Juvenile Huntington disease in Argentina

Detalhes bibliográficos
Autor(a) principal: Gatto,Emilia Mabel
Data de Publicação: 2016
Outros Autores: Parisi,Virginia, Etcheverry,José Luis, Sanguinetti,Ana, Cordi,Lorena, Binelli,Adrian, Persi,Gabriel, Squitieri,Ferdinando
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=S0004-282X2016000100050
Resumo: ABSTRACT We analyzed demographic, clinical and genetic characteristics of juvenile Huntington disease (JHD) and it frequency in an Argentinean cohort. Age at onset was defined as the age at which behavioral, cognitive, psychiatric or motor abnormalities suggestive of JHD were first reported. Clinical and genetic data were similar to other international series, however, in this context we identified the highest JHD frequency reported so far (19.72%; 14/71). Age at onset of JHD is challenging and still under discussion. Our findings reinforce the hypothesis that clinical manifestations, other than the typical movement disorder, may anticipate age at onset of even many years. Analyses of JHD cohorts are required to explore it frequency in populations with different backgrounds to avoid an underestimation of this rare phenotype. Moreover, data from selected populations may open new pathways in therapeutic approaches and may explain new potential correlations between HD presentations and environmental or biological factors.
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spelling Juvenile Huntington disease in Argentinajuvenile Huntington diseasechoreageneticsHuntington disease prevalenceABSTRACT We analyzed demographic, clinical and genetic characteristics of juvenile Huntington disease (JHD) and it frequency in an Argentinean cohort. Age at onset was defined as the age at which behavioral, cognitive, psychiatric or motor abnormalities suggestive of JHD were first reported. Clinical and genetic data were similar to other international series, however, in this context we identified the highest JHD frequency reported so far (19.72%; 14/71). Age at onset of JHD is challenging and still under discussion. Our findings reinforce the hypothesis that clinical manifestations, other than the typical movement disorder, may anticipate age at onset of even many years. Analyses of JHD cohorts are required to explore it frequency in populations with different backgrounds to avoid an underestimation of this rare phenotype. Moreover, data from selected populations may open new pathways in therapeutic approaches and may explain new potential correlations between HD presentations and environmental or biological factors.Academia Brasileira de Neurologia - ABNEURO2016-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000100050Arquivos de Neuro-Psiquiatria v.74 n.1 2016reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/0004-282X20150192info:eu-repo/semantics/openAccessGatto,Emilia MabelParisi,VirginiaEtcheverry,José LuisSanguinetti,AnaCordi,LorenaBinelli,AdrianPersi,GabrielSquitieri,Ferdinandoeng2016-02-05T00:00:00Zoai:scielo:S0004-282X2016000100050Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2016-02-05T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv Juvenile Huntington disease in Argentina
title Juvenile Huntington disease in Argentina
spellingShingle Juvenile Huntington disease in Argentina
Gatto,Emilia Mabel
juvenile Huntington disease
chorea
genetics
Huntington disease prevalence
title_short Juvenile Huntington disease in Argentina
title_full Juvenile Huntington disease in Argentina
title_fullStr Juvenile Huntington disease in Argentina
title_full_unstemmed Juvenile Huntington disease in Argentina
title_sort Juvenile Huntington disease in Argentina
author Gatto,Emilia Mabel
author_facet Gatto,Emilia Mabel
Parisi,Virginia
Etcheverry,José Luis
Sanguinetti,Ana
Cordi,Lorena
Binelli,Adrian
Persi,Gabriel
Squitieri,Ferdinando
author_role author
author2 Parisi,Virginia
Etcheverry,José Luis
Sanguinetti,Ana
Cordi,Lorena
Binelli,Adrian
Persi,Gabriel
Squitieri,Ferdinando
author2_role author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Gatto,Emilia Mabel
Parisi,Virginia
Etcheverry,José Luis
Sanguinetti,Ana
Cordi,Lorena
Binelli,Adrian
Persi,Gabriel
Squitieri,Ferdinando
dc.subject.por.fl_str_mv juvenile Huntington disease
chorea
genetics
Huntington disease prevalence
topic juvenile Huntington disease
chorea
genetics
Huntington disease prevalence
description ABSTRACT We analyzed demographic, clinical and genetic characteristics of juvenile Huntington disease (JHD) and it frequency in an Argentinean cohort. Age at onset was defined as the age at which behavioral, cognitive, psychiatric or motor abnormalities suggestive of JHD were first reported. Clinical and genetic data were similar to other international series, however, in this context we identified the highest JHD frequency reported so far (19.72%; 14/71). Age at onset of JHD is challenging and still under discussion. Our findings reinforce the hypothesis that clinical manifestations, other than the typical movement disorder, may anticipate age at onset of even many years. Analyses of JHD cohorts are required to explore it frequency in populations with different backgrounds to avoid an underestimation of this rare phenotype. Moreover, data from selected populations may open new pathways in therapeutic approaches and may explain new potential correlations between HD presentations and environmental or biological factors.
publishDate 2016
dc.date.none.fl_str_mv 2016-01-01
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=S0004-282X2016000100050
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000100050
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/0004-282X20150192
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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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.74 n.1 2016
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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