G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort
Autor(a) principal: | |
---|---|
Data de Publicação: | 2005 |
Outros Autores: | , , , , , , , |
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 |
id |
RCAP_5ec537978b1c189cc1b8a3aef10dc088 |
---|---|
oai_identifier_str |
oai:estudogeral.uc.pt:10316/8415 |
network_acronym_str |
RCAP |
network_name_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository_id_str |
7160 |
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 |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
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 |
repository.mail.fl_str_mv |
|
_version_ |
1799133707804606464 |