Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families
Autor(a) principal: | |
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Data de Publicação: | 2006 |
Outros Autores: | , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Arquivos de neuro-psiquiatria (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000400001 |
Resumo: | Familial hemiplegic migraine (FHM) is a rare autosomal dominant form of migraine with aura. This disease has been associated with missense mutations in the CACNA1A and ATP1A2 genes. The aim of this study was to identify whether CACNA1A and ATP1A2 are or not related to Brazilian FHM. Here we screened four Brazilian FHM families (total of 26 individuals - 13 affected and 13 asymptomatic or normal) for mutations in both genes. We found an amino acid change in a member of family FHM-D (Arg2206Gly). However since this alteration is not present in all affected individuals and is present in one asymptomatic individual it should be considered a polymorphism. Further studies with additional families will be necessary to reveal the importance of both CACNA1A and ATP1A2 genes on the pathogeneses of FHM in Brazil and to test the third gene (SCN1A) in these FHM families. |
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Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM familiesfamilial hemiplegic migraineCACNA1AATP1A2SCN1agenemutationFamilial hemiplegic migraine (FHM) is a rare autosomal dominant form of migraine with aura. This disease has been associated with missense mutations in the CACNA1A and ATP1A2 genes. The aim of this study was to identify whether CACNA1A and ATP1A2 are or not related to Brazilian FHM. Here we screened four Brazilian FHM families (total of 26 individuals - 13 affected and 13 asymptomatic or normal) for mutations in both genes. We found an amino acid change in a member of family FHM-D (Arg2206Gly). However since this alteration is not present in all affected individuals and is present in one asymptomatic individual it should be considered a polymorphism. Further studies with additional families will be necessary to reveal the importance of both CACNA1A and ATP1A2 genes on the pathogeneses of FHM in Brazil and to test the third gene (SCN1A) in these FHM families.Academia Brasileira de Neurologia - ABNEURO2006-09-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000400001Arquivos de Neuro-Psiquiatria v.64 n.3a 2006reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X2006000400001info:eu-repo/semantics/openAccessLopes,Luciana R.Peres,Mario Fernando PrietoVanmolkot,Kaate R.J.Tobo,Patrícia R.Zukerman,EliovaFrants,Rune R.van den Maagdenberg,Arn M.J.M.Moreira-Filho,Carlos Albertoeng2006-09-28T00:00:00Zoai:scielo:S0004-282X2006000400001Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2006-09-28T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse |
dc.title.none.fl_str_mv |
Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families |
title |
Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families |
spellingShingle |
Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families Lopes,Luciana R. familial hemiplegic migraine CACNA1A ATP1A2 SCN1a gene mutation |
title_short |
Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families |
title_full |
Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families |
title_fullStr |
Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families |
title_full_unstemmed |
Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families |
title_sort |
Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families |
author |
Lopes,Luciana R. |
author_facet |
Lopes,Luciana R. Peres,Mario Fernando Prieto Vanmolkot,Kaate R.J. Tobo,Patrícia R. Zukerman,Eliova Frants,Rune R. van den Maagdenberg,Arn M.J.M. Moreira-Filho,Carlos Alberto |
author_role |
author |
author2 |
Peres,Mario Fernando Prieto Vanmolkot,Kaate R.J. Tobo,Patrícia R. Zukerman,Eliova Frants,Rune R. van den Maagdenberg,Arn M.J.M. Moreira-Filho,Carlos Alberto |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
Lopes,Luciana R. Peres,Mario Fernando Prieto Vanmolkot,Kaate R.J. Tobo,Patrícia R. Zukerman,Eliova Frants,Rune R. van den Maagdenberg,Arn M.J.M. Moreira-Filho,Carlos Alberto |
dc.subject.por.fl_str_mv |
familial hemiplegic migraine CACNA1A ATP1A2 SCN1a gene mutation |
topic |
familial hemiplegic migraine CACNA1A ATP1A2 SCN1a gene mutation |
description |
Familial hemiplegic migraine (FHM) is a rare autosomal dominant form of migraine with aura. This disease has been associated with missense mutations in the CACNA1A and ATP1A2 genes. The aim of this study was to identify whether CACNA1A and ATP1A2 are or not related to Brazilian FHM. Here we screened four Brazilian FHM families (total of 26 individuals - 13 affected and 13 asymptomatic or normal) for mutations in both genes. We found an amino acid change in a member of family FHM-D (Arg2206Gly). However since this alteration is not present in all affected individuals and is present in one asymptomatic individual it should be considered a polymorphism. Further studies with additional families will be necessary to reveal the importance of both CACNA1A and ATP1A2 genes on the pathogeneses of FHM in Brazil and to test the third gene (SCN1A) in these FHM families. |
publishDate |
2006 |
dc.date.none.fl_str_mv |
2006-09-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000400001 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000400001 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0004-282X2006000400001 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Academia Brasileira de Neurologia - ABNEURO |
publisher.none.fl_str_mv |
Academia Brasileira de Neurologia - ABNEURO |
dc.source.none.fl_str_mv |
Arquivos de Neuro-Psiquiatria v.64 n.3a 2006 reponame:Arquivos de neuro-psiquiatria (Online) instname:Academia Brasileira de Neurologia instacron:ABNEURO |
instname_str |
Academia Brasileira de Neurologia |
instacron_str |
ABNEURO |
institution |
ABNEURO |
reponame_str |
Arquivos de neuro-psiquiatria (Online) |
collection |
Arquivos de neuro-psiquiatria (Online) |
repository.name.fl_str_mv |
Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologia |
repository.mail.fl_str_mv |
||revista.arquivos@abneuro.org |
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