Familial dementia with frontotemporal features associated with Met146Val presenilin-1 mutation

Most of the mutations in the presenilin-1 gene (PS-1) are associated with familial Alzheimer's disease (AD). However, certain examples can be associated with frontotemporal dementia (FTD). We performed a clinical evaluation of individuals belonging to a family with the FTD phenotype, and additi...

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Autores: Riudavets, Miguel Angel, Bartoloni, Leonardo, Troncoso, Juan C., Pletnikova, Olga, St. George Hyslop, Peter, Schultz, Marcelo, Sevlever, Gustavo, Allegri, Ricardo Francisco
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2013
País:Argentina
Institución:Consejo Nacional de Investigaciones Científicas y Técnicas
Repositorio:CONICET Digital (CONICET)
Idioma:inglés
OAI Identifier:oai:ri.conicet.gov.ar:11336/25468
Acceso en línea:http://hdl.handle.net/11336/25468
Access Level:acceso abierto
Palabra clave:Frontotemporal
Alzheimer'S Disease
Presenilin 1
Pick Bodies
Ftd
M146v
Oligodendrocytes
Ps-1 Mutations
https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
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repository_id_str
spelling Familial dementia with frontotemporal features associated with Met146Val presenilin-1 mutationRiudavets, Miguel AngelBartoloni, LeonardoTroncoso, Juan C.Pletnikova, OlgaSt. George Hyslop, PeterSchultz, MarceloSevlever, GustavoAllegri, Ricardo FranciscoFrontotemporalAlzheimer'S DiseasePresenilin 1Pick BodiesFtdM146vOligodendrocytesPs-1 Mutationshttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Most of the mutations in the presenilin-1 gene (PS-1) are associated with familial Alzheimer's disease (AD). However, certain examples can be associated with frontotemporal dementia (FTD). We performed a clinical evaluation of individuals belonging to a family with the FTD phenotype, and additional molecular studies and neuropathological assessment of the proband. The PS-1 M146V mutation was found in the 50-year-old subject (the proband) with family history of early-onset FTD. Neuropathological examination showed abundant amyloid plaques, widespread neurofibrillary pathology, Pick bodies in the hippocampus and cortex, cortical globose tangles and ubiquitin-positive nuclear inclusions in white matter oligodendrocytes. We report a kindred with clinical features of FTD, whose proband bore the PS-1 M146V mutation and showed diffuse Alzheimer's type pathology and Pick bodies on post-mortem neuropathological examination. As with other mutations within the same codon, this substitution may predispose to both diseases by affecting APP and/or tau processing.Fil: Riudavets, Miguel Angel. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; ArgentinaFil: Bartoloni, Leonardo. Gobierno de la Ciudad de Buenos Aires. Hospital "Dr. Abel Zubizarreta"; ArgentinaFil: Troncoso, Juan C.. University Johns Hopkins; Estados UnidosFil: Pletnikova, Olga. University Johns Hopkins; Estados UnidosFil: St. George Hyslop, Peter. University of Toronto; CanadáFil: Schultz, Marcelo. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; ArgentinaFil: Sevlever, Gustavo. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Allegri, Ricardo Francisco. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaWiley2013-04info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/25468Riudavets, Miguel Angel; Bartoloni, Leonardo; Troncoso, Juan C.; Pletnikova, Olga; St. George Hyslop, Peter; et al.; Familial dementia with frontotemporal features associated with Met146Val presenilin-1 mutation; Wiley; Brain Pathology; 23; 5; 4-2013; 595-6001015-6305CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/http://onlinelibrary.wiley.com/doi/10.1111/bpa.12051/abstractinfo:eu-repo/semantics/altIdentifier/doi/10.1111/bpa.12051info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4007155/info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2024-05-08T13:48:39Zoai:ri.conicet.gov.ar:11336/25468instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982024-05-08 13:48:40.017CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Familial dementia with frontotemporal features associated with Met146Val presenilin-1 mutation
