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Article

A Novel Rare Homozygous R47C Variant in TREM2 with Frontal Variant Alzheimer's Disease.

Neurology India - 1 Mar 2026

Mallika Aswathy P, Mathuranath Pavagada S, Menon Ramshekhar N, Banerjee Moinak

Abstract excerpt

ABSTRACT: Triggering Receptor expressed on Myeloid cells 2 (TREM2) mutations can cause Nasu-Hakola disease, a rare form of dementia, and are also linked to an increased risk of Alzheimer's disease (AD) and frontotemporal dementia (FTD). The TREM2 receptor plays a role in microglial cell function, including response to injury and amyloid beta pathology in the brain. Variants in TREM2, particularly in exon 2, can...

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Source

Identifiers

PMID: 41817071
DOI: 10.4103/neurol-india.Neurol-India-D-25-00391

Genes

TREM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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