Cited by 182Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchIntracerebral and Subarachnoid Hemorrhage Research

The DOI matches its Crossref record; 65 of the 66 references it cites were found in a registry or an index.

Amyloid Angiopathy and Variability in Amyloid β Deposition Is Determined by Mutation Position in Presenilin-1-Linked Alzheimer’s Disease

Open access

Mann, David M.A., Pickering-Brown, Stuart M., Takeuchi, Ayano, Iwatsubo, Takeshi·2001·The American Journal of Pathology

DOI 10.1016/s0002-9440(10)64688-3PMC PMC1891993

Open this paper in CoChat — free account Open PDF

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.

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

Crossref · 10.1016/s0002-9440(10)64688-3

Cites

65 of 65 references verified0 citation errors · 0 not checkable

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?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
Sherrington, R., Rogaev, E. I., Liang, Y., Rogaeva, E. A., Levesque, G., Ikeda, M., Chi, H., Lin, C., Li, G., Holman, K., et al. (1995) · Nature · doi:10.1038/375754a0 · Cited by 4,051
Secreted amyloid β–protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease
Scheuner, D., Eckman, C., Jensen, M., Song, X., Citron, M., Suzuki, N., Bird, T. D., Hardy, J., Hutton, M., Kukull, W., et al. (1996) · Nature Medicine · doi:10.1038/nm0896-864 · Cited by 2,599
Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and γ-secretase activity
Wolfe, M. S., Xia, W., Ostaszewski, B. L., Diehl, T. S., Kimberly, W. T., & Selkoe, D. J. (1999) · Nature · doi:10.1038/19077 · Cited by 1,959
Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein
De Strooper, B., Saftig, P., Craessaerts, K., Vanderstichele, H., Guhde, G., Annaert, W., Von Figura, K., & Van Leuven, F. (1998) · Nature · doi:10.1038/34910 · Cited by 1,818
Visualization of Aβ42(43) and Aβ40 in senile plaques with end-specific Aβ monoclonals: Evidence that an initially deposited species is Aβ42(43)
Iwatsubo, T., Odaka, A., Suzuki, N., Mizusawa, H., Nukina, N., & Ihara, Y. (1994) · Neuron · doi:10.1016/0896-6273(94)90458-8 · Cited by 1,774
Self-citation
Increased amyloid-β42(43) in brains of mice expressing mutant presenilin 1
Duff, K., Eckman, C., Zehr, C., Yu, X., Prada, C.-M., Pérez‐Tur, J., Hutton, M., Buée, L., Harigaya, Y., Yager, D., et al. (1996) · Nature · doi:10.1038/383710a0 · Cited by 1,486
Familial Alzheimer's Disease–Linked Presenilin 1 Variants Elevate Aβ1–42/1–40 Ratio In Vitro and In Vivo
Borchelt, D. R., Thinakaran, G., Eckman, C. B., Lee, M. K., Davenport, F., Ratovitsky, T., Prada, C.-M., Kim, G., Seekins, S., Yager, D., et al. (1996) · Neuron · doi:10.1016/s0896-6273(00)80230-5 · Cited by 1,478
Accelerated Alzheimer-type phenotype in transgenic mice carrying both mutant amyloid precursor protein and presenilin 1 transgenes
Holcomb, L., Gordon, M. N., McGowan, E., Yu, X., Benkovic, S., Jantzen, P., Wright, K., Saad, I., Mueller, R., Morgan, D., et al. (1998) · Nature Medicine · doi:10.1038/nm0198-097 · Cited by 1,386
Amyloid, the presenilins and Alzheimer’s disease
Hardy, J. (1997) · Trends in Neurosciences · doi:10.1016/s0166-2236(96)01030-2 · Cited by 1,370
Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice
Citron, M., Westaway, D., Xia, W., Carlson, G., Diehl, T., Levesque, G., Johnson-wood, K., Lee, M., Seubert, P., Davis, A., et al. (1997) · Nature Medicine · doi:10.1038/nm0197-67 · Cited by 1,271

Show all 66 references

Research works printed but not linked: 2

Mann, 1992, The time course of pathological events concerned with plaque formation in Down's syndrome with particular reference to the involvement of microglial cells, Neurodegeneration, 1, 201
Perez-Tur, 1996, Identification of a mutation in Alzheimer's disease which destroys a splice acceptor site in the presenilin-1 gene, Neuroreport, 7, 204

