Nature Medicine | November 25, 2019
Arboleda-Velasquez JF, Lopera F, O’Hare M, Delgado-Tirado S, Marino C, Chmielewska N, Saez-Torres KL, Amarnani D, Schultz AP, Sperling RA, Leyton-Cifuentes D, Chen K, Baena A, Aguillon D, Rios-Romenets S, Giraldo M, Guzman-Velez E, Norton DJ, Pardilla-Delgado E, Artola A, Sanchez JS, Acosta-Uribe J, Lalli M, Kosik KS, Huentelman MJ, Zetterberg H, Blennow K, Reiman RA, Luo J, Chen Y, Thiyyagura P, Su Y, Jun GR, Naymik M, Gai X, Bootwalla M, Ji J, Shen L, Miller JB, Kim LA, Tariot PN, Johnson KA, Reiman EM and Quiroz YT
Nat Med. 2019 Nov;25(11):1680-1683. doi: 10.1038/s41591-019-0611-3.
Abstract
We identified a PSEN1 (presenilin 1) mutation carrier from the world’s largest autosomal dominant Alzheimer’s disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset. The individual had two copies of the APOE3 Christchurch (R136S) mutation, unusually high brain amyloid levels and limited tau and neurodegenerative measurements. Our findings have implications for the role of APOE in the pathogenesis, treatment and prevention of Alzheimer’s disease.
Related Posts
Next-Generation PhenoCode Molecular Barcoding Chemistry: Enhanced Reliability and Reproducibility for High-Plex Spatial Profiling
Poster Background Reliable and reproducible antibody barcoding is critical for spatial biology workflows onthe Akoya PhenoCycler®-Fusion 2.0 (PCF). We evaluated and optimized a complementarychemistry to the existing Antibody Conjugation Kit…
Neurology
Comparative Spatial Analyses of the Tumor Immune Landscape in Mouse Models of Glioblastoma Using the PhenoCode Discovery Mouse Neuro Panel and Customized Markers
Poster Background Developing effective therapies for glioblastoma (GBM) relies on robust preclinical animal models that enable detailed investigation of tumor biology, discovery of therapeutic targets, and evaluation of new treatment…
Oncology
Development of a Spatial Metabolic Map of Immunotherapy Sensitive and Resistant Cutaneous Skin Carcinoma
Poster Background Ultrahigh-Plex Single-cell Spatial Phenotyping has revealed valuable insights into the tumor immune microenvironment (TiME) for biomarker discovery and stratification of clinical responses. Metabolic reprogramming is a key hallmark…
Spatial Immunometabolic Profiling of Non-Small Cell Lung Cancer Reveals Distinct Immune Exclusion Patterns and Functional Niches
Analytical validation of a multiplex immunofluorescence 7-Biomarker Immunoprint® assay on the Akoya PhenoImager HT platform for stage I/II Melanoma
Neurology
Neurodegenerative biomarkers in different chambers of the eye relative to plasma: an agreement validation study
Alzheimer’s Research and Therapy | August 26, 2024 Sampani K, Ness S, Tuz-Zahra F, Aytan N, Spurlock EE, Alluri S, Chen X, Siegel NH, Alosco ML, Xia W, Tripodis Y,…
Neurology
Clinical validation of the LucentAD p-Tau 217 as a lab developed test (LDT) for clinical use
Poster The intersection of new therapeutic options for Alzheimer’s disease (AD), the emergence of accurate blood-based tests for AD, and the anticipated health system log jam for confirmatory diagnostic testing…
Neurology
Development of thresholds and a visualization tool for use of a blood test in routine clinical dementia practice
Alzheimer’s & Dementia | August 3, 2024 Verberk IMW, Jutte J, Kingma MY, Vigneswaran S, Gouda MMTEE, van Engelen MP, Alcolea D, Arranz J, Fortea J, Lleó A, Chevalier C,…