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dc.contributor.author
Riudavets, Miguel Angel
dc.contributor.author
Bartoloni, Leonardo
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Troncoso, Juan C.
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Pletnikova, Olga
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St. George Hyslop, Peter
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Schultz, Marcelo
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Sevlever, Gustavo
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Allegri, Ricardo Francisco
dc.date.available
2017-09-29T19:36:15Z
dc.date.issued
2013-04
dc.identifier.citation
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
dc.identifier.issn
1015-6305
dc.identifier.uri
http://hdl.handle.net/11336/25468
dc.description.abstract
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.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Wiley
dc.rights
info:eu-repo/semantics/restrictedAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Frontotemporal
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Alzheimer'S Disease
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Presenilin 1
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Pick Bodies
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Ftd
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M146v
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Oligodendrocytes
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Ps-1 Mutations
dc.subject.classification
Reumatología
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Medicina Clínica
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Familial dementia with frontotemporal features associated with Met146Val presenilin-1 mutation
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2017-09-28T18:14:16Z
dc.journal.volume
23
dc.journal.number
5
dc.journal.pagination
595-600
dc.journal.pais
Estados Unidos
dc.journal.ciudad
Hoboken
dc.description.fil
Fil: Riudavets, Miguel Angel. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
dc.description.fil
Fil: Bartoloni, Leonardo. Gobierno de la Ciudad de Buenos Aires. Hospital "Dr. Abel Zubizarreta"; Argentina
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Fil: Troncoso, Juan C.. University Johns Hopkins; Estados Unidos
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Fil: Pletnikova, Olga. University Johns Hopkins; Estados Unidos
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Fil: St. George Hyslop, Peter. University of Toronto; Canadá
dc.description.fil
Fil: Schultz, Marcelo. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
dc.description.fil
Fil: Sevlever, Gustavo. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil
Fil: Allegri, Ricardo Francisco. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.journal.title
Brain Pathology
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/http://onlinelibrary.wiley.com/doi/10.1111/bpa.12051/abstract
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1111/bpa.12051
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4007155/


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