Sorted by citations

Molecular and cellular mechanisms underlying the pathogenesis of Alzheimer’s disease
Guo, T., Zhang, D., Zeng, Y., Huang, T. Y., Xu, H., & Zhao, Y. (2020) · Molecular Neurodegeneration · doi:10.1186/s13024-020-00391-7 · Cited by 994
Network abnormalities and interneuron dysfunction in Alzheimer disease
Palop, J. J., & Mucke, L. (2016) · Nature reviews. Neuroscience · doi:10.1038/nrn.2016.141 · Cited by 1,022
Cerebral amyloid angiopathy and Alzheimer disease — one peptide, two pathways
Greenberg, S. M., Bacskai, B. J., Hernandez-Guillamon, M., Pruzin, J., Sperling, R., & van Veluw, S. J. (2020) · Nature Reviews Neurology · doi:10.1038/s41582-019-0281-2 · Cited by 947
Alzheimer’s disease: A matter of blood–brain barrier dysfunction?
Montagne, A., Zhao, Z., & Zlokovic, B. V. (2017) · Journal of Experimental Medicine · doi:10.1084/jem.20171406 · Cited by 672
Autosomal-dominant Alzheimer's disease: a review and proposal for the prevention of Alzheimer's disease
Bateman, R. J., Aisen, P. S., De Strooper, B., Fox, N. C., Lemere, C. A., Ringman, J. M., Salloway, S., Sperling, R. A., Windisch, M., & Xiong, C. (2010) · Alzheimer's Research & Therapy · doi:10.1186/alzrt59 · Cited by 573
Symptom onset in autosomal dominant Alzheimer disease: A systematic review and meta-analysis
Ryman, D. C., Acosta-Baena, N., Aisen, P. S., Bird, T., Danek, A., Fox, N. C., Goate, A., Frommelt, P., Ghetti, B., Langbaum, J. B. S., et al. (2014) · Neurology · doi:10.1212/wnl.0000000000000596 · Cited by 502
Amyloid Deposition Begins in the Striatum of Presenilin-1 Mutation Carriers from Two Unrelated Pedigrees
Klunk, W. E., Price, J. C., Mathis, C. A., Tsopelas, N. D., Lopresti, B. J., Ziolko, S. K., Bi, W., Hoge, J. A., Cohen, A. D., Ikonomovic, M. D., et al. (2007) · Journal of Neuroscience · doi:10.1523/jneurosci.0730-07.2007 · Cited by 389
Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors
Goldman, J. S., Hahn, S. E., Catania, J. W., Larusse-Eckert, S., Butson, M. B., Rumbaugh, M., Strecker, M. N., Roberts, J. S., Burke, W., Mayeux, R., et al. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e31821d69b8 · Cited by 393
Regional variability of imaging biomarkers in autosomal dominant Alzheimer's disease
Benzinger, T. L. S., Blazey, T., Jack, C. R., Koeppe, R. A., Su, Y., Xiong, C., Raichle, M. E., Snyder, A. Z., Ances, B. M., Bateman, R. J., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1317918110 · Cited by 391
Review: sporadic cerebral amyloid angiopathy
Attems, J., Jellinger, K., Thal, D. R., & Van Nostrand, W. (2011) · Neuropathology and Applied Neurobiology · doi:10.1111/j.1365-2990.2010.01137.x · Cited by 371
Phenotype associated with APP duplication in five families
Cabrejo, L., Guyant‐Maréchal, L., Laquerrière, A., Vercelletto, M., Fournière, F. D. L., Thomas-Antérion, C., Verny, C., Letournel, F., Pasquier, F., Vital, A., et al. (2006) · Brain · doi:10.1093/brain/awl237 · Cited by 351
Cerebral amyloid angiopathy and its relationship to Alzheimer’s disease
Thal, D. R., Griffin, W. S. T., de Vos, R. A. I., & Ghebremedhin, E. (2008) · Acta Neuropathologica · doi:10.1007/s00401-008-0366-2 · Cited by 372
Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Aβ42 and decreased Aβ40
Kumar‐Singh, S., Theuns, J., Broeck, B. V., Pirici, D. N., Vennekens, K., Corsmit, E., Cruts, M., Dermaut, B., Wang, R., & Broeckhoven, C. V. (2006) · Human Mutation · doi:10.1002/humu.20336 · Cited by 330
Imbalance between firing homeostasis and synaptic plasticity drives early-phase Alzheimer’s disease
Styr, B., & Slutsky, I. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0080-x · Cited by 327
