ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2024
Presenilin-1 mutation position influences amyloidosis, small vessel disease, and dementia with disease stage.
Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 12 citations in OpenAlex.
- Descriptive Analysis of Retrospective Observational Real-World Evidence of a Monoclonal Anti-Amyloid Therapy Program in a Wide Catchment Specialty Memory Clinic.Neurology and therapy · 2026Article
- Identification of genetic modifiers of autosomal dominant Alzheimer's disease: a genome-wide association study.The Lancet. Neurology · 2026Article
- Regional growth rates of white matter hyperintensities are associated with beta-amyloid burden.Neurobiology of aging · 2026Article
- Early functional changes and plasma GFAP in Swedish families with Autosomal Dominant Alzheimer's disease mutations.Translational psychiatry · 2026Article
- Modeling Alzheimer's disease with brain organoids: mechanisms, applications, and future directions.Frontiers in cell and developmental biology · 2026Review
- Comparison of amyloid chronicity and EYO in autosomal dominant Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Alterations in MRI-visible perivascular spaces precede dementia diagnosis by 18 years in autosomal dominant Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Donanemab: Appropriate use recommendations.The journal of prevention of Alzheimer's disease · 2025Article
- Presenilin-1 mutation position influences amyloidosis, small vessel disease, and dementia with disease stage.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Sex and ethnicity in early-onset Alzheimer's disease biomarkers and global function.Alzheimer's & dementia (Amsterdam, Netherlands)Article
- Diagnostic challenges in early-onset Alzheimer's disease: Case report of a patient withJournal of Alzheimer's disease reportsArticle
Corrections and comments
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Authors and funding
59 authors at 18 institutions in 6 countries.
Funding
Abstract
introductionAmyloidosis, including cerebral amyloid angiopathy, and markers of small vessel disease (SVD) vary across dominantly inherited Alzheimer's disease (DIAD) presenilin-1 (PSEN1) mutation carriers. We investigated how mutation position relative to codon 200 (pre-/postcodon 200) influences these pathologic features and dementia at different stages.
methodsIndividuals from families with known PSEN1 mutations (n = 393) underwent neuroimaging and clinical assessments. We cross-sectionally evaluated regional Pittsburgh compound B-positron emission tomography uptake, magnetic resonance imaging markers of SVD (diffusion tensor imaging-based white matter injury, white matter hyperintensity volumes, and microhemorrhages), and cognition.
resultsPostcodon 200 carriers had lower amyloid burden in all regions but worse markers of SVD and worse Clinical Dementia Rating DISCUSSION: We demonstrated the genotypic variability behind spatiotemporal amyloidosis, SVD, and clinical presentation in DIAD, which may inform patient prognosis and clinical trials. HIGHLIGHTS: Mutation position influences Aβ burden, SVD, and dementia. PSEN1 pre-200 group had stronger associations between Aβ burden and disease stage. PSEN1 post-200 group had stronger associations between SVD markers and disease stage. PSEN1 post-200 group had worse dementia score than pre-200 in late disease stage. Diffusion tensor imaging-based SVD markers mediated mutation position effects on dementia in the late stage.
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