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Article

Two Rare Variants in PLAU and BACE1 Genes-Do They Contribute to Semantic Dementia Clinical Phenotype?

Genes - 17 Nov 2021

Gaweda-Walerych Katarzyna, Sitek Emilia J, Borczyk Małgorzata, Berdyński Mariusz, Narożańska Ewa, Brockhuis Bogna, Korostyński Michał, Sławek Jarosław, Zekanowski Cezary

Abstract excerpt

We have performed whole-genome sequencing to identify the genetic variants potentially contributing to the early-onset semantic dementia phenotype in a patient with family history of dementia and episodic memory deficit accompanied with profound semantic loss. Only very rare variants of unknown significance (VUS) have been identified: a nonsense variant c.366C>A/p.Cys122* in plasminogen activator, urokinase...

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Identifiers

PMID: 34828412
DOI: 10.3390/genes12111806
PMCID: PMC8624613

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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