Multisite study of the relationships between antemortem [ 11 C]PIB‐PET Centiloid values and postmortem measures of Alzheimer's disease neuropathology
La Joie, R., Ayakta, N., Seeley, W. W., Borys, E., Boxer, A. L., DeCarli, C., Doré, V., Grinberg, L. T., Huang, E., Hwang, J., et al. (2019) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2018.09.001 · Cited by 317
Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies
Révész, T., Holton, J. L., Lashley, T., Plant, G. T., Frangione, B., Rostagno, A. A., & Ghiso, J. A. (2009) · Acta Neuropathologica · doi:10.1007/s00401-009-0501-8 · Cited by 300
Cerebral Amyloid Angiopathies: A Pathologic, Biochemical, and Genetic View
Révész, T., Ghiso, J. A., Lashley, T., Plant, G. T., Rostagno, A. A., Frangione, B., & Holton, J. L. (2003) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/62.9.885 · Cited by 286
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin–1 gene
Larner, A. J., & Doran, M. (2005) · Journal of Neurology · doi:10.1007/s00415-005-0019-5 · Cited by 264
The genetics and neuropathology of Alzheimer’s disease
Schellenberg, G. D., & Montine, T. J. (2012) · Acta Neuropathologica · doi:10.1007/s00401-012-0996-2 · Cited by 256
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer’s disease: a case series
Ryan, N. S., Nicholas, J. M., Weston, P. S. J., Liang, Y., Lashley, T., Guerreiro, R. J., Adamson, G., Kenny, J., Beck, J. A., Chávez‐Gutiérrez, L., et al. (2016) · The Lancet Neurology · doi:10.1016/s1474-4422(16)30193-4 · Cited by 241
Capillary and arterial cerebral amyloid angiopathy in Alzheimer's disease: defining the perivascular route for the elimination of amyloid β from the human brain
Preston, S., Steart, P. V., Wilkinson, A., Nicoll, J. A. R., & Weller, R. O. (2003) · Neuropathology and Applied Neurobiology · doi:10.1046/j.1365-2990.2003.00424.x · Cited by 245
Sporadic cerebral amyloid angiopathy: pathology, clinical implications, and possible pathomechanisms
Attems, J. (2005) · Acta Neuropathologica · doi:10.1007/s00401-005-1074-9 · Cited by 242
CLAC: a novel Alzheimer amyloid plaque component derived from a transmembrane precursor, CLAC‐P/collagen type XXV
Hashimoto, T., Wakabayashi, T., Watanabe, A., Kowa, H., Hosoda, R., Nakamura, A., Kanazawa, I., Arai, T., Takio, K., Mann, D. M. A., et al. (2002) · The EMBO Journal · doi:10.1093/emboj/21.7.1524 · Cited by 223
Self-citation
Early-Onset Familial Alzheimer's Disease (EOFAD)
Wu, L., Rosa‐Neto, P., Hsiung, G. R., Sadovnick, A. D., Masellis, M., Black, S. E., Jia, J., & Gauthier, S. G. (2012) · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · doi:10.1017/s0317167100013949 · Cited by 240
Sporadic and Familial Cerebral Amyloid Angiopathies
Révész, T., Holton, J. L., Lashley, T., Plant, G. T., Rostagno, A. A., Ghiso, J. A., & Frangione, B. (2002) · Brain Pathology · doi:10.1111/j.1750-3639.2002.tb00449.x · Cited by 204
Comparison of amyloid PET measured in Centiloid units with neuropathological findings in Alzheimer’s disease
Amadoru, S., Doré, V., McLean, C. A., Hinton, F., Shepherd, C. E., Halliday, G. M., Leyton, C. E., Yates, P. A., Hodges, J. R., Masters, C. L., et al. (2020) · Alzheimer's Research & Therapy · doi:10.1186/s13195-020-00587-5 · Cited by 181
Alzheimer’s disease pathology influences severity and topographical distribution of cerebral amyloid angiopathy
Attems, J., Jellinger, K. A., & Lintner, F. (2005) · Acta Neuropathologica · doi:10.1007/s00401-005-1064-y · Cited by 188
Neuropathologic Features of Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions With Progranulin Gene (PGRN) Mutations
Josephs, K. A., Ahmed, Z., Katsuse, O., Parisi, J. F., Boeve, B. F., Knopman, D. S., Petersen, R. C., Davies, P., Duara, R., Graff‐Radford, N. R., et al. (2007) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e31803020cf · Cited by 184
