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Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease

Lalli, Matthew A; Cox, Hannah C.; Arcila, Mary Luz; Cadavid, Liliana; Moreno, Sonia; Madrigal, Lucia; Reiman, Eric M; Arcos-Burgos, Mauricio (Oscar); Bedoya, Gabriel; Brunkow, Mary E.


Background A mutation in presenilin 1 (E280A) causes early-onset Alzheimer's disease. Understanding the origin of this mutation will inform medical genetics.Methods We sequenced the genomes of 102 individuals from Antioquia, Colombia. We applied identity-by-descent analysis to identify regions of common ancestry. We estimated the age of the E280A mutation and the local ancestry of the haplotype harboring this mutation.Results All affected individuals share a minimal haplotype of 1.8 Mb...[Show more]

CollectionsANU Research Publications
Date published: 2014
Type: Journal article
Source: Alzheimer's & Dementia
DOI: 10.1016/j.jalz.2013.09.005


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