Amyloid angiopathy in a volga german family with Alzheimer's disease and a presenilin‐2 mutation (N141I)
Abstract
We report the neuropathological features in 6 members of a Volga German family with autosomal dominant Alzheimer's disease linked to chromosome 1 who had a presenilin‐2 mutation (N 141 I). The most significant feature in this family was the presence of severe or moderately severe amyloid angiopathy in five family members with clinical dementia. The index case with the presenilin‐2 mutation had late‐onset dementia at age 73 years, died of an acute intracerebral hemorrhage, and pathologically showed severe amyloid angiopathy but only rare neuritic senile plaques and neurofibrillary tangles. That she was apolipoprotein E ϵ2/3 heterozygous suggests that the ϵ2 allele may have exerted a selective protective effect resulting in late onset relatively mild Alzheimer's disease despite severe amyloid angiopathy. This family emphasizes the need for more investigation into the role of presenilin mutation in amyloid deposition, especially in the cerebral vasculature, and the role of these changes in clinical dementia.
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PSEN2 N141I mutation carriers have severe CAA and hemorrhagic strokes, but sparse parenchymal amyloid and neurofibrillary tangles.
“PSEN2 N141I mutation carriers have severe CAA and hemorrhagic strokes, but sparse parenchymal amyloid and neurofibrillary tangles (442).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [442]
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- Authors
- Nochlin, D., Bird, T. D., Nemens, E. J., Ball, M. J., & Sumi, S. M.
- Affiliations
- University of Washington (US)
- Oregon Health & Science University (US)
- Corresponding author
- Nochlin, David
- ORCID
- Bird, Thomas D.
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 1998-01
- Volume
- 43
- Issue
- 1
- Pages
- 131-135
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W1980530150
- Cited by
- 75
- References
- 23
- Citations by year
- 2026: 1 · 2025: 5 · 2024: 3 · 2023: 1 · 2022: 3 · 2020: 1 · 2019: 1 · 2018: 1 · 2017: 1 · 2016: 1 · 2015: 1 · 2013: 1 · 2012: 1
- FWCI
- 2.66
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute on Aging (AG 08017, AG 05136, U01AG006781, P30AG008017, AG-06781, P50AG005136)
- 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
- amyloid angiopathy, Alzheimer's disease, autosomal dominant Alzheimer's disease, chromosome 1, intracerebral hemorrhage, neurofibrillary tangles, late-onset dementia, cerebral amyloid deposition
- MeSH terms
- Aged, Alzheimer Disease, Apolipoproteins E, Brain, Female, Humans, Immunohistochemistry, Male, Membrane Proteins, Middle Aged, Mutation, Pedigree, Cerebral Amyloid Angiopathy, Presenilin-2
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