Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred.

doi:10.1002/alz.13021

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Article

Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred.

Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Sept 2023

Cochran Jesse Nicholas, Acosta-Uribe Juliana, Esposito Bianca T, Madrigal Lucia, Aguillón David, Giraldo Margarita M, Taylor Jared W, Bradley Joseph, Fulton-Howard Brian, Andrews Shea J, Acosta-Baena Natalia, Alzate Diana, Garcia Gloria P, Piedrahita Francisco, Lopez Hugo E, Anderson Ashlyn G, Rodriguez-Nunez Ivan, Roberts Kevin, Dominantly Inherited Alzheimer Network, Absher Devin, Myers Richard M, Beecham Gary W, Reitz Christiane, Rizzardi Lindsay F, Fernandez Maria Victoria, Goate Alison M, Cruchaga Carlos, Renton Alan E, Lopera Francisco, Kosik Kenneth S

Abstract excerpt

INTRODUCTION: Genetic associations with Alzheimer's disease (AD) age at onset (AAO) could reveal genetic variants with therapeutic applications. We present a large Colombian kindred with autosomal dominant AD (ADAD) as a unique opportunity to discover AAO genetic associations. METHODS: A genetic association study was conducted to examine ADAD AAO in 340 individuals with the PSEN1 E280A mutation via TOPMed array...

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Identifiers

PMID: 36951251
DOI: 10.1002/alz.13021
PMCID: PMC10514237

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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