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Article

A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer's disease.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jun 2021

Guven Gamze, Samanci Bedia, Gulec Cagri, Hanagasi Hasmet, Gurvit Hakan, Gokalp Ebru Erzurumluoglu, Tepgec Fatih, Guler Suleyman, Uyguner Oya, Bilgic Basar

Abstract excerpt

Alzheimer's disease (AD) can be either sporadic or familial, and familial forms of AD accounts for only 5% of the cases. So far, autosomal dominantly inherited mutations in "Presenilin 1" (PSEN1), "Presenilin 2" (PSEN2), and "Amyloid precursor protein" (APP) genes were associated with familial AD. Amid the others, pathogenic mutations in the PSEN2 gene are less common. In this study, we describe a novel...

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PMID: 33855622
DOI: 10.1007/s10072-021-05243-w

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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