Carlos Cruchaga

2 months ago | nature.com | Jorge J. Llibre-Guerra |Nelly Joseph-Mathurin |Kathleen Carter |Eric McDade |Brian Gordon |Alan E. Renton | +8 more

AbstractWe conducted an in-depth longitudinal study on an individual carrying the presenilin 2 p.Asn141Ile mutation, traditionally associated with dominantly inherited Alzheimer’s disease (AD), who has remarkably remained asymptomatic past the expected age of clinical onset. This study combines genetic, neuroimaging and biomarker analyses to explore the underpinnings of this resilience.

Sep 20, 2024 | nature.com | Shannon L. Risacher |Paula J Bice |Jared Brosch |Kelley Faber |Martin R Farlow |Tatiana Foroud | +29 more

AbstractDetermining the genetic architecture of Alzheimer’s disease pathologies can enhance mechanistic understanding and inform precision medicine strategies. Here, we perform a genome-wide association study of cortical tau quantified by positron emission tomography in 3046 participants from 12 independent studies. The CYP1B1-RMDN2 locus is associated with tau deposition.

Jul 2, 2024 | nature.com | Jingqin Luo |Erik D. Roberson |Carlos Cruchaga |David M. Holtzman |Randall J. Bateman

AbstractBlood-based biomarkers of Alzheimer disease (AD) may facilitate testing of historically under-represented groups. The Study of Race to Understand Alzheimer Biomarkers (SORTOUT-AB) is a multi-center longitudinal study to compare AD biomarkers in participants who identify their race as either Black or white. Plasma samples from 324 Black and 1,547 white participants underwent analysis with C2N Diagnostics’ PrecivityAD test for Aβ42 and Aβ40.

Jul 10, 2023 | nature.com | Nicole McKay |Brian Gordon |Shaney Flores |Nelly Joseph-Mathurin |Clifford R. Jack |Peter Millar | +19 more

All data described in the current resource manuscript are freely available upon completion of a DIAN-OBS Data Request Form. This request procedure allows DIAN to implement a transparent and inclusive data-sharing practice while maximizing confidentiality and security of our participants’ protected personal information. Every submission is reviewed by the DIAN principal investigator as well as relevant DIAN core leaders (that is, the Imaging Core leader).