Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation

Dermaut, B.

doi:10.1093/brain/124.12.2383

Cited by 74Alzheimer's disease research and treatmentsIntracerebral and Subarachnoid Hemorrhage ResearchDementia and Cognitive Impairment Research

Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation

Dermaut, B.·2001·Brain

DOI 10.1093/brain/124.12.2383

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Abstract

The dense-cored plaques are considered the pathogenic type of amyloid deposition in Alzheimer's disease brains because of their predominant association with dystrophic neurites. Nevertheless, in > 90% of cases of Alzheimer's disease amyloid is also deposited in cerebral blood vessel walls (congophilic amyloid angiopathy; CAA) but its role in Alzheimer's disease pathogenesis remains enigmatic. Here, we report a family (family GB) in which early-onset Alzheimer's disease was caused by a novel presenilin 1 mutation (L282V). This was unusually severe CAA reminiscent of the Flemish amyloid precursor protein (A692G) mutation we reported previously, which causes Alzheimer's disease and/or cerebral haemorrhages. In family GB, however, the disease presented as typical progressive Alzheimer's disease in the absence of strokes or stroke-like episodes. Similarly, neuroimaging studies and neuropathological examination favoured a degenerative over a vascular dementia. Interestingly, an immunohistochemical study revealed that, similar to causing dense-cored amyloid plaques, CAA also appeared capable of instigating a strong local dystrophic and inflammatory reaction. This was suggested by the observed neuronal loss, the presence of tau- and ubiquitin-positive neurites, micro- and astrogliosis, and complement activation. Together, these data suggest that, like the dense-cored neuritic plaques, CAA might represent a pathogenic lesion that contributes significantly to the progressive neurodegen…

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Human PSEN1 mutation carriers have notable BBB breakdown and cerebrovascular dysfunction including cerebellar amyloid angiopathy and CAA, disrupted meningeal, subpial, and cortical arterioles, degeneration of pericytes and SMCs, cerebral perivascular amyloid deposits, and diminished FDG transport across the BBB in an early asymptomatic stage.
“Human PSEN1 mutation carriers have notable BBB breakdown and cerebrovascular dysfunction including cerebellar amyloid angiopathy and CAA (143, 183, 274, 280, 354, 389, 440, 500, 544, 573, 639, 668); disrupted meningeal, subpial, and cortical arterioles (274, 389, 440); degeneration of pericytes and SMCs (573); cerebral perivascular amyloid deposits (25, 274, 289, 354, 573, 668); and diminished FDG”
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Authors: Dermaut, B.
Affiliations: University of Antwerp (BE)
Corresponding author: Dermaut, B.
ORCID: Dermaut, B.
Venue: Brain
Publisher: Oxford University Press (OUP)
Published: 2001-12-01
Volume: 124
Issue: 12
Pages: 2383-2392
ISSN: 0006-8950 (ISSN-L)
1460-2156
DOI: 10.1093/brain/124.12.2383
OpenAlex: W2155957433
Cited by: 74
References: 30
Citations by year: 2025: 1 · 2022: 1 · 2021: 2 · 2020: 3 · 2019: 2 · 2018: 1 · 2017: 1 · 2016: 1 · 2015: 2 · 2014: 2 · 2013: 1 · 2012: 3
FWCI: 3.19
Type: journal article
Language: en
Open access: closed
Locations: Brain (publishedVersion)
PubMed (publishedVersion)
Ghent University Academic Bibliography (Ghent University) (submittedVersion)
Funders: Fonds Wetenschappelijk Onderzoek
Chinese Academy of Agricultural Sciences
Vlaamse regering
Topics: Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
Health Sciences › Medicine › Neurology › Intracerebral and Subarachnoid Hemorrhage Research
Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
Keywords: cerebral amyloid angiopathy, Alzheimer's disease, presenilin 1, early-onset Alzheimer's disease, family studies, dystrophic neurites, neuroinflammation, complement activation, astrocyte activation, neurodegeneration, amyloid precursor protein
MeSH terms: Adult, Alzheimer Disease, Cell Line, Family Health, Female, Frontal Lobe, Genotype, Humans, Immunohistochemistry, Kidney, Male, Membrane Proteins, Middle Aged, Mutation, Pedigree, Radionuclide Imaging, Polymorphism, Restriction Fragment Length, Amyloid beta-Peptides, Mutagenesis, Site-Directed, Fatal Outcome, Cerebral Amyloid Angiopathy, Familial, Presenilin-1

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Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation

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