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Novel Mutation (Gly212Val) in the PS2 Gene Associated with Early-Onset Familial Alzheimer's Disease.

Journal of Alzheimer's disease : JAD - 25 Apr 2016

Marín-Muñoz Juan, Noguera-Perea Ma Fuensanta, Gómez-Tortosa Estrella, López-Motos David, Antequera-Torres Martirio, Martínez-Herrada Begoña, Manzanares-Sánchez Salvadora, Vivancos-Moreau Laura, Legaz-García Agustina, Rábano-Gutiérrez Del Arroyo Alberto, Antúnez-Almagro Carmen

Abstract excerpt

Mutations in the presenilin 2 gene (PS2) are an extremely rare cause of early-onset autosomal dominant Alzheimer's disease (AD), accounting for only 5% of these families. These cases represent a particular model of AD, and the scarcity of reports on their clinical phenotypes makes them of great interest. We report a family with early-onset autosomal dominant AD in four members, where the two living siblings were...

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PMID: 27128372
DOI: 10.3233/JAD-160050

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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