Familial dementia with frontotemporal features associated with Met146Val presenilin-1 mutation
- Autores
- Riudavets, Miguel Angel; Bartoloni, Leonardo; Troncoso, Juan C.; Pletnikova, Olga; St. George Hyslop, Peter; Schultz, Marcelo; Sevlever, Gustavo; Allegri, Ricardo Francisco
- Año de publicación
- 2013
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- 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.
Fil: Riudavets, Miguel Angel. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Fil: Bartoloni, Leonardo. Gobierno de la Ciudad de Buenos Aires. Hospital "Dr. Abel Zubizarreta"; Argentina
Fil: Troncoso, Juan C.. University Johns Hopkins; Estados Unidos
Fil: Pletnikova, Olga. University Johns Hopkins; Estados Unidos
Fil: St. George Hyslop, Peter. University of Toronto; Canadá
Fil: Schultz, Marcelo. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Fil: Sevlever, Gustavo. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Allegri, Ricardo Francisco. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina - Materia
-
Frontotemporal
Alzheimer'S Disease
Presenilin 1
Pick Bodies
Ftd
M146v
Oligodendrocytes
Ps-1 Mutations - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/25468
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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 Técnicas2025-09-29T09:53:04Zoai: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:34982025-09-29 09:53:04.702CONICET 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 |
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 |
topic |
Frontotemporal Alzheimer'S Disease Presenilin 1 Pick Bodies Ftd M146v Oligodendrocytes Ps-1 Mutations |
purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.2 https://purl.org/becyt/ford/3 |
dc.description.none.fl_txt_mv |
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. Fil: Riudavets, Miguel Angel. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina Fil: Bartoloni, Leonardo. Gobierno de la Ciudad de Buenos Aires. Hospital "Dr. Abel Zubizarreta"; Argentina Fil: Troncoso, Juan C.. University Johns Hopkins; Estados Unidos Fil: Pletnikova, Olga. University Johns Hopkins; Estados Unidos Fil: St. George Hyslop, Peter. University of Toronto; Canadá Fil: Schultz, Marcelo. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina Fil: Sevlever, Gustavo. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Allegri, Ricardo Francisco. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina |
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 |
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reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
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Consejo Nacional de Investigaciones Científicas y Técnicas |
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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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