title Familial dementia with frontotemporal features associated with Met146Val presenilin-1 mutation
spellingShingle Familial dementia with frontotemporal features associated with Met146Val presenilin-1 mutation
Riudavets, Miguel Angel
Frontotemporal
Alzheimer'S Disease
Presenilin 1
Pick Bodies
Ftd
M146v
Oligodendrocytes
Ps-1 Mutations
https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
title_short Familial dementia with frontotemporal features associated with Met146Val presenilin-1 mutation
title_full Familial dementia with frontotemporal features associated with Met146Val presenilin-1 mutation
title_fullStr Familial dementia with frontotemporal features associated with Met146Val presenilin-1 mutation
title_full_unstemmed Familial dementia with frontotemporal features associated with Met146Val presenilin-1 mutation
title_sort Familial dementia with frontotemporal features associated with Met146Val presenilin-1 mutation
dc.creator.none.fl_str_mv Riudavets, Miguel Angel
Bartoloni, Leonardo
Troncoso, Juan C.
Pletnikova, Olga
St. George Hyslop, Peter
Schultz, Marcelo
Sevlever, Gustavo
Allegri, Ricardo Francisco
author Riudavets, Miguel Angel
author_facet Riudavets, Miguel Angel
Bartoloni, Leonardo
Troncoso, Juan C.
Pletnikova, Olga
St. George Hyslop, Peter
Schultz, Marcelo
Sevlever, Gustavo
Allegri, Ricardo Francisco
author_role author
author2 Bartoloni, Leonardo
Troncoso, Juan C.
Pletnikova, Olga
St. George Hyslop, Peter
Schultz, Marcelo
Sevlever, Gustavo
Allegri, Ricardo Francisco
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Frontotemporal
Alzheimer'S Disease
Presenilin 1
Pick Bodies
Ftd
M146v
Oligodendrocytes
Ps-1 Mutations
https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
topic Frontotemporal
Alzheimer'S Disease
Presenilin 1
Pick Bodies
Ftd
M146v
Oligodendrocytes
Ps-1 Mutations
https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
description Most of the mutations in the presenilin-1 gene (PS-1) are associated with familial Alzheimer's disease (AD). However, certain examples can be associated with frontotemporal dementia (FTD). We performed a clinical evaluation of individuals belonging to a family with the FTD phenotype, and additional molecular studies and neuropathological assessment of the proband. The PS-1 M146V mutation was found in the 50-year-old subject (the proband) with family history of early-onset FTD. Neuropathological examination showed abundant amyloid plaques, widespread neurofibrillary pathology, Pick bodies in the hippocampus and cortex, cortical globose tangles and ubiquitin-positive nuclear inclusions in white matter oligodendrocytes. We report a kindred with clinical features of FTD, whose proband bore the PS-1 M146V mutation and showed diffuse Alzheimer's type pathology and Pick bodies on post-mortem neuropathological examination. As with other mutations within the same codon, this substitution may predispose to both diseases by affecting APP and/or tau processing.
publishDate 2013
dc.date.none.fl_str_mv 2013-04
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/25468
Riudavets, Miguel Angel; Bartoloni, Leonardo; Troncoso, Juan C.; Pletnikova, Olga; St. George Hyslop, Peter; et al.; Familial dementia with frontotemporal features associated with Met146Val presenilin-1 mutation; Wiley; Brain Pathology; 23; 5; 4-2013; 595-600
1015-6305
CONICET Digital
CONICET
url http://hdl.handle.net/11336/25468
identifier_str_mv Riudavets, Miguel Angel; Bartoloni, Leonardo; Troncoso, Juan C.; Pletnikova, Olga; St. George Hyslop, Peter; et al.; Familial dementia with frontotemporal features associated with Met146Val presenilin-1 mutation; Wiley; Brain Pathology; 23; 5; 4-2013; 595-600
1015-6305
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://onlinelibrary.wiley.com/doi/10.1111/bpa.12051/abstract
info:eu-repo/semantics/altIdentifier/doi/10.1111/bpa.12051
info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4007155/
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Wiley
publisher.none.fl_str_mv Wiley
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 15,228081

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