Amyloid β in hereditary cerebral hemorrhage with amyloidosis-Dutch type
Open accessAbstract
Hereditary cerebral hemorrhage with amyloidosis – Dutch type is an autosomal dominant hereditary disease caused by a point mutation in the amyloid precursor protein gene on chromosome 21. The mutation causes an amino acid substitution at codon 693 (E22Q), the ‘Dutch mutation’. Amyloid β, the product after cleavage of the amyloid precursor protein, is secreted into the extracellular space. The Dutch mutation leads to altered amyloid β cleavage and secretion, enhanced aggregation properties, higher proteolysis resistance, lowered brain efflux transporter affinity, and enhanced cell surfaces binding. All these result in amyloid β accumulation in cerebral vessel walls, causing cell death and vessel wall integrity loss, making cerebral vessel walls in hereditary cerebral hemorrhage with amyloidosis-Dutch type more prone to rupture and obstruction, leading to hemorrhages and infarcts. Studying the effects of altered amyloid β metabolism due to mutations like the ‘Dutch’ provides us with a better understanding of amyloid β toxicity, also in other amyloid β diseases like sporadic cerebral amyloid angiopathy and Alzheimer’s disease.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The Dutch APP mutation leads to recurrent hemorrhages due to damage of the arterial vessel wall by CAA, known as hereditary cerebral hemorrhage with amyloidosis, which is often fatal by midlife.
“For example, the Dutch mutation leads to recurrent hemorrhages due to damage of the arterial vessel wall by the CAA, known as hereditary cerebral hemorrhage with amyloidosis (HCHWA-D), which is often fatal by midlife (302, 356).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [302]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
ApoE-Directed Therapeutics Rapidly Clear β-Amyloid and Reverse Deficits in AD Mouse Models
Cramer, P. E., Cirrito, J. R., Wesson, D. W., Lee, C. Y. D., Karlo, J. C., Zinn, A. E., Casali, B. T., Restivo, J. L., Goebel, W. D., James, M. J., et al. (2012) · Science · doi:10.1126/science.1217697 · Cited by 1,050 · see citing works
Herzig, M. C., Winkler, D. T., Burgermeister, P., Pfeifer, M., Kohler, E., Schmidt, S. D., Danner, S., Abramowski, D., Stürchler-Pierrat, C., Bürki, K., et al. (2004) · Nature Neuroscience · doi:10.1038/nn1302 · Cited by 391 · see citing works
A phase 2 randomized trial of ELND005, scyllo-inositol, in mild to moderate Alzheimer disease
Salloway, S., Sperling, R., Keren, R., Porsteinsson, A. P., van Dyck, C. H., Tariot, P. N., Gilman, S., Arnold, D., Abushakra, S., Hernandez, C., et al. (2011) · Neurology · doi:10.1212/wnl.0b013e3182309fa5 · Cited by 258 · cited 1× · see citing works
“clinical efficiency outcomes in a phase two clinical trial of AD patients using 250 mg Scyllo-inositol were not significantly different from placebo, and higher dose studies were discontinued due to increased infections and mortalities (Salloway et al., 2011).”
BackgroundNatté, R., Maat‐Schieman, M. L. C., Haan, J., Bornebroek, M., Roos, R. A. C., & Van Duinen, S. G. (2001) · Annals of Neurology · doi:10.1002/ana.10040 · Cited by 166 · see citing works
Self-citationBasun, H., Bogdanovic, N., Ingelsson, M., Almkvist, O., Näslund, J., Axelman, K., Bird, T. D., Nochlin, D., Schellenberg, G. D., Wahlund, L.-O., et al. (2008) · Archives of Neurology · doi:10.1001/archneur.65.4.499 · Cited by 115 · see citing works
Flagged first, then by citations
Research works printed but not linked: 2
- Corder, E.H., Saunders, A.M., Strittmatter, W.J., Schmechel, D.E., Gaskell, P.C., Small, G.W., Roses, A.D., Haines, J.L., and Peri- cak-Vance, M.A. (1993). Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 261, 921-923.
- Maat-Schieman, M.L., van Duinen, S.G., Bornebroek, M., Haan, J., and Roos, R.A. (1996). Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D): II -a review of histopatho- logical aspects. Brain Pathol. 6, 115-120.
Cited by
Sorted by citations
Blood-Brain Barrier: From Physiology to Disease and Back
Sweeney, M. D., Zhao, Z., Montagne, A., Nelson, A. R., & Zlokovic, B. V. (2019) · Physiological Reviews · doi:10.1152/physrev.00050.2017 · Cited by 2,294 · see citing works
Alzheimer's disease: experimental models and reality
Drummond, E., & Wisniewski, T. (2017) · Acta Neuropathologica · doi:10.1007/s00401-016-1662-x · Cited by 810 · see citing works
- Authors
- Kamp, J. A., Moursel, L. G., Haan, J., Terwindt, G. M., Lesnik Oberstein, S. A. M. J., van Duinen, S. G., & van Roon-Mom, W. M. C.
- Affiliations
- Leiden University Medical Center (NL)
- Department of Clinical Genetics, Leiden University Medical Center, NL-2300 RC Leiden, The Netherlands
- Department of Pathology, Leiden University Medical Center, NL-2300 RC Leiden, The Netherlands
- Department of Human Genetics, Leiden University Medical Center, NL-2300 RC Leiden, The Netherlands
- Venue
- Reviews in the Neurosciences
- Publisher
- Walter de Gruyter GmbH
- Published
- 2014-05-28
- Volume
- 25
- Issue
- 5
- Pages
- 641-651
- ISSN
- 0334-1763 (ISSN-L)
- 2191-0200
- OpenAlex
- W2064179036
- Cited by
- 36
- References
- 5
- Citations by year
- 2024: 7 · 2023: 5 · 2022: 4 · 2021: 4 · 2020: 5 · 2019: 3 · 2018: 4 · 2017: 2 · 2016: 2
- FWCI
- 0.16
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Reviews in the Neurosciences (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Leiden Repository (Leiden University) (submittedVersion)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Neurology › Intracerebral and Subarachnoid Hemorrhage Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Amyloidosis: Diagnosis, Treatment, Outcomes
- Keywords
- hereditary cerebral hemorrhage with amyloidosis-Dutch type, amyloid-beta, amyloid precursor protein, amyloid-beta aggregation, amyloid-beta secretion, protease resistance, hemorrhage, infarction, amyloid-beta toxicity, sporadic cerebral amyloid angiopathy, Alzheimer's disease
- MeSH terms
- Humans, Mutation, Amyloid beta-Peptides, Cerebral Amyloid Angiopathy, Familial, Plaque, Amyloid, Proteolysis
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
