Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients

Detalhes bibliográficos
Autor(a) principal: Moro,Adriana
Data de Publicação: 2014
Outros Autores: Munhoz,Renato P., Arruda,Walter O., Raskin,Salmo, Moscovich,Mariana, Teive,Hélio A.G.
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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spelling 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
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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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