Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias

Detalhes bibliográficos
Autor(a) principal: Moro,Adriana
Data de Publicação: 2013
Outros Autores: Munhoz,Renato Puppi, Arruda,Walter Oleschko, Raskin,Salmo, Teive,Hélio Afonso Ghizoni
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=S0004-282X2013000700428
Resumo: ObjectiveTo investigate the relevance of the clinical finding of bulging eyes (BE) in a large Brazilian cohort of spinocerebellar ataxias (SCA), to assess its importance in clinical differential diagnosis among SCA.MethodsThree hundred sixty-nine patients from 168 Brazilian families with SCA were assessed with neurological examination and molecular genetic testing. BE was characterized by the presence of eyelid retraction. Genetically ascertained SCA3 was detected in 167 patients, SCA10 in 68 patients, SCA2 in 20, SCA1 in 9, SCA7 in 6, and SCA6 in 3 patients.ResultsBE was detected in 123 patients with SCA (33.3%), namely 109 of the 167 SCA3 patients (65.3%) and in 5 of the others SCA patients (1 SCA10 patient, 2 SCA1 patients and 2 SCA2 patients).ConclusionBE was detected in the majority of patients with SCA3 (65.3%) and could be used with a clinical tool for the differential diagnosis of SCA.
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spelling Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxiasspinocerebellar ataxiasexophthalmosMachado-Joseph diseaseObjectiveTo investigate the relevance of the clinical finding of bulging eyes (BE) in a large Brazilian cohort of spinocerebellar ataxias (SCA), to assess its importance in clinical differential diagnosis among SCA.MethodsThree hundred sixty-nine patients from 168 Brazilian families with SCA were assessed with neurological examination and molecular genetic testing. BE was characterized by the presence of eyelid retraction. Genetically ascertained SCA3 was detected in 167 patients, SCA10 in 68 patients, SCA2 in 20, SCA1 in 9, SCA7 in 6, and SCA6 in 3 patients.ResultsBE was detected in 123 patients with SCA (33.3%), namely 109 of the 167 SCA3 patients (65.3%) and in 5 of the others SCA patients (1 SCA10 patient, 2 SCA1 patients and 2 SCA2 patients).ConclusionBE was detected in the majority of patients with SCA3 (65.3%) and could be used with a clinical tool for the differential diagnosis of SCA.Academia Brasileira de Neurologia - ABNEURO2013-07-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2013000700428Arquivos de Neuro-Psiquiatria v.71 n.7 2013reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/0004-282X20130056info:eu-repo/semantics/openAccessMoro,AdrianaMunhoz,Renato PuppiArruda,Walter OleschkoRaskin,SalmoTeive,Hélio Afonso Ghizonieng2015-10-23T00:00:00Zoai:scielo:S0004-282X2013000700428Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2015-10-23T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias
title Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias
spellingShingle Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias
Moro,Adriana
spinocerebellar ataxias
exophthalmos
Machado-Joseph disease
title_short Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias
title_full Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias
title_fullStr Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias
title_full_unstemmed Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias
title_sort Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias
author Moro,Adriana
author_facet Moro,Adriana
Munhoz,Renato Puppi
Arruda,Walter Oleschko
Raskin,Salmo
Teive,Hélio Afonso Ghizoni
author_role author
author2 Munhoz,Renato Puppi
Arruda,Walter Oleschko
Raskin,Salmo
Teive,Hélio Afonso Ghizoni
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Moro,Adriana
Munhoz,Renato Puppi
Arruda,Walter Oleschko
Raskin,Salmo
Teive,Hélio Afonso Ghizoni
dc.subject.por.fl_str_mv spinocerebellar ataxias
exophthalmos
Machado-Joseph disease
topic spinocerebellar ataxias
exophthalmos
Machado-Joseph disease
description ObjectiveTo investigate the relevance of the clinical finding of bulging eyes (BE) in a large Brazilian cohort of spinocerebellar ataxias (SCA), to assess its importance in clinical differential diagnosis among SCA.MethodsThree hundred sixty-nine patients from 168 Brazilian families with SCA were assessed with neurological examination and molecular genetic testing. BE was characterized by the presence of eyelid retraction. Genetically ascertained SCA3 was detected in 167 patients, SCA10 in 68 patients, SCA2 in 20, SCA1 in 9, SCA7 in 6, and SCA6 in 3 patients.ResultsBE was detected in 123 patients with SCA (33.3%), namely 109 of the 167 SCA3 patients (65.3%) and in 5 of the others SCA patients (1 SCA10 patient, 2 SCA1 patients and 2 SCA2 patients).ConclusionBE was detected in the majority of patients with SCA3 (65.3%) and could be used with a clinical tool for the differential diagnosis of SCA.
publishDate 2013
dc.date.none.fl_str_mv 2013-07-01
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=S0004-282X2013000700428
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2013000700428
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/0004-282X20130056
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.71 n.7 2013
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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