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

Bibliographic Details
Main Author: Maciel, P.
Publication Date: 2005
Other Authors: Cruz, V. T., Constante, M., Iniesta, I., Costa, Maria do Carmo, Gallati, S., Sousa, Nuno, Sequeiros, Jorge, Coutinho, P., Santos, M. M.
Format: Article
Language: eng
Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Download full: http://hdl.handle.net/1822/3939
Summary: 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.
id RCAP_2a6a9ee44b78da638ccd591d665887c3
oai_identifier_str oai:repositorium.sdum.uminho.pt:1822/3939
network_acronym_str RCAP
network_name_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository_id_str https://opendoar.ac.uk/repository/7160
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:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2024-05-11T05:30:30Zoai:repositorium.sdum.uminho.pt:1822/3939Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-28T15:20:47.643546Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
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:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron:RCAAP
instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron_str RCAAP
institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
_version_ 1833595256414666752

Similar Items