members in 2012. The twin pair was separately examined by neurologists at different time points. Mutation screening was performed for known FHM-related genes. The monozygosity of the twins was verified. Eleven individuals had a history of migraine or paroxysmal neurological symptoms, including four patients with motor aura. No mutations were detected in the CACNA1A, ATP1A2, SCN1A, PRRT2 or NOTCH3 genes. The monozygotic twin sisters, aged 52, were discordant for age of onset, motor aura and neuropsychological aura (forced thinking). Overall, the family members presented a wide range of phenotypical features. Conclusions: Familial hemiplegic migraine is a monogenic disorder that is distinct from migraine with typical aura. However, in certain families with motor aura, such as this one, it is possible that the most severe phenotype is caused by an unlikely combination of polygenic traits and non-genetic factors. In these kindreds, we propose that hemiplegic aura is only a severe and complex form of typical aura.
publishDate 2013
dc.date.none.fl_str_mv 2013-09-26T12:05:34Z
2013-09-16
2013-09-16T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.16/1497
url http://hdl.handle.net/10400.16/1497
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Barros et al.: Monozygotic twin sisters discordant for familial hemiplegic migraine. The Journal of Headache and Pain 2013 14:77
1129-2377 (electronic version)
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Springer open journal
publisher.none.fl_str_mv Springer open journal
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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