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Article

The presenilin 1 mutation P436S causes familial Alzheimer's disease with elevated Aβ43 and atypical clinical manifestations.

Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Jul 2024

Arber Charles, Belder Christopher R S, Tomczuk Filip, Gabriele Rebecca, Buhidma Yazead, Farrell Clíona, O'Connor Antoinette, Rice Helen, Lashley Tammaryn, Fox Nick C, Ryan Natalie S, Wray Selina

Abstract excerpt

INTRODUCTION: Familial Alzheimer's disease (fAD) is heterogeneous in terms of age at onset and clinical presentation. A greater understanding of the pathogenicity of fAD variants and how these contribute to heterogeneity will enhance our understanding of the mechanisms of AD more widely. METHODS: To determine the pathogenicity of the unclassified PSEN1 P436S mutation, we studied an expanded kindred of eight...

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PMID: 38824433
DOI: 10.1002/alz.13904
PMCID: PMC11247678

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