Genetic evaluation for TOR1-A (DYT1) in Brazilian patients with dystonia
Autor(a) principal: | |
---|---|
Data de Publicação: | 2014 |
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=S0004-282X2014001000753 |
Resumo: | Several genes have been mapped in families or in sporadic cases of dystonia. TOR1-A (DYT1) gene was linked to isolated dystonia. Objective To associate clinical information of patients with dystonia with the TOR1-A gene mutations. Method Eighty-eight patients with dystonia in cervical area (focal, segmental, multifocal and generalized) were recruited at Movement Disorders Clinic of Hospital de Clínicas of the Federal University of Paraná between June of 2008 and June of 2009. They were submitted to the clinical evaluation. DNA was extract from blood and submitted at analysis to TOR1-A mutations by PCR according standard protocols. Results Two patients had c.907GAGdel mutation on TOR1-A gene. These patients, with familial history of dystonia, started his symptoms by legs and had secondary generalization. Conclusion We can suggest that analysis for TOR1-A mutations should be performed only in patients with early onset, generalized and familial dystonia. |
id |
ABNEURO-1_72ba07fecc4283538cd1667cede702e6 |
---|---|
oai_identifier_str |
oai:scielo:S0004-282X2014001000753 |
network_acronym_str |
ABNEURO-1 |
network_name_str |
Arquivos de neuro-psiquiatria (Online) |
repository_id_str |
|
spelling |
Genetic evaluation for TOR1-A (DYT1) in Brazilian patients with dystoniadystoniacervical dystoniaDYT1geneticSeveral genes have been mapped in families or in sporadic cases of dystonia. TOR1-A (DYT1) gene was linked to isolated dystonia. Objective To associate clinical information of patients with dystonia with the TOR1-A gene mutations. Method Eighty-eight patients with dystonia in cervical area (focal, segmental, multifocal and generalized) were recruited at Movement Disorders Clinic of Hospital de Clínicas of the Federal University of Paraná between June of 2008 and June of 2009. They were submitted to the clinical evaluation. DNA was extract from blood and submitted at analysis to TOR1-A mutations by PCR according standard protocols. Results Two patients had c.907GAGdel mutation on TOR1-A gene. These patients, with familial history of dystonia, started his symptoms by legs and had secondary generalization. Conclusion We can suggest that analysis for TOR1-A mutations should be performed only in patients with early onset, generalized and familial dystonia. Academia Brasileira de Neurologia - ABNEURO2014-10-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014001000753Arquivos de Neuro-Psiquiatria v.72 n.10 2014reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/0004-282X20140123info:eu-repo/semantics/openAccessCamargo,Carlos Henrique F.Camargos,Sarah TeixeiraRaskin,SalmoCardoso,Francisco Eduardo C.Teive,Hélio Afonso G.eng2014-10-17T00:00:00Zoai:scielo:S0004-282X2014001000753Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2014-10-17T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse |
dc.title.none.fl_str_mv |
Genetic evaluation for TOR1-A (DYT1) in Brazilian patients with dystonia |
title |
Genetic evaluation for TOR1-A (DYT1) in Brazilian patients with dystonia |
spellingShingle |
Genetic evaluation for TOR1-A (DYT1) in Brazilian patients with dystonia Camargo,Carlos Henrique F. dystonia cervical dystonia DYT1 genetic |
title_short |
Genetic evaluation for TOR1-A (DYT1) in Brazilian patients with dystonia |
title_full |
Genetic evaluation for TOR1-A (DYT1) in Brazilian patients with dystonia |
title_fullStr |
Genetic evaluation for TOR1-A (DYT1) in Brazilian patients with dystonia |
title_full_unstemmed |
Genetic evaluation for TOR1-A (DYT1) in Brazilian patients with dystonia |
title_sort |
Genetic evaluation for TOR1-A (DYT1) in Brazilian patients with dystonia |
author |
Camargo,Carlos Henrique F. |
author_facet |
Camargo,Carlos Henrique F. Camargos,Sarah Teixeira Raskin,Salmo Cardoso,Francisco Eduardo C. Teive,Hélio Afonso G. |
author_role |
author |
author2 |
Camargos,Sarah Teixeira Raskin,Salmo Cardoso,Francisco Eduardo C. Teive,Hélio Afonso G. |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Camargo,Carlos Henrique F. Camargos,Sarah Teixeira Raskin,Salmo Cardoso,Francisco Eduardo C. Teive,Hélio Afonso G. |
dc.subject.por.fl_str_mv |
dystonia cervical dystonia DYT1 genetic |
topic |
dystonia cervical dystonia DYT1 genetic |
description |
Several genes have been mapped in families or in sporadic cases of dystonia. TOR1-A (DYT1) gene was linked to isolated dystonia. Objective To associate clinical information of patients with dystonia with the TOR1-A gene mutations. Method Eighty-eight patients with dystonia in cervical area (focal, segmental, multifocal and generalized) were recruited at Movement Disorders Clinic of Hospital de Clínicas of the Federal University of Paraná between June of 2008 and June of 2009. They were submitted to the clinical evaluation. DNA was extract from blood and submitted at analysis to TOR1-A mutations by PCR according standard protocols. Results Two patients had c.907GAGdel mutation on TOR1-A gene. These patients, with familial history of dystonia, started his symptoms by legs and had secondary generalization. Conclusion We can suggest that analysis for TOR1-A mutations should be performed only in patients with early onset, generalized and familial dystonia. |
publishDate |
2014 |
dc.date.none.fl_str_mv |
2014-10-01 |
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=S0004-282X2014001000753 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014001000753 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/0004-282X20140123 |
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.72 n.10 2014 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 |
_version_ |
1754212777109487616 |