2026-05-08T20:04:29Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/192782024-09-21T10:17:54Zcom_20.500.12105_19604com_20.500.12105_2051col_20.500.12105_19605
Repisalud
author
Vilor-Tejedor, Natalia
author
Genius, Patricia
author
Rodríguez-Fernández, Blanca
author
Minguillón, Carolina
author
Sadeghi, Iman
author
González-Escalante, Armand
author
Crous-Bou, Marta
author
Suárez-Calvet, Marc
author
Grau-Rivera, Oriol
author
Brugulat-Serrat, Anna
author
Sánchez-Benavides, Gonzalo
author
Esteller, Manel
author
Fauria, Karine
author
Molinuevo, José Luis
author
Navarro, Arcadi
author
Gispert, Juan Domingo
funder
National Institutes of Health (Estados Unidos)
funder
Fundación La Caixa
funder
Ministerio de Ciencia e Innovación (España)
funder
Unión Europea. Comisión Europea. NextGenerationEU
funder
Unión Europea
funder
Unión Europea. Comisión Europea. H2020
2024-05-07T12:39:48Z
2024-05-07T12:39:48Z
2024-03
Alzheimers Dement. 2024 Mar;20(3):1703-1715.
10.1002/alz.13537
1552-5279
Alzheimer's & dementia : the journal of the Alzheimer's Association
38088508
http://hdl.handle.net/20.500.12105/19278
INTRODUCTION
In 2013, the ALzheimer's and FAmilies (ALFA) project was established to investigate pathophysiological changes in preclinical Alzheimer's disease (AD), and to foster research on early detection and preventive interventions.
METHODS
We conducted a comprehensive genetic characterization of ALFA participants with respect to neurodegenerative/cerebrovascular diseases, AD biomarkers, brain endophenotypes, risk factors and aging biomarkers. We placed particular emphasis on amyloid/tau status and assessed gender differences. Multiple polygenic risk scores were computed to capture different aspects of genetic predisposition. We additionally compared AD risk in ALFA to that across the full disease spectrum from the Alzheimer's Disease Neuroimaging Initiative (ADNI).
RESULTS
Results show that the ALFA project has been successful at establishing a cohort of cognitively unimpaired individuals at high genetic predisposition of AD.
DISCUSSION
It is, therefore, well-suited to study early pathophysiological changes in the preclinical AD continuum. Highlights Prevalence of ε4 carriers in ALzheimer and FAmilies (ALFA) is higher than in the general European population The ALFA study is highly enriched in Alzheimer's disease (AD) genetic risk factors beyond APOE AD genetic profiles in ALFA are similar to clinical groups along the continuum ALFA has succeeded in establishing a cohort of cognitively unimpaired individuals at high genetic AD risk ALFA is well suited to study pathogenic events/early pathophysiological changes in AD.
eng
Genetic characterization of the ALFA study: Uncovering genetic profiles in the Alzheimer's continuum.
journal article
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Genetic characterization of the ALFA study_Alzheimers Dement_2024.pdf
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Genetic characterization of the ALFA study_Alzheimers Dement_2024.pdf.txt