ArticleActa neuropathologica2022
TREM2 risk variants are associated with atypical Alzheimer's disease.
Article in Acta neuropathologica, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 28 citations in OpenAlex.
- Article
- Atypical Alzheimer disease: a multi-axis framework toward defining heterogeneity.Nature reviews. Neurology · 2026Review
- Parabacteroides goldsteinii mitigates parkinsonism in LRRK2 mutant mice by reducing neuroinflammation through Gut-Brain axis.Journal of advanced research · 2026Article
- Idiotypic-susceptible Alzheimer's disease: a clinically relevant, neurofibrillary tangle subtype.Acta neuropathologica · 2026Article
- TREM2 as a central hub of neuroimmune-metabolic crosstalk in central nervous system disorders: from microglial biology to therapeutic targeting.Frontiers in immunology · 2026Review
- Connectivity as a universal predictor of tau progression in atypical Alzheimer's disease.Brain : a journal of neurology · 2025Article
- Ceramides may Play a Central Role in the Pathogenesis of Alzheimer's Disease: a Review of Evidence and Horizons for Discovery.Molecular neurobiology · 2025Review
- Roles of TREM2 in Alzheimer's disease.Translational neurodegeneration · 2025Review
- Variable and interactive effects of Sex, APOE ε4 and TREM2 on the deposition of tau in entorhinal and neocortical regions.Nature communications · 2025Article
- Interleukin-12 signaling drives Alzheimer's disease pathology through disrupting neuronal and oligodendrocyte homeostasis.Nature aging · 2025Article
- TREM2 risk variants and associated endophenotypes in alzheimer's disease.Alzheimer's research & therapy · 2025Article
- The impact of rare genetic variants on Alzheimer disease.Nature reviews. Neurology · 2025Review
- Identification of novel risk genes for Alzheimer's disease by integrating genetics from hippocampus.Scientific reports · 2024Article
- Alzheimer's disease clinical variants show distinct neuroinflammatory profiles with neuropathology.Neuropathology and applied neurobiology · 2024Article
- Unlocking early detection of Alzheimer's disease: The emerging role of nanomaterial-based optical sensors.Journal of food and drug analysis · 2024Review
- Regional desynchronization of microglial activity is associated with cognitive decline in Alzheimer's disease.Molecular neurodegeneration · 2024Article
- Microglia in brain aging: An overview of recent basic science and clinical research developments.Journal of biomedical research · 2024Article
- Neurodegenerative Disease Tauopathies.Annual review of pathology · 2024Review
- Microglial activation, tau and amyloid deposition in TREM2 p.R47H carriers and mild cognitive impairment patients: a multi-modal/multi-tracer PET/MRI imaging study with influenza vaccine immune challenge.Journal of neuroinflammation · 2023Article
- The continuing legacy of John.Acta neuropathologica · 2022Article
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Authors and funding
16 authors at 2 institutions in 1 country.
Funding
Abstract
Alzheimer's disease (AD) has multiple clinically and pathologically defined subtypes where the underlying causes of such heterogeneity are not well established. Rare TREM2 variants confer significantly increased risk for clinical AD in addition to other neurodegenerative disease clinical phenotypes. Whether TREM2 variants are associated with atypical clinical or pathologically defined subtypes of AD is not known. We studied here the clinical and pathological features associated with TREM2 risk variants in an autopsy-confirmed cohort. TREM2 variant cases were more frequently associated with non-amnestic clinical syndromes. Pathologically, TREM2 variant cases were associated with an atypical distribution of neurofibrillary tangle density with significantly lower hippocampal NFT burden relative to neocortical NFT accumulation. In addition, NFT density but not amyloid burden was associated with an increase of dystrophic microglia. TREM2 variant cases were not associated with an increased prevalence, extent, or severity of co-pathologies. These clinicopathological features suggest that TREM2 variants contribute to clinical and pathologic AD heterogeneity by altering the distribution of neurofibrillary degeneration and tau-dependent microglial dystrophy, resulting in hippocampal-sparing and non-amnestic AD phenotypes.
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