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Article

A novel PSEN1 (S230N) mutation causing early-onset Alzheimer's Disease associated with prosopagnosia, hoarding, and Parkinsonism.

Neuroscience letters - 14 Sept 2017

Ringman John M, Casado Maria, Van Berlo Victoria, Pa Judy, Joseph-Mathurin Nelly, Fagan Anne M, Benzinger Tammie, Bateman Randall J, Morris John C

Abstract excerpt

We describe clinical and biomarker findings in an index patient with the onset of Alzheimer's disease (AD) symptoms at age 57 and a family history consistent with an autosomal dominant pattern of inheritance. She had the atypical early features of visual agnosia and prosopagnosia followed by hoarding behavior and Parkinsonism. Structural MRI revealed global atrophy that was most severe in the lateral temporal...

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Source

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Identifiers

PMID: 28764909
DOI: 10.1016/j.neulet.2017.07.046
PMCID: PMC5731478

Genes

PSEN1
PSEN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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