Patterns and severity of vascular amyloid in Alzheimer's disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer's disease

Acta Neuropathologica
David M A MannAndre Strydom

Abstract

In this study, we have compared the severity of amyloid plaque formation and cerebral amyloid angiopathy (CAA), and the subtype pattern of CAA pathology itself, between APP genetic causes of AD (APPdup, APP mutations), older individuals with Down syndrome (DS) showing the pathology of Alzheimer's disease (AD) and individuals with sporadic (early and late onset) AD (sEOAD and sLOAD, respectively). The aim of this was to elucidate important group differences and to provide mechanistic insights related to clinical and neuropathological phenotypes. Since lipid and cholesterol metabolism is implicated in AD as well as vascular disease, we additionally aimed to explore the role of APOE genotype in CAA severity and subtypes. Plaque formation was greater in DS and missense APP mutations than in APPdup, sEOAD and sLOAD cases. Conversely, CAA was more severe in APPdup and missense APP mutations, and in DS, compared to sEOAD and sLOAD. When stratified by CAA subtype from 1 to 4, there were no differences in plaque scores between the groups, though in patients with APPdup, APP mutations and sEOAD, types 2 and 3 CAA were more common than type 1. Conversely, in DS, sLOAD and controls, type 1 CAA was more common than types 2 and 3. APOE ε4 al...Continue Reading

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Citations

Jul 7, 2019·Developmental Neurobiology·María Carmona-IraguiJuan Fortea
Aug 6, 2019·Developmental Neurobiology·Eric E AbrahamsonMilos D Ikonomovic
Aug 8, 2019·Developmental Neurobiology·Falah AlhajrafAndre Strydom
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Mar 10, 2020·Alzheimer's & Dementia : the Journal of the Alzheimer's Association·Miguel Á Araque CaballeroMichael Ewers
May 18, 2020·International Journal of Molecular Sciences·Laura GattiAnna Bersano
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Jan 27, 2021·Neurology·Nelly Joseph-MathurinUNKNOWN Dominantly Inherited Alzheimer Network
Jun 7, 2021·Molecular and Cellular Neurosciences·Malin JohannessonLars Lannfelt
Aug 1, 2021·The American Journal of Pathology·Rajesh N Kalaria, Diego Sepulveda-Falla
Jun 23, 2020·Chemical Research in Toxicology·Jinyoung Lee, Jennifer L Freeman
Aug 28, 2021·Journal of Clinical Medicine·Laia Montoliu-GayaNicholas James Ashton

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Methods Mentioned

BETA
genotyping

Software Mentioned

Statistical Package for Social Sciences ( SPSS )
excel

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