Only cerebral capillary amyloid angiopathy correlates with Alzheimer pathology?a pilot study
Attems, J., & Jellinger, K. A. (2004) · Acta Neuropathologica · doi:10.1007/s00401-003-0796-9 · Cited by 183
Correlating familial Alzheimer’s disease gene mutations with clinical phenotype
Ryan, N. S., & Rossor, M. N. (2010) · Biomarkers in Medicine · doi:10.2217/bmm.09.92 · Cited by 176
Mechanism of Cerebral β-Amyloid Angiopathy: Murine and Cellular Models
Herzig, M. C., Nostrand, W. E. V., & Jucker, M. (2006) · Brain Pathology · doi:10.1111/j.1750-3639.2006.tb00560.x · Cited by 172
Pathogenesis of cerebral amyloid angiopathy
Rensink, A. A. M., de Waal, R. M. W., Kremer, B. P. H., & Verbeek, M. M. (2003) · Brain Research Reviews · doi:10.1016/j.brainresrev.2003.08.001 · Cited by 159
Characteristics of Aquaporin Expression Surrounding Senile Plaques and Cerebral Amyloid Angiopathy in Alzheimer Disease
Hoshi, A., Yamamoto, T., Shimizu, K., Ugawa, Y., Nishizawa, M., Takahashi, H., & Kakita, A. (2012) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e3182632566 · Cited by 146
A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences
Shea, Y. F., Chu, L., Chan, A. O.-K., Ha, J. C. T., Li, Y., & Song, Y. (2015) · Journal of the Formosan Medical Association · doi:10.1016/j.jfma.2015.08.004 · Cited by 148
FAD mutant PS-1 gene-targeted mice: increased Aβ42 and Aβ deposition without APP overproduction
Flood, D. (2002) · Neurobiology of Aging · doi:10.1016/s0197-4580(01)00330-x · Cited by 131
Variations in the neuropathology of familial Alzheimer’s disease
Shepherd, C. E., McCann, H., & Halliday, G. M. (2009) · Acta Neuropathologica · doi:10.1007/s00401-009-0521-4 · Cited by 135
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)
Tang, M., Ryman, D. C., McDade, E., Jasielec, M. S., Buckles, V. D., Cairns, N. J., Fagan, A. M., Goate, A., Marcus, D. S., Xiong, C., et al. (2016) · The Lancet Neurology · doi:10.1016/s1474-4422(16)30229-0 · Cited by 121
Topographical distribution of cerebral amyloid angiopathy and its effect on cognitive decline are influenced by Alzheimer disease pathology
Attems, J., Quass, M., Jellinger, K. A., & Lintner, F. (2007) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2007.01.013 · Cited by 126
Early Onset of Hypersynchronous Network Activity and Expression of a Marker of Chronic Seizures in the Tg2576 Mouse Model of Alzheimer’s Disease
Bezzina, C., Verret, L., Juan, C., Remaud, J., Halley, H., Rampon, C., & Dahan, L. (2015) · PLoS ONE · doi:10.1371/journal.pone.0119910 · Cited by 121
Dense-Core Senile Plaques in the Flemish Variant of Alzheimer's Disease Are Vasocentric
Kumar-Singh, S., Cras, P., Wang, R., Kros, J. M., van Swieten, J., Lübke, U., Ceuterick, C., Serneels, S., Vennekens, K., Timmermans, J.-P., et al. (2002) · The American Journal of Pathology · doi:10.1016/s0002-9440(10)64207-1 · Cited by 114
Cerebral amyloid angiopathy: Pathogenesis and effects on the ageing and Alzheimer brain
Weller, R. O., & Nicoll, J. A. R. (2003) · Neurological Research · doi:10.1179/016164103101202057 · Cited by 114
Seizures in dominantly inherited Alzheimer disease
Zaréa, A., Charbonnier, C., Rovelet‐Lecrux, A., Nicolas, G., Rousseau, S., Borden, A., Pariente, J., Ber, I. L., Pasquier, F., Formaglio, M., et al. (2016) · Neurology · doi:10.1212/wnl.0000000000003048 · Cited by 109
The Mechanical Cause of Age-Related Dementia (Alzheimer's Disease): The Brain is Destroyed by the Pulse
Stone, J., Johnstone, D. M., Mitrofanis, J., & O’Rourke, M. F. (2015) · Journal of Alzheimer s Disease · doi:10.3233/jad-141884 · Cited by 113
Neuropathology of Autosomal Dominant Alzheimer Disease in the National Alzheimer Coordinating Center Database
