Repositorio Dspace

The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset

Mostrar el registro sencillo del ítem

dc.contributor.author Liu, Haiyan
dc.contributor.author Marsh, Thomas W.
dc.contributor.author Shi, Xinyu
dc.contributor.author Renton, Alan E.
dc.contributor.author Bowling, Kevin M.
dc.contributor.author Ziegemeier, Ellen
dc.contributor.author Wang, Guoqiao
dc.contributor.author Cao, Yuchen
dc.contributor.author Aristel, Alisha
dc.contributor.author Li, Jessie
dc.contributor.author Dickson, Alexa
dc.contributor.author Perrin, Richard J.
dc.contributor.author Goate, Alison M.
dc.contributor.author Fernández, Victoria
dc.contributor.author Day, Gregory S.
dc.contributor.author Doering, Michelle
dc.contributor.author Daniels, Alisha
dc.contributor.author Supnet-Bell, Charlene
dc.contributor.author Allegri, Ricardo Francisco
dc.contributor.author Chrem Méndez, Patricio Alexis
dc.date.accessioned 2025-03-13T14:10:30Z
dc.date.available 2025-03-13T14:10:30Z
dc.date.issued 2025-02-04
dc.identifier.citation Liu H, Marsh TW, Shi X, Renton AE, Bowling KM, Ziegemeier E, et al. The landscape of autosomal-dominant Alzheimer’s disease: global distribution and age of onset. Brain. 4 de febrero de 2025;awaf038 es_ES
dc.identifier.uri https://doi.org/10.1093/brain/awaf038
dc.identifier.uri https://repositorio.fleni.org.ar/xmlui/handle/123456789/1315
dc.description.abstract We present a comprehensive global analysis of genetic variants associated with autosomal-dominant Alzheimer's disease (ADAD). A total of 550 variants in the APP, PSEN1, and PSEN2 genes were identified, of which 279 were classified as pathogenic or likely pathogenic based on ACMG-AMP criteria, utilizing data from the Dominantly Inherited Alzheimer Network (DIAN), literature, and public databases. Symptomatic age at onset (AAO) data was estimated for 227 of these variants, allowing detailed characterization of their frequency, pathogenicity, and AAO. Importantly, 226 variants meet eligibility criteria for inclusion in disease-modifying clinical trials. Furthermore, we demonstrate the predictive value of mean variant AAO and parental AAO in predicting symptomatic AAO, validated against converters who became symptomatic during follow-up in the DIAN Observational Study (DIAN-OBS). This dataset provides critical insights into the global landscape of ADAD and reveals the genetic and AAO heterogeneity of ADAD variants while refining variant trial eligibility criteria. es_ES
dc.language.iso eng es_ES
dc.publisher Oxford University Press es_ES
dc.rights info:eu-repo/semantics/openAccess
dc.subject Alzheimer Disease es_ES
dc.subject Enfermedad de Alzheimer es_ES
dc.subject Amyloid beta-Protein Precursor es_ES
dc.subject Precursor de Proteína beta-Amiloide es_ES
dc.title The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.type info:eu-repo/semantics/publishedVersion
dc.description.fil Fil: Allegri, Ricardo Francisco. Fleni. Departamento de Neurología. Servicio de Neurología Cognitiva, Neuropsicología y Neuropsiquiatría; 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.relation.ispartofCOUNTRY Reino Unido
dc.relation.ispartofCITY Oxford
dc.relation.ispartofTITLE Brain
dc.relation.ispartofISSN 1460-2156
dc.type.snrd info:ar-repo/semantics/artículo es_ES


Ficheros en el ítem

Este ítem aparece en la(s) siguiente(s) colección(ones)

Mostrar el registro sencillo del ítem

Buscar en DSpace


Listar

Mi cuenta

Estadísticas