Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia

Detalhes bibliográficos
Autor(a) principal: Pedroso, José Luiz [UNIFESP]
Data de Publicação: 2012
Outros Autores: Braga-neto, Pedro [UNIFESP], Radvany, João, Barsottini, Orlando Graziani Povoas [UNIFESP]
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNIFESP
Texto Completo: http://dx.doi.org/10.1590/S0004-282X2012000800013
http://repositorio.unifesp.br/handle/11600/7238
Resumo: Machado-Joseph disease is an autosomal dominant inherited disorder of Azorean ancestry firstly described in 1972. Since then, several Brazilian researchers have studied clinical and genetic issues related to the disease. Nowadays, Machado-Joseph disease is considered the most common spinocerebellar ataxia worldwide. Machado-Joseph disease still has no specific therapy to arrest progression, but the unclear pathophysiological mechanism, features related to genetic characteristics, phenotype variability, apparently global involvement of the nervous system in the disease and the therapeutic challenges continue to attract investigators in the field of spinocerebellar ataxias. Brazilian researchers have distinguished themselves in the ongoing investigation seeking new knowledge about Machado-Joseph disease.
id UFSP_863d4965971dc7eba1bee3d2d46bcd63
oai_identifier_str oai:repositorio.unifesp.br/:11600/7238
network_acronym_str UFSP
network_name_str Repositório Institucional da UNIFESP
repository_id_str 3465
spelling Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxiaDoença de Machado-Joseph no Brasil: das primeiras descrições até a emergência como a ataxia espinocerebelar mais comumMachado-Joseph diseasespinocerebellar ataxiasdoença de Machado-Josephataxias espinocerebelaresMachado-Joseph disease is an autosomal dominant inherited disorder of Azorean ancestry firstly described in 1972. Since then, several Brazilian researchers have studied clinical and genetic issues related to the disease. Nowadays, Machado-Joseph disease is considered the most common spinocerebellar ataxia worldwide. Machado-Joseph disease still has no specific therapy to arrest progression, but the unclear pathophysiological mechanism, features related to genetic characteristics, phenotype variability, apparently global involvement of the nervous system in the disease and the therapeutic challenges continue to attract investigators in the field of spinocerebellar ataxias. Brazilian researchers have distinguished themselves in the ongoing investigation seeking new knowledge about Machado-Joseph disease.A doença de Machado-Joseph é uma enfermidade autossômica dominante de origem açoriana primeiramente descrita em 1972. Desde então, vários pesquisadores brasileiros têm estudado as implicações clínicas e genéticas relacionadas com a doença. Atualmente, a doença de Machado-Joseph é considerada a ataxia espinocerebelar mais frequente em todo o mundo. Ainda não há terapia específica para interromper a progressão da doença de Machado-Joseph. Mas o mecanismo fisiopatológico complexo, as características relacionadas às questões genéticas, a variabilidade fenotípica, o envolvimento global do sistema nervoso e os desafios terapêuticos continuam a atrair investigadores no campo das ataxias espinocerebelares. Pesquisadores brasileiros têm se destacado na investigação e na busca de novos conhecimentos sobre a doença Machado-Joseph.Universidade Federal de São Paulo (UNIFESP) Department of NeurologyHospital Israelita Albert EinsteinUNIFESP, Department of NeurologySciELOAcademia Brasileira de Neurologia - ABNEUROUniversidade Federal de São Paulo (UNIFESP)Hospital Israelita Albert EinsteinPedroso, José Luiz [UNIFESP]Braga-neto, Pedro [UNIFESP]Radvany, JoãoBarsottini, Orlando Graziani Povoas [UNIFESP]2015-06-14T13:44:52Z2015-06-14T13:44:52Z2012-08-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion630-632application/pdfhttp://dx.doi.org/10.1590/S0004-282X2012000800013Arquivos de Neuro-Psiquiatria. Academia Brasileira de Neurologia - ABNEURO, v. 70, n. 8, p. 630-632, 2012.10.1590/S0004-282X2012000800013S0004-282X2012000800013.pdf0004-282XS0004-282X2012000800013http://repositorio.unifesp.br/handle/11600/7238WOS:000307716600013engArquivos de Neuro-Psiquiatriainfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP2024-08-05T05:20:07Zoai:repositorio.unifesp.br/:11600/7238Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestbiblioteca.csp@unifesp.bropendoar:34652024-08-05T05:20:07Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false
