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Article

Clinical and functional evidence supporting the pathogenicity of the novel PSEN1 p.R358P variant in early-onset Alzheimer's disease.

Journal of Alzheimer's disease : JAD - 1 Jan 2026

García-Chialva Diego E, Itzcovich Tatiana, Cifarelli Diego, Apecetche Manuela, Chrem-Méndez Patricio, Magrath-Guimet Nahuel, Vazquez Silvia, Bérgamo Yanina, Allegri Ricardo, Marazita Mariela, Sevlever Gustavo E, Isaja Luciana, Surace Ezequiel I, Romorini Leonardo

Abstract excerpt

BackgroundPathogenic variants in PSEN1, PSEN2, or AβPP cause early-onset Alzheimer's disease (EOAD). Several novel variants remain of uncertain significance (VUS) due to limited evidence. The PSEN1 p.R358P variant has not been previously characterized or reported in EOAD cases.ObjectiveTo determine the pathogenicity of the PSEN1 p.R358P variant in a patient with EOAD and assess its effect on amyloid-β (Aβ)...

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Source

Identifiers

PMID: 41197136
DOI: 10.1177/13872877251392236

Genes

PSEN1
APOE
PSEN2
SORL1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Clinical and functional evidence supporting the pathogenicity of the novel PSEN1 p.R358P variant in early-onset Alzheimer's disease.PMID 41197136Read ↗

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