Monozygotic twin sisters discordant for familial hemiplegic migraine
Autor(a) principal: | |
---|---|
Data de Publicação: | 2013 |
Outros Autores: | , , , , , , , , |
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. |
id |
RCAP_6c96200e63071b2853c5de5d8585450f |
---|---|
oai_identifier_str |
oai:repositorio.chporto.pt:10400.16/1497 |
network_acronym_str |
RCAP |
network_name_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository_id_str |
7160 |
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 |
repository.mail.fl_str_mv |
|
_version_ |
1799133641052258304 |