dc.title.none.fl_str_mv Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia
Doença de Machado-Joseph no Brasil: das primeiras descrições até a emergência como a ataxia espinocerebelar mais comum
title Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia
spellingShingle Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia
Pedroso, José Luiz [UNIFESP]
Machado-Joseph disease
spinocerebellar ataxias
doença de Machado-Joseph
ataxias espinocerebelares
title_short Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia
title_full Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia
title_fullStr Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia
title_full_unstemmed Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia
title_sort Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia
author Pedroso, José Luiz [UNIFESP]
author_facet Pedroso, José Luiz [UNIFESP]
Braga-neto, Pedro [UNIFESP]
Radvany, João
Barsottini, Orlando Graziani Povoas [UNIFESP]
author_role author
author2 Braga-neto, Pedro [UNIFESP]
Radvany, João
Barsottini, Orlando Graziani Povoas [UNIFESP]
author2_role author
author
author
dc.contributor.none.fl_str_mv Universidade Federal de São Paulo (UNIFESP)
Hospital Israelita Albert Einstein
dc.contributor.author.fl_str_mv Pedroso, José Luiz [UNIFESP]
Braga-neto, Pedro [UNIFESP]
Radvany, João
Barsottini, Orlando Graziani Povoas [UNIFESP]
dc.subject.por.fl_str_mv Machado-Joseph disease
spinocerebellar ataxias
doença de Machado-Joseph
ataxias espinocerebelares
topic Machado-Joseph disease
spinocerebellar ataxias
doença de Machado-Joseph
ataxias espinocerebelares
description Machado-Joseph disease is an autosomal dominant inherited disorder of Azorean ancestry firstly described in 1972. Since then, several Brazilian researchers have studied clinical and genetic issues related to the disease. Nowadays, Machado-Joseph disease is considered the most common spinocerebellar ataxia worldwide. Machado-Joseph disease still has no specific therapy to arrest progression, but the unclear pathophysiological mechanism, features related to genetic characteristics, phenotype variability, apparently global involvement of the nervous system in the disease and the therapeutic challenges continue to attract investigators in the field of spinocerebellar ataxias. Brazilian researchers have distinguished themselves in the ongoing investigation seeking new knowledge about Machado-Joseph disease.
publishDate 2012
dc.date.none.fl_str_mv 2012-08-01
2015-06-14T13:44:52Z
2015-06-14T13:44:52Z
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://dx.doi.org/10.1590/S0004-282X2012000800013
Arquivos de Neuro-Psiquiatria. Academia Brasileira de Neurologia - ABNEURO, v. 70, n. 8, p. 630-632, 2012.
10.1590/S0004-282X2012000800013
S0004-282X2012000800013.pdf
0004-282X
S0004-282X2012000800013
http://repositorio.unifesp.br/handle/11600/7238
WOS:000307716600013
url http://dx.doi.org/10.1590/S0004-282X2012000800013
http://repositorio.unifesp.br/handle/11600/7238
identifier_str_mv Arquivos de Neuro-Psiquiatria. Academia Brasileira de Neurologia - ABNEURO, v. 70, n. 8, p. 630-632, 2012.
10.1590/S0004-282X2012000800013
S0004-282X2012000800013.pdf
0004-282X
S0004-282X2012000800013
WOS:000307716600013
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Arquivos de Neuro-Psiquiatria
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 630-632
application/pdf
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 reponame:Repositório Institucional da UNIFESP
instname:Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
instname_str Universidade Federal de São Paulo (UNIFESP)
instacron_str UNIFESP
institution UNIFESP
reponame_str Repositório Institucional da UNIFESP
collection Repositório Institucional da UNIFESP
repository.name.fl_str_mv Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)
repository.mail.fl_str_mv biblioteca.csp@unifesp.br
_version_ 1814268370037506048

Registros relacionados