Lewy Body Pathology and Alzheimer Disease in Down Syndrome

Abstract Introduction/Objective Aging adults with Down syndrome (DS) develop Alzheimer disease neuropathology (AD) by the age of 40 years, primarily due to overexpression amyloid precursor protein on chromosome 21. Lewy bodies (LBs), containing alpha-synuclein protein, are observed in 7-60% AD patients amygdala and cortex. Prior DS studies (n=20-56 cases) find frequency LB pathology range between 8-50% cases being affected. We hypothesized that would also be present brain similar locations prevalence AD. Thus, we evaluated our UCI cohort have collected over past 25 years. Methods/Case Report Neuropathology reports from 55 UCI-ADRC were included this study. Cases stained for beta-amyloid, phosphor-tau, TDP-43 as per NACC protocols (one case each v7,8,9 three v11). Results (if a Case Study enter NA) identified 6 (10.9%), all male, mean 57 years (SD=3) showed and/or neurites. was classified predominant 3 cases, brainstem one, intermediate/transitional diffuse/neocortical one. Five BRAAK stage one 5. had CERAD neuritic plaque score C B score. Two Thal phase 5, 4. The demonstrated hippocampal sclerosis. Conclusion observation positive male may reflect sample bias. In study, most common but other sites involvement seen prior study studies. (10.9%) is low end