White matter hyperintensities and the mediating role of cerebral amyloid angiopathy in dominantly-inherited Alzheimer’s disease

Introduction White matter hyperintensity (WMH) volume on MRI is increased among presymptomatic individuals with autosomal dominant mutations for Alzheimer’s disease (AD). One potential explanation is that WMH, conventionally considered a marker of cerebrovascular disease, are a reflection of cerebral amyloid angiopathy (CAA) and that increased WMH in this population is a manifestation of this vascular form of primary AD pathology. We examined whether the presence of cerebral microbleeds, a marker of CAA, mediates the relationship between WMH and estimated symptom onset in individuals with and without autosomal dominant mutations for AD. Participants and methods Participants (n = 175, mean age = 41.1 years) included 112 with an AD mutation and 63 first-degree non-carrier controls. We calculated the estimated years from expected symptom onset (EYO) and analyzed baseline MRI data for WMH volume and presence of cerebral microbleeds. Mixed effects regression and tests of mediation were used to examine microbleed and WMH differences between carriers and non-carriers and to test the whether the association between WMH and mutation status is dependent on the presence of microbleeds. Results Mutation carriers were more likely to have microbleeds than non-carriers (p<0.05) and individuals with microbleeds had higher WMH volume than those without (p<0.05). Total WMH volume was increased in mutation carriers compared with non-carriers, up to 20 years prior to EYO, after controlling for microbleed status, as we demonstrated previously. Formal testing of mediation demonstrated that 21% of the association between mutation status and WMH was mediated by presence of microbleeds (p = 0.03) but a significant direct effect of WMH remained (p = 0.02) after controlling for presence of microbleeds. Discussion Although there is some co-dependency between WMH and microbleeds, the observed increases in WMH among mutation carriers does not appear to be fully mediated by this marker of CAA. The findings highlight the possibility that WMH represent a core feature of AD independent of vascular forms of beta amyloid.

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PID https://www.doi.org/10.1371/journal.pone.0195838
PID https://www.doi.org/10.1371/journal.pone.0195838.
PID https://www.doi.org/10.7916/d8zc9kfs
PID pmc:PMC5942789
PID pmid:29742105
URL http://ro.ecu.edu.au/cgi/viewcontent.cgi?article=5385&context=ecuworkspost2013
URL http://dx.doi.org/10.1371/journal.pone.0195838
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URL https://findanexpert.unimelb.edu.au/scholarlywork/1328771-white-matter-hyperintensities-and-the-mediating-role-of-cerebral-amyloid-angiopathy-in-dominantly-inherited-alzheimer's-disease
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URL https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5942789
URL http://dx.plos.org/10.1371/journal.pone.0195838
URL https://ro.ecu.edu.au/ecuworkspost2013/4379/
URL https://dash.harvard.edu/handle/1/37160195
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URL https://digitalcommons.wustl.edu/open_access_pubs/6932/
URL http://dx.doi.org/10.7916/d8zc9kfs
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Access Right Open Access
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Author Peter R Schofield, 0000-0003-2967-9662
Author Colin L Masters, 0000-0003-3072-7940
Author Ralph Martins, 0000-0002-4828-9363
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Collected From PubMed Central; ORCID; UnpayWall; Datacite; DOAJ-Articles; Crossref; Microsoft Academic Graph; Digital Access to Scholarship at Harvard
Hosted By Europe PubMed Central; PLoS ONE; Digital Access to Scholarship at Harvard
Publication Date 2018-05-09
Publisher Public Library of Science
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Country United States
Language English
Resource Type Other literature type; Article
keyword Q
keyword R
keyword keywords.General Biochemistry, Genetics and Molecular Biology
keyword Alzheimer's Disease
system:type publication
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Source https://science-innovation-policy.openaire.eu/search/publication?articleId=dedup_wf_001::40e3997890408077216a0d6a189833a7
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Last Updated 26 December 2020, 13:48 (CET)
Created 26 December 2020, 13:48 (CET)