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A novel mutation in PSEN1 (p.T119I) in an Argentine family with early- and late-onset Alzheimer's disease

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dc.contributor.author Itzcovich, Tatiana
dc.contributor.author Chrem Méndez, Patricio Alexis
dc.contributor.author Vázquez, Silvia
dc.contributor.author Barbieri-Kennedy, Micaela
dc.contributor.author Niikado, Matías
dc.contributor.author Martinetto, Horacio
dc.contributor.author Allegri, Ricardo Francisco
dc.contributor.author Sevlever, Gustavo Emilio
dc.contributor.author Surace, Ezequiel Ignacio
dc.date.accessioned 2020-01-03T13:35:49Z
dc.date.available 2020-01-03T13:35:49Z
dc.date.issued 2020-01
dc.identifier.citation Itzcovich, T., Chrem-Méndez, P., Vázquez, S., Barbieri-Kennedy, M., Niikado, M., Martinetto, H., Allegri, R., Sevlever, G., Surace, E.I., 2020. A novel mutation in PSEN1 (p.T119I) in an Argentine family with early- and late-onset Alzheimer’s disease. Neurobiol Aging 85, 155.e9-155.e12. en_US
dc.identifier.uri https://doi.org/10.1016/j.neurobiolaging.2019.05.001
dc.identifier.uri https://repositorio.fleni.org.ar/handle/123456789/150
dc.description.abstract Mutations inPSEN1are the most common cause of early-onset Alzheimer’s disease (AD). In this article,we present an Argentine family with autosomal dominant early- and late-onset AD. The proband and 6family members were available for genetic testing and clinical and neuropsychological assessments.Cerebrospinalfluid biomarkers were analyzed in the proband and a cousin (mutation carrier), who alsounderwent positron emission tomography using F-18-2-fluoro-2-deoxy-D-glucose and Pittsburghcompound B. Exon sequencing ofPSEN1,PSEN2, andAPPrevealed a novel heterozygous variant inPSEN1(c.356C>T; p.T119I). Median age of onset in the family was 56 years. However, the proband’s uncleshowed initial symptoms at age 71. Although no DNA was available, he was an obligate carrier becausehis daughter (proband’s cousin) carried the mutation. Both the proband and his cousin exhibitedbiomarker evidence (cerebrospinalfluid or imaging) of underlying Alzheimer’s pathology. Overall, ourresults support that thePSEN1p.T119I variant is likely pathogenic. en_US
dc.language.iso eng en_US
dc.publisher Elsevier en_US
dc.rights info:eu-repo/semantics/openAccess
dc.rights.uri https://creativecommons.org/licenses/by/2.5/ar/
dc.subject Biomarkers en_US
dc.subject Biomarcadores en_US
dc.subject Cognitive Dysfunction en_US
dc.subject Disfunción Cognitiva en_US
dc.subject Genetics en_US
dc.subject Genética en_US
dc.subject Latin America en_US
dc.subject América Latina en_US
dc.subject Presenilin-1 en_US
dc.subject Presenilina-1 en_US
dc.title A novel mutation in PSEN1 (p.T119I) in an Argentine family with early- and late-onset Alzheimer's disease en_US
dc.type info:eu-repo/semantics/publishedVersion
dc.type info:eu-repo/semantics/article en_US
dc.description.fil Fil: Itzcovich, Tatiana. Fleni. Departamento de Neuropatología y Biología Molecular. Laboratorio de Enfermedades Neurodegenerativas; Argentina.
dc.description.fil Fil: Chrem Méndez, Patricio Alexis. Fleni. Departamento de Neurología. Servicio de Neurología Cognitiva, Neuropsicología y Neuropsiquiatría. Centro de Memoria y Envejecimiento; Argentina.
dc.description.fil Fil: Vázquez, Silvia. Fleni. Departamento de Diagnóstico por Imágenes. Centro de Imágenes Moleculares; Argentina.
dc.description.fil Fil: Barbieri-Kennedy, Micaela. Fleni. Departamento de Neuropatología y Biología Molecular. Laboratorio de Enfermedades Neurodegenerativas; Argentina.
dc.description.fil Fil: Niikado, Matías. Fleni. Departamento de Neuropatología y Biología Molecular. Laboratorio de Enfermedades Neurodegenerativas; Argentina.
dc.description.fil Fil: Martinetto, Horacio. Fleni. Departamento de Neuropatología y Biología Molecular. Laboratorio de Enfermedades Neurodegenerativas; Argentina.
dc.description.fil Fil: Allegri, Ricardo Francisco. Fleni. Departamento de Neurología. Servicio de Neurología Cognitiva, Neuropsicología y Neuropsiquiatría. Centro de Memoria y Envejecimiento; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina.
dc.description.fil Fil: Sevlever, Gustavo Emilio. Fleni. Departamento de Neuropatología y Biología Molecular. Laboratorio de Enfermedades Neurodegenerativas; Argentina.
dc.description.fil Fil: Surace, Ezequiel Ignacio. Fleni. Departamento de Neuropatología y Biología Molecular. Laboratorio de Enfermedades Neurodegenerativas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina.
dc.relation.ispartofVOLUME 85
dc.relation.ispartofPAGINATION 155.e9-155.e12
dc.relation.ispartofCOUNTRY Estados Unidos
dc.relation.ispartofCITY Nueva York
dc.relation.ispartofTITLE Neurobiology of aging
dc.relation.ispartofISSN 1558-1497
dc.type.snrd info:ar-repo/semantics/artículo es_ES


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