Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients
Autor(a) principal: | |
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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=S0004-282X2014000900659 |
Resumo: | Spinocerebellar ataxia type 3 (SCA3) involves cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems with strong phenotypic heterogeneity, that lead us to classify the disorder into different clinical subtypes according to the predominantly affected motor systems. Method The series comprises 167 SCA3 patients belonging to 68 pedigrees, studied from 1989-2013. These patients were categorized into seven different subphenotypes. Results SCA3 cases were clustered according to the predominant clinical features. Three most common forms were subphenotype 2, characterized by ataxia and pyramidal symptom was observed in 67.5%, subphenotype 3 with ataxia and peripheral signs in 13.3%, and subphenotype 6 with pure cerebellar syndrome in 7.2%. Conclusion Our study was the first to systematically classify SCA3 into seven subphenotypes. This classification may be particularly useful for determination of a more specific and direct phenotype/genotype correlation in future studies. |
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Arquivos de neuro-psiquiatria (Online) |
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Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patientsMachado-Joseph diseasesubphenotypesspinocerebellar ataxia type 3Spinocerebellar ataxia type 3 (SCA3) involves cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems with strong phenotypic heterogeneity, that lead us to classify the disorder into different clinical subtypes according to the predominantly affected motor systems. Method The series comprises 167 SCA3 patients belonging to 68 pedigrees, studied from 1989-2013. These patients were categorized into seven different subphenotypes. Results SCA3 cases were clustered according to the predominant clinical features. Three most common forms were subphenotype 2, characterized by ataxia and pyramidal symptom was observed in 67.5%, subphenotype 3 with ataxia and peripheral signs in 13.3%, and subphenotype 6 with pure cerebellar syndrome in 7.2%. Conclusion Our study was the first to systematically classify SCA3 into seven subphenotypes. This classification may be particularly useful for determination of a more specific and direct phenotype/genotype correlation in future studies. Academia Brasileira de Neurologia - ABNEURO2014-09-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014000900659Arquivos de Neuro-Psiquiatria v.72 n.9 2014reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/0004-282X20140129info:eu-repo/semantics/openAccessMoro,AdrianaMunhoz,Renato P.Arruda,Walter O.Raskin,SalmoMoscovich,MarianaTeive,Hélio A.G.eng2014-09-16T00:00:00Zoai:scielo:S0004-282X2014000900659Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2014-09-16T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse |
dc.title.none.fl_str_mv |
Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients |
title |
Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients |
spellingShingle |
Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients Moro,Adriana Machado-Joseph disease subphenotypes spinocerebellar ataxia type 3 |
title_short |
Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients |
title_full |
Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients |
title_fullStr |
Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients |
title_full_unstemmed |
Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients |
title_sort |
Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients |
author |
Moro,Adriana |
author_facet |
Moro,Adriana Munhoz,Renato P. Arruda,Walter O. Raskin,Salmo Moscovich,Mariana Teive,Hélio A.G. |
author_role |
author |
author2 |
Munhoz,Renato P. Arruda,Walter O. Raskin,Salmo Moscovich,Mariana Teive,Hélio A.G. |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Moro,Adriana Munhoz,Renato P. Arruda,Walter O. Raskin,Salmo Moscovich,Mariana Teive,Hélio A.G. |
dc.subject.por.fl_str_mv |
Machado-Joseph disease subphenotypes spinocerebellar ataxia type 3 |
topic |
Machado-Joseph disease subphenotypes spinocerebellar ataxia type 3 |
description |
Spinocerebellar ataxia type 3 (SCA3) involves cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems with strong phenotypic heterogeneity, that lead us to classify the disorder into different clinical subtypes according to the predominantly affected motor systems. Method The series comprises 167 SCA3 patients belonging to 68 pedigrees, studied from 1989-2013. These patients were categorized into seven different subphenotypes. Results SCA3 cases were clustered according to the predominant clinical features. Three most common forms were subphenotype 2, characterized by ataxia and pyramidal symptom was observed in 67.5%, subphenotype 3 with ataxia and peripheral signs in 13.3%, and subphenotype 6 with pure cerebellar syndrome in 7.2%. Conclusion Our study was the first to systematically classify SCA3 into seven subphenotypes. This classification may be particularly useful for determination of a more specific and direct phenotype/genotype correlation in future studies. |
publishDate |
2014 |
dc.date.none.fl_str_mv |
2014-09-01 |
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=S0004-282X2014000900659 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014000900659 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/0004-282X20140129 |
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.9 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 |
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