Authors
Nelly Joseph‐Mathurin, Rebecca L Feldman, Ruijin Lu, Zahra Shirzadi, Carmen Toomer, Junie R Saint Clair, Yinjiao Ma, Nicole S McKay, Jeremy F Strain, Collin Kilgore, Karl A Friedrichsen, Charles D Chen, Brian A Gordon, Gengsheng Chen, Russ C Hornbeck, Parinaz Massoumzadeh, Austin A McCullough, Qing Wang, Yan Li, Guoqiao Wang, Sarah J Keefe, Stephanie A Schultz, Carlos Cruchaga, Gregory M Preboske, Clifford R Jack Jr, Jorge J Llibre‐Guerra, Ricardo F Allegri, Beau M Ances, Sarah B Berman, William S Brooks, David M Cash, Gregory S Day, Nick C Fox, Michael Fulham, Bernardino Ghetti, Keith A Johnson, Mathias Jucker, William E Klunk, Christian la Fougère, Johannes Levin, Yoshiki Niimi, Hwamee Oh, Richard J Perrin, Gerald Reischl, John M Ringman, Andrew J Saykin, Peter R Schofield, Yi Su, Charlene Supnet‐Bell, Jonathan Vöglein, Igor Yakushev, Adam M Brickman, John C Morris, Eric McDade, Chengjie Xiong, Randall J Bateman, Jasmeer P Chhatwal, Tammie LS Benzinger, Dominantly Inherited Alzheimer Network
Publication date
2024/4
Journal
Alzheimer's & Dementia
Volume
20
Issue
4
Pages
2680-2697
Description
INTRODUCTION
Amyloidosis, 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.
METHODS
Individuals 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.
RESULTS
Postcodon 200 carriers had lower amyloid burden in all regions but worse markers of SVD and worse Clinical Dementia Rating® …
Total citations
20241
Scholar articles
N Joseph‐Mathurin, RL Feldman, R Lu, Z Shirzadi… - Alzheimer's & Dementia, 2024