G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort

Detalhes bibliográficos
Autor(a) principal: Brás, José Miguel
Data de Publicação: 2005
Outros Autores: Guerreiro, Rita João, Ribeiro, Maria Helena, Januário, Cristina, Morgadinho, Ana, Oliveira, Catarina Resende, Cunha, Luís, Hardy, John, Singleton, Andrew
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10316/8415
https://doi.org/10.1002/mds.20682
Resumo: LRRK2 mutations have recently been described in families with Parkinson's disease. Here we show that one of them (G2019S) is present in 6% (7 of 124) unrelated cases of disease in a clinic-based sample series from central Portugal, but not present in 126 controls from the same population. Thus, LRRK2 mutations appear to be a common cause of typical Parkinson's disease and as such will alter clinical practice. © 2005 Movement Disorder Society
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spelling G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohortLRRK2 mutations have recently been described in families with Parkinson's disease. Here we show that one of them (G2019S) is present in 6% (7 of 124) unrelated cases of disease in a clinic-based sample series from central Portugal, but not present in 126 controls from the same population. Thus, LRRK2 mutations appear to be a common cause of typical Parkinson's disease and as such will alter clinical practice. © 2005 Movement Disorder Society2005info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://hdl.handle.net/10316/8415http://hdl.handle.net/10316/8415https://doi.org/10.1002/mds.20682engMovement Disorders. 20:12 (2005) 1653-1655Brás, José MiguelGuerreiro, Rita JoãoRibeiro, Maria HelenaJanuário, CristinaMorgadinho, AnaOliveira, Catarina ResendeCunha, LuísHardy, JohnSingleton, Andrewinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2021-09-13T10:37:10Zoai:estudogeral.uc.pt:10316/8415Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:43:34.148859Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort
title G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort
spellingShingle G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort
Brás, José Miguel
title_short G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort
title_full G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort
title_fullStr G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort
title_full_unstemmed G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort
title_sort G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort
author Brás, José Miguel
author_facet Brás, José Miguel
Guerreiro, Rita João
Ribeiro, Maria Helena
Januário, Cristina
Morgadinho, Ana
Oliveira, Catarina Resende
Cunha, Luís
Hardy, John
Singleton, Andrew
author_role author
author2 Guerreiro, Rita João
Ribeiro, Maria Helena
Januário, Cristina
Morgadinho, Ana
Oliveira, Catarina Resende
Cunha, Luís
Hardy, John
Singleton, Andrew
author2_role author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Brás, José Miguel
Guerreiro, Rita João
Ribeiro, Maria Helena
Januário, Cristina
Morgadinho, Ana
Oliveira, Catarina Resende
Cunha, Luís
Hardy, John
Singleton, Andrew
description LRRK2 mutations have recently been described in families with Parkinson's disease. Here we show that one of them (G2019S) is present in 6% (7 of 124) unrelated cases of disease in a clinic-based sample series from central Portugal, but not present in 126 controls from the same population. Thus, LRRK2 mutations appear to be a common cause of typical Parkinson's disease and as such will alter clinical practice. © 2005 Movement Disorder Society
publishDate 2005
dc.date.none.fl_str_mv 2005
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10316/8415
http://hdl.handle.net/10316/8415
https://doi.org/10.1002/mds.20682
url http://hdl.handle.net/10316/8415
https://doi.org/10.1002/mds.20682
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Movement Disorders. 20:12 (2005) 1653-1655
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
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reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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