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Article

Mutation analysis of disease causing genes in patients with early onset or familial forms of Alzheimer's disease and frontotemporal dementia.

BMC genomics - 4 Feb 2022

Pagnon de la Vega María, Näslund Carl, Brundin RoseMarie, Lannfelt Lars, Löwenmark Malin, Kilander Lena, Ingelsson Martin, Giedraitis Vilmantas

Abstract excerpt

BACKGROUND: Most dementia disorders have a clear genetic background and a number of disease genes have been identified. Mutations in the tau gene (MAPT) lead to frontotemporal dementia (FTD), whereas mutations in the genes for the amyloid-β precursor protein (APP) and the presenilins (PSEN1, PSEN2) cause early-onset, dominantly inherited forms of Alzheimer's disease (AD). Even if mutations causing Mendelian forms...

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Identifiers

PMID: 35120450
DOI: 10.1186/s12864-022-08343-9
PMCID: PMC8817590

Provenance

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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