Ringman, J. M., Monsell, S., Ng, D. W., Zhou, Y., Nguyen, A., Coppola, G., Van Berlo, V., Mendez, M. F., Tung, S., Weintraub, S., et al. (2016) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/nlv028 · Cited by 99
Understanding the roles of mutations in the amyloid precursor protein in Alzheimer disease
Hunter, S., & Brayne, C. (2018) · Molecular Psychiatry · doi:10.1038/mp.2017.218 · Cited by 94
Cerebral amyloid angiopathy: pathogenetic mechanisms and link to dense amyloid plaques
Kumar‐Singh, S. (2008) · Genes Brain & Behavior · doi:10.1111/j.1601-183x.2007.00380.x · Cited by 101
Clinical, Pathological, and Biochemical Spectrum of Alzheimer Disease Associated With PS-1 Mutations
Lleó, A., Berezovska, O., Growdon, J. H., & Hyman, B. T. (2004) · American Journal of Geriatric Psychiatry · doi:10.1097/00019442-200403000-00006 · Cited by 94
Cerebral Amyloid Angiopathy
(2012) · Progress in Molecular Biology and Translational Science · doi:10.1016/b978-0-12-385883-2.00006-0 · Cited by 84
Carbon-11-Pittsburgh compound B positron emission tomography imaging of amyloid deposition in presenilin 1 mutation carriers
Knight, W. D., Okello, A., Ryan, N. S., Turkheimer, F., de Llano, S. R. M., Edison, P., Douglas, J., Fox, N. C., Brooks, D. J., & Rossor, M. N. (2010) · Brain · doi:10.1093/brain/awq310 · Cited by 86
Plasma glial fibrillary acidic protein in autosomal dominant Alzheimer's disease: Associations with Aβ‐PET, neurodegeneration, and cognition
Chatterjee, P., Vermunt, L., Gordon, B. A., Pedrini, S., Boonkamp, L., Armstrong, N. J., Xiong, C., Singh, A. K., Li, Y., Sohrabi, H. R., et al. (2022) · Alzheimer s & Dementia · doi:10.1002/alz.12879 · Cited by 91
Presenilin-1 mutation Alzheimer's disease: A genetic epilepsy syndrome?
Larner, A. J. (2011) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2011.03.022 · Cited by 77
Cerebral Amyloid Angiopathy: A Common Cause of Cerebral Hemorrhage
Pezzini, A., Zotto, E. D., Volonghi, I., Giossi, A., Costa, P., & Padovani, A. (2009) · Current Medicinal Chemistry · doi:10.2174/092986709788682047 · Cited by 77
Comparison of Aβ levels in the brain of familial and sporadic Alzheimer's disease
Hellström‐Lindahl, E., Viitanen, M. H., & Marutle, A. (2009) · Neurochemistry International · doi:10.1016/j.neuint.2009.03.007 · Cited by 78
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 · Cited by 74
Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features
Giaccone, G., Morbin, M., Moda, F., Botta, M., Mazzoleni, G., Uggetti, A., Catania, M., Moro, M. L., Redaelli, V., Spagnoli, A., et al. (2010) · Acta Neuropathologica · doi:10.1007/s00401-010-0747-1 · Cited by 73
Patterns and severity of vascular amyloid in Alzheimer’s disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer’s disease
Mann, D. M. A., Davidson, Y. S., Robinson, A. C., Allen, N., Hashimoto, T., Richardson, A., Jones, M., Snowden, J. S., Pendleton, N., Potier, M.-C., et al. (2018) · Acta Neuropathologica · doi:10.1007/s00401-018-1866-3 · Cited by 73
Self-citation
Variant-dependent heterogeneity in amyloid β burden in autosomal dominant Alzheimer's disease: cross-sectional and longitudinal analyses of an observational study
Chhatwal, J. P., Schultz, S. A., McDade, E., Schultz, A. P., Liu, L., Hanseeuw, B. J., Joseph‐Mathurin, N., Feldman, R. L., Fitzpatrick, C. D., Sparks, K. P., et al. (2022) · The Lancet Neurology · doi:10.1016/s1474-4422(21)00375-6 · Cited by 76
Genetic determinants of white matter hyperintensities and amyloid angiopathy in familial Alzheimer's disease
Ryan, N. S., Biessels, G. J., Kim, L. G., Nicholas, J. M., Barber, P. A., Walsh, P., Gami‐Patel, P., Morris, H. R., de Bastos-Leite, A. J., Schott, J. M., et al. (2015) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2015.08.026 · Cited by 72
