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Article

Clinical characterization of a presenilin 1 mutation (F177S) in a family with very early-onset Alzheimer's disease in the third decade of life.

Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Mar 2014

Hausner Lucrezia, Tschäpe Jakob A, Schmitt Hans Peter, Hentschel Frank, Hartmann Tobias, Frölich Lutz

Abstract excerpt

BACKGROUND: Early-onset familial Alzheimer disease (AD) is an autosomal dominant disorder caused by mutations in the amyloid precursor protein, presenilin 1 (PSEN1), or presenilin 2 gene. The objective of this study was to characterize the phenotype in a large family with a PSEN1 F177S mutation by performing detailed clinical assessments, neuroimaging, and neuropathological analysis. METHODS: In two subjects,...

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Source

Identifiers

PMID: 23850332
DOI: 10.1016/j.jalz.2013.02.006

Genes

PSEN1

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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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