Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement

Detalhes bibliográficos
Autor(a) principal: Maciel, P.
Data de Publicação: 2005
Outros Autores: Cruz, V. T., Constante, M., Iniesta, I., Costa, Maria do Carmo, Gallati, S., Sousa, Nuno, Sequeiros, Jorge, Coutinho, P., Santos, M. M.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/1822/3939
Resumo: The authors identified a missense mutation in the FTL gene (474G>A; A96T) in a 19-year-old man with parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit, and episodic psychosis. This mutation was also present in his asymptomatic mother and younger brother, who had abnormally low levels of ferritin in the serum. The patient and his mother displayed bilateral involvement of the pallidum.
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spelling Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvementNeuroferritinopathyMissense mutationBasal gangliaScience & TechnologyThe authors identified a missense mutation in the FTL gene (474G>A; A96T) in a 19-year-old man with parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit, and episodic psychosis. This mutation was also present in his asymptomatic mother and younger brother, who had abnormally low levels of ferritin in the serum. The patient and his mother displayed bilateral involvement of the pallidum.Fundação para a Ciência e a Tecnologia/Fundo Europeu de Desenvolvimento Regional (FCT)/(FEDER) - CBO/33485/99.American Academy of Neurology (AAN)Universidade do MinhoMaciel, P.Cruz, V. T.Constante, M.Iniesta, I.Costa, Maria do CarmoGallati, S.Sousa, NunoSequeiros, JorgeCoutinho, P.Santos, M. M.2005-082005-08-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/1822/3939eng"Neurology". ISSN 0028-3878. 65:4 (2005) 603-605.0028-387810.1212/01.wnl.0000178224.81169.c216116125http://www.neurology.org/info: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:RCAAP2023-07-21T12:17:06Zoai:repositorium.sdum.uminho.pt:1822/3939Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T19:09:39.554085Repositório 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 Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement
title Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement
spellingShingle Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement
Maciel, P.
Neuroferritinopathy
Missense mutation
Basal ganglia
Science & Technology
title_short Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement
title_full Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement
title_fullStr Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement
title_full_unstemmed Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement
title_sort Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement
author Maciel, P.
author_facet Maciel, P.
Cruz, V. T.
Constante, M.
Iniesta, I.
Costa, Maria do Carmo
Gallati, S.
Sousa, Nuno
Sequeiros, Jorge
Coutinho, P.
Santos, M. M.
author_role author
author2 Cruz, V. T.
Constante, M.
Iniesta, I.
Costa, Maria do Carmo
Gallati, S.
Sousa, Nuno
Sequeiros, Jorge
Coutinho, P.
Santos, M. M.
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universidade do Minho
dc.contributor.author.fl_str_mv Maciel, P.
Cruz, V. T.
Constante, M.
Iniesta, I.
Costa, Maria do Carmo
Gallati, S.
Sousa, Nuno
Sequeiros, Jorge
Coutinho, P.
Santos, M. M.
dc.subject.por.fl_str_mv Neuroferritinopathy
Missense mutation
Basal ganglia
Science & Technology
topic Neuroferritinopathy
Missense mutation
Basal ganglia
Science & Technology
description The authors identified a missense mutation in the FTL gene (474G>A; A96T) in a 19-year-old man with parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit, and episodic psychosis. This mutation was also present in his asymptomatic mother and younger brother, who had abnormally low levels of ferritin in the serum. The patient and his mother displayed bilateral involvement of the pallidum.
publishDate 2005
dc.date.none.fl_str_mv 2005-08
2005-08-01T00:00:00Z
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/1822/3939
url http://hdl.handle.net/1822/3939
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv "Neurology". ISSN 0028-3878. 65:4 (2005) 603-605.
0028-3878
10.1212/01.wnl.0000178224.81169.c2
16116125
http://www.neurology.org/
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv American Academy of Neurology (AAN)
publisher.none.fl_str_mv American Academy of Neurology (AAN)
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
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