Autosomal dominant and sporadic late onset Alzheimer's disease share a common in vivo pathophysiology
Morris, J. C., Weiner, M., Xiong, C., Beckett, L., Coble, D., Saito, N., Aisen, P. S., Allegri, R., Benzinger, T. L. S., Berman, S. B., et al. (2022) · Brain · doi:10.1093/brain/awac181 · Cited by 68
Phenotypic Profile of Early-Onset Familial Alzheimer's Disease Caused by Presenilin-1 E280A Mutation
Sepulveda-Falla, D., Glatzel, M., & Lopera, F. (2012) · Journal of Alzheimer's Disease · doi:10.3233/jad-2012-120907 · Cited by 75
Apolipoprotein E ε4 Allele Frequency and Age at Onset of Alzheimer’s Disease
Davidson, Y. S., Gibbons, L., Pritchard, A. L., Hardicre, J., Wren, J., Stopford, C. L., Julien, C. L., Thompson, J. C., Payton, A., Pickering-Brown, S. M., et al. (2006) · Dementia and Geriatric Cognitive Disorders · doi:10.1159/000097038 · Cited by 65
Self-citation
Invited Article: The Alzheimer disease–frontotemporal lobar degeneration spectrum
van der Zee, J., Sleegers, K., & Broeckhoven, C. V. (2008) · Neurology · doi:10.1212/01.wnl.0000327523.52537.86 · Cited by 60
CSF proteomics in autosomal dominant Alzheimer’s disease highlights parallels with sporadic disease
van der Ende, E. L., Veld, S. G. J. G. I. ‘., Hanskamp, I., van der Lee, S. J., Dijkstra, J. I. R., Hok‐A‐Hin, Y. S., Blujdea, E. R., Swieten, J. C. V., Irwin, D. J., Chen‐Plotkin, A. S., et al. (2023) · Brain · doi:10.1093/brain/awad213 · Cited by 59
Thymoquinone Prevents β-Amyloid Neurotoxicity in Primary Cultured Cerebellar Granule Neurons
Ismail, N., Ismail, M., Mazlan, M., Latiff, L. A., Imam, M. U., Iqbal, S., Azmi, N. H., Ghafar, S. A. A., & Chan, K. W. (2013) · Cellular and Molecular Neurobiology · doi:10.1007/s10571-013-9982-z · Cited by 60
Genetic testing in dementia — utility and clinical strategies
Koriath, C., Kenny, J., Ryan, N. S., Rohrer, J. D., Schott, J. M., Houlden, H., Fox, N. C., Tabrizi, S. J., & Mead, S. (2020) · Nature Reviews Neurology · doi:10.1038/s41582-020-00416-1 · Cited by 61
Genetics of Early-Onset Alzheimer Dementia
Rademakers, R., Cruts, M., & Broeckhoven, C. V. (2003) · The Scientific World JOURNAL · doi:10.1100/tsw.2003.39 · Cited by 58
Quantitative Amyloid Imaging in Autosomal Dominant Alzheimer’s Disease: Results from the DIAN Study Group
Su, Y., Blazey, T. M., Owen, C. J., Christensen, J. J., Friedrichsen, K., Joseph-Mathurin, N., Wang, Q., Hornbeck, R. C., Ances, B. M., Snyder, A. Z., et al. (2016) · PLOS ONE · doi:10.1371/journal.pone.0152082 · Cited by 56
Tau is central in the genetic Alzheimer–frontotemporal dementia spectrum
Dermaut, B., Kumar‐Singh, S., Rademakers, R., Theuns, J., Cruts, M., & Broeckhoven, C. V. (2005) · Trends in Genetics · doi:10.1016/j.tig.2005.09.005 · Cited by 56
Spinal Cord Neurofibrillary Pathology in Alzheimer Disease and Guam Parkinsonism-Dementia Complex
Schmidt, M. L., Zhukareva, V. A., Perl, D. P., Sheridan, S. K., Schuck, T., Lee, V. M. ‐., & Trojanowski, J. Q. (2001) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/60.11.1075 · Cited by 55
Clinical considerations in early-onset cerebral amyloid angiopathy
Banerjee, G., Collinge, J., Fox, N. C., Lashley, T., Mead, S., Schott, J. M., Werring, D. J., & Ryan, N. S. (2023) · Brain · doi:10.1093/brain/awad193 · Cited by 54
A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies
Houlden, H., Crook, R., Dolan, R. J., McLaughlin, J., Révész, T., & Hardy, J. (2001) · Neuroscience Letters · doi:10.1016/s0304-3940(01)02254-6 · Cited by 54
Interference with splicing of Presenilin transcripts has potent dominant negative effects on Presenilin activity
