Authors
Johannes Levin, Simone Baiardi, Corinne Quadalti, Marcello Rossi, Angela Mammana, Jonathan Vöglein, Alexander Bernhardt, Richard J Perrin, Mathias Jucker, Oliver Preische, Anna Hofmann, Günter U Höglinger, Nigel J Cairns, Erin E Franklin, Patricio Chrem, Carlos Cruchaga, Sarah B Berman, Jasmeer P Chhatwal, Alisha Daniels, Gregory S Day, Natalie S Ryan, Alison M Goate, Brian A Gordon, Edward D Huey, Laura Ibanez, Celeste M Karch, Jae‐Hong Lee, Jorge Llibre‐Guerra, Francisco Lopera, Colin L Masters, John C Morris, James M Noble, Alan E Renton, Jee Hoon Roh, Matthew P Frosch, C Dirk Keene, Catriona McLean, Raquel Sanchez‐Valle, Peter R Schofield, Charlene Supnet‐Bell, Chengjie Xiong, Armin Giese, Oskar Hansson, Randall J Bateman, Eric McDade, Dominantly Inherited Alzheimer Network, Piero Parchi
Publication date
2024/4/26
Journal
Alzheimer's & Dementia
Description
INTRODUCTION
Amyloid beta and tau pathology are the hallmarks of sporadic Alzheimer's disease (AD) and autosomal dominant AD (ADAD). However, Lewy body pathology (LBP) is found in ≈ 50% of AD and ADAD brains.
METHODS
Using an α‐synuclein seed amplification assay (SAA) in cerebrospinal fluid (CSF) from asymptomatic (n = 26) and symptomatic (n = 27) ADAD mutation carriers, including 12 with known neuropathology, we investigated the timing of occurrence and prevalence of SAA positive reactivity in ADAD in vivo.
RESULTS
No asymptomatic participant and only 11% (3/27) of the symptomatic patients tested SAA positive. Neuropathology revealed LBP in 10/12 cases, primarily affecting the amygdala or the olfactory areas. In the latter group, only the individual with diffuse LBP reaching the neocortex showed α‐synuclein seeding activity in CSF in vivo.
DISCUSSION
Results suggest that in …
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