ArticleThe American journal of pathology2001
Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease.
Article in The American journal of pathology, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers, 3 of them syntheses that pooled it.
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Who cites it
77 citing papers in PubMed, 3 syntheses or guidelines pooled it, 188 citations in OpenAlex.
- Neurological manifestations of autosomal dominant familial Alzheimer's disease: a comparison of the published literature with the Dominantly Inherited Alzheimer Network observational study (DIAN-OBS).The Lancet. Neurology · 2016Pooled it
- Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis.Neurology · 2014Pooled it
- Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors.Genetics in medicine : official journal of the American College of Medical Genetics · 2011Guideline
- Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.Nature communications · 2025Article
- Presenilin-1 C779T Mutation Presenting With Rapidly Progressive Dementia and Medial Temporal Lobe MRI Changes.Case reports in neurological medicine · 2025Article
- Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.medRxiv : the preprint server for health sciences · 2024Article
- Article
- Amyloid-β peptide signature associated with cerebral amyloid angiopathy in familial Alzheimer's disease with APPdup and Down syndrome.Acta neuropathologica · 2024Article
- Presenilin-1 mutation position influences amyloidosis, small vessel disease, and dementia with disease stage.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Molecular neuroimaging in dominantly inherited versus sporadic early-onset Alzheimer's disease.Brain communications · 2024Article
- Advanced structural brain aging in preclinical autosomal dominant Alzheimer disease.Molecular neurodegeneration · 2023Article
- CSF proteomics in autosomal dominant Alzheimer's disease highlights parallels with sporadic disease.Brain : a journal of neurology · 2023Article
- Clinical considerations in early-onset cerebral amyloid angiopathy.Brain : a journal of neurology · 2023Review
- Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2023Article
- Observational
- Characterization of spastic paraplegia in a family with a novelBrain communications · 2023Article
- The PSEN1 E280G mutation leads to increased amyloid-β43 production in induced pluripotent stem cell neurons and deposition in brain tissue.Brain communications · 2023Article
- Autosomal dominant and sporadic late onset Alzheimer's disease share a common in vivo pathophysiology.Brain : a journal of neurology · 2022Article
- Progressive cognitive impairment and familial spastic paraparesis due to PRESENILIN 1 mutation: anatomoclinical characterization.Journal of neurology · 2022Article
- 11C-PiB PET can underestimate brain amyloid-β burden when cotton wool plaques are numerous.Brain : a journal of neurology · 2022Article
17 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The presenilins (PSs) are components of large molecular complexes that contain beta-catenin and function as gamma-secretase. We report here a striking correlation between amyloid angiopathy and the location of mutation in PS-1 linked Alzheimer's disease. The amount of amyloid beta protein, Abeta(42(43)), but not Abeta(40,) deposited in the frontal cortex of the brain is increased in 54 cases of early-onset familial Alzheimer's disease, encompassing 25 mutations in the presenilin-1 (PS-1) gene, compared to sporadic Alzheimer's disease. The amount of Abeta(40) in PS-1 Alzheimer's disease varied according to the copy number of epsilon4 alleles of the Apolipoprotein E gene. Although the amounts of Abeta(40) and Abeta(42(43)) deposited did not correlate with the genetic location of the mutation in a strict linear sense, the histological profile did so vary. Cases with mutations between codon 1 and 200 showed, in frontal cortex, many diffuse plaques, few cored plaques, and mild or moderate amyloid angiopathy. Cases with mutations occurring after codon 200 also showed many diffuse plaques, but the number and size of cored plaques were increased (even when epsilon4 allele was not present) and these were often clustered around blood vessels severely affected by amyloid angiopathy. Similarly, diverging histological profiles, mainly according to the degree of amyloid angiopathy, were seen in the cerebellum. Mutations in the PS-1 gene may therefore alter the topology of the PS-1 protein so as to favor Abeta formation and deposition, generally, but also to facilitate amyloid angiopathy particularly in cases in which the mutation lies beyond codon 200. Finally we report that the amount of Abeta(42(43)) deposited in the brain correlated with the amount of this produced in culture by cells bearing the equivalent mutations.
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