Nornes, S., Newman, M., Verdile, G., Wells, S., Stoick-Cooper, C. L., Tucker, B., Frederich-Sleptsova, I., Martins, R. N., & Lardelli, M. T. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm317 · Cited by 51
Quantitative analysis of neurofibrillary pathology in a general population to reappraise neuropathological criteria for senile dementia of the neurofibrillary tangle type (tangle‐only dementia): The Hisayama study
Noda, K., Sasaki, K., Fujimi, K., Wakisaka, Y., Tanizaki, Y., Wakugawa, Y., Kiyohara, Y., Iida, M., Aizawa, H., & Iwaki, T. (2006) · Neuropathology · doi:10.1111/j.1440-1789.2006.00722.x · Cited by 49
Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease
Heckmann, J. M. (2003) · Brain · doi:10.1093/brain/awh009 · Cited by 51
SP protects cerebellar granule cells against β-amyloid-induced apoptosis by down-regulation and reduced activity of Kv4 potassium channels
Pieri, M., Amadoro, G., Carunchio, I., Ciotti, M. T., Quaresima, S., Florenzano, F., Calissano, P., Possenti, R., Zona, C., & Severini, C. (2009) · Neuropharmacology · doi:10.1016/j.neuropharm.2009.06.029 · Cited by 47
Mutation profile of APP, PSEN1, and PSEN2 in Chinese familial Alzheimer's disease
Gao, Y., Ren, R., Zhong, Z., Dammer, E. B., Zhao, Q., Shan, S., Zhou, Z., Li, X., Zhang, Y., Cui, H., et al. (2019) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2019.01.018 · Cited by 45
Clinical, pathophysiological and genetic features of motor symptoms in autosomal dominant Alzheimer’s disease
Vöglein, J., Paumier, K. L., Jucker, M., Preische, O., McDade, E., Hassenstab, J. J., Benzinger, T. L. S., Noble, J. M., Berman, S., Graff‐Radford, N. R., et al. (2019) · Brain · doi:10.1093/brain/awz050 · Cited by 46
Genetic architecture of common non-Alzheimer’s disease dementias
Guerreiro, R. J., Gibbons, E., Tábuas‐Pereira, M., Kun‐Rodrigues, C., Cordeiro, G., & Brás, J. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104946 · Cited by 48
Neuropathological and Clinical Phenotype of an Italian Alzheimer Family with M239V Mutation of Presenilin 2 Gene
Marcon, G., Giaccone, G., Cupidi, C., Balestrieri, M., Beltrami, C. A., Finato, N., Bergonzi, P., Sorbi, S., Bugiani, O., & Tagliavini, F. (2004) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/63.3.199 · Cited by 46
NACP/α-Synuclein, NAC, and β-amyloid pathology of familial Alzheimer's disease with the E184D presenilin-1 mutation: a clinicopathological study of two autopsy cases
Yokota, O., Terada, S., Ishizu, H., Ujike, H., Ishihara, T., Nakashima, H., Yasuda, M., Kitamura, Y., Uéda, K., Checler, F., et al. (2002) · Acta Neuropathologica · doi:10.1007/s00401-002-0596-7 · Cited by 42
Early Onset Familial Alzheimer Disease With Spastic Paraparesis, Dysarthria, and Seizures and N135S Mutation in PSEN1
Rudzinski, L. A., Fletcher, R. M., Dickson, D. W., Crook, R., Hutton, M. L., Adamson, J. L., & Graff‐Radford, N. R. (2008) · Alzheimer Disease & Associated Disorders · doi:10.1097/wad.0b013e3181732399 · Cited by 41
The Clinical and Neuropathological Features of Sporadic (Late-Onset) and Genetic Forms of Alzheimer’s Disease
Rujeedawa, T., Félez, E. C., Clare, I. C. H., Fortea, J., Strydom, A., Rebillat, A., Coppus, A. M. W., Levin, J., & Zaman, S. H. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10194582 · Cited by 43
Regional association of pCASL-MRI with FDG-PET and PiB-PET in people at risk for autosomal dominant Alzheimer's disease
Yan, L., Liu, C. Y., Wong, K. P., Huang, S., Mack, W. J., Jann, K., Coppola, G., Ringman, J. M., & Wang, D. J. J. (2017) · NeuroImage Clinical · doi:10.1016/j.nicl.2017.12.003 · Cited by 39
Hereditary and Sporadic Forms of Aβ-Cerebrovascular Amyloidosis and Relevant Transgenic Mouse Models
