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Article

Cognitive Outcomes in Autosomal-Dominant Alzheimer's Disease: A Comprehensive Review from a Colombian Kindred with the Presenilin-1 E280A Mutation.

Journal of Alzheimer's disease : JAD - 1 Jan 2024

Giudicessi Averi, McDowell Celina Pluim, Martinez Jairo E, Baena Ana, Vila-Castelar Clara, Norton Daniel, Aguirre-Acevedo Daniel C, Tirado Victoria, Bocanegra Yamile, Guzman-Velez Edmarie, Lopera Francisco, Cronin-Golomb Alice, Quiroz Yakeel T

Abstract excerpt

Background: The largest identified kindred worldwide with a single mutation causing autosomal-dominant Alzheimer's disease (ADAD) is a family from Antioquia, Colombia, carrying the Presenilin-1 (PSEN1) E280A (Paisa) mutation. The majority of mutation carriers develop dementia, typically commencing in their late 30 s, with a median onset age of 49 years. Cognitive decline is a hallmark feature. Objective: This...

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Identifiers

PMID: 39213071
DOI: 10.3233/JAD-240360
PMCID: PMC11616039

Genes

PSEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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