Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

Neurobiology of aging - 1 Oct 2014

Le Ber Isabelle, De Septenville Anne, Guerreiro Rita, Bras José, Camuzat Agnès, Caroppo Paola, Lattante Serena, Couarch Philippe, Kabashi Edor, Bouya-Ahmed Kawtar, Dubois Bruno, Brice Alexis

Abstract excerpt

TREM2 mutations were first identified in Nasu-Hakola disease, a rare autosomal recessive disease characterized by recurrent fractures because of bone cysts and presenile dementia. Recently, homozygous and compound heterozygous TREM2 mutations were identified in rare families with frontotemporal lobar degeneration (FTLD) but without bone involvement. We identified a p.Thr66Met heterozygous mutation in a new...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain
Share to Frontotemporal Dementia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Homozygote

Share to Magnetic Resonance Imaging

Share to Membrane Glycoproteins

Share to Phenotype

Share to Receptors, Immunologic

Source

Open in PubMed Open full text

Identifiers

PMID: 24910390
DOI: 10.1016/j.neurobiolaging.2014.04.010
PMCID: PMC4208293

Genes

TREM2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.PMID 24910390Read ↗

Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family.Semantic proximity Read ↗

A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature.Semantic proximity Read ↗

Behavioral variant of frontotemporal dementia in carriers of biallelic TREM2 variants: cases study.Semantic proximity Read ↗

Heterozygous TREM2 mutations in frontotemporal dementia.Semantic proximity Read ↗

Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation.Semantic proximity Read ↗

Mutations in TREM2 lead to pure early-onset dementia without bone cysts.Semantic proximity Read ↗

Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement.Semantic proximity Read ↗

Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia.Semantic proximity Read ↗

Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement.Semantic proximity Read ↗

A rare homozygous mutation in TYROBP resulting in early-onset dementia with bone cysts.Semantic proximity Read ↗

Absence of TREM2 polymorphisms in patients with Alzheimer's disease and Frontotemporal Lobar Degeneration.Semantic proximity Read ↗

A Novel Rare Homozygous R47C Variant in TREM2 with Frontal Variant Alzheimer's Disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.