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Article

TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing.

Brain : a journal of neurology - 5 Jul 2024

Kiianitsa Kostantin, Lukes Maria E, Hayes Brian J, Brutman Julianna N, Valdmanis Paul N, Bird Thomas D, Raskind Wendy H, Korvatska Olena

Abstract excerpt

Loss-of-function variants in the triggering receptor expressed on myeloid cells 2 (TREM2) are responsible for a spectrum of neurodegenerative disorders. In the homozygous state, they cause severe pathologies with early onset dementia, such as Nasu-Hakola disease and behavioural variants of frontotemporal dementia (FTD), whereas heterozygous variants increase the risk of late-onset Alzheimer's disease (AD) and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 38226698
DOI: 10.1093/brain/awae014
PMCID: PMC11224616

Genes

TREM2

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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