Kumar‐Singh, S. (2009) · International Journal of Molecular Sciences · doi:10.3390/ijms10041872 · Cited by 40
Tau load is associated with apolipoprotein E genotype and the amount of amyloid β protein, Aβ40, in sporadic and familial Alzheimer's disease
Thaker, U., McDonagh, A. M., Iwatsubo, T., Lendon, C. L., Pickering-Brown, S. M., & Mann, D. M. A. (2003) · Neuropathology and Applied Neurobiology · doi:10.1046/j.1365-2990.2003.00425.x · Cited by 39
Self-citation
Quantitative Amyloid Imaging Using Image-Derived Arterial Input Function
Su, Y., Blazey, T., Snyder, A. Z., Raichle, M. E., Hornbeck, R. C., Aldea, P., Morris, J. C., & Benzinger, T. L. S. (2015) · PLoS ONE · doi:10.1371/journal.pone.0122920 · Cited by 36
Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network
the Dominantly Inherited Alzheimer Network (DIAN), Karch, C. M. M., Hernández, D., Wang, J., Marsh, J. A., Hewitt, A. W., Hsu, S., Norton, J. B., Levitch, D., Donahue, T. A., et al. (2018) · Alzheimer s Research & Therapy · doi:10.1186/s13195-018-0400-0 · Cited by 39
Aβ species, including IsoAsp23 Aβ, in Iowa-type familial cerebral amyloid angiopathy
Shin, Y., Cho, H. J., Fukumoto, H., Shimizu, T., Shirasawa, T., Greenberg, S. M., & Rebeck, W. G. (2003) · Acta Neuropathologica · doi:10.1007/s00401-002-0639-0 · Cited by 37
The Impact of a Novel Apolipoprotein E and Amyloid-β Protein Precursor-Interacting Protein on the Production of Amyloid-β
Hopkins, P. C. R., Sáinz‐Fuertes, R., & Lovestone, S. (2011) · Journal of Alzheimer s Disease · doi:10.3233/jad-2011-102115 · Cited by 35
White matter hyperintensities are a prominent feature of autosomal dominant Alzheimer’s disease that emerge prior to dementia
Schoemaker, D., Zotin, M. C. Z., Chen, K., Igwe, K. C., Vila‐Castelar, C., Martinez, J. E., Baena, A. Y., Fox‐Fuller, J. T., Lopera, F. J., Reiman, E. M., et al. (2022) · Alzheimer s Research & Therapy · doi:10.1186/s13195-022-01030-7 · Cited by 32
Positional effects of presenilin-1 mutations on tau phosphorylation in cortical plaques
Shepherd, C. E., Gregory, G. C., Vickers, J. C., Brooks, W. S., Kwok, J. B., Schofield, P. R., Kril, J. J., & Halliday, G. M. (2003) · Neurobiology of Disease · doi:10.1016/j.nbd.2003.10.008 · Cited by 36
Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation
Anheim, M., Hannequin, D., Boulay, C., Martin, C., Campion, D., & Tranchant, C. (2007) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.2007.123026 · Cited by 36
The Whole Exome Sequencing Clarifies the Genotype- Phenotype Correlations in Patients with Early-Onset Dementia
Xu, Y., Liu, X., Shen, J., Tian, W., Fang, R., Li, B., Ma, J., Cao, L. H., Chen, S., Li, G., et al. (2018) · Aging and Disease · doi:10.14336/ad.2018.0208 · Cited by 33
Protein markers for Alzheimer disease in the frontal cortex and cerebellum
Verdile, G., Gnjec, A., Miklossy, J., Fonte, J., Veurink, G., Bates, K. A., Kakulas, B. A., Mehta, P. D., Milward, E. A., Tan, N., et al. (2004) · Neurology · doi:10.1212/01.wnl.0000141848.45315.a6 · Cited by 32
Spontaneous ARIA (Amyloid-Related Imaging Abnormalities) and Cerebral Amyloid Angiopathy Related Inflammation in Presenilin 1-Associated Familial Alzheimer's Disease
Ryan, N. S., Lashley, T., Révész, T., Dantu, K., Fox, N. C., & Morris, H. R. (2015) · Journal of Alzheimer s Disease · doi:10.3233/jad-142325 · Cited by 32
Drebrin in Alzheimer’s Disease
Ishizuka, Y., & Hanamura, K. (2017) · Advances in experimental medicine and biology · doi:10.1007/978-4-431-56550-5_12 · Cited by 32
Cytoskeletal alterations differentiate presenilin-1 and sporadic Alzheimer’s disease
Woodhouse, A., Shepherd, C. E., Sokolova, A., Carroll, V. L., King, A. E., Halliday, G. M., Dickson, T. C., & Vickers, J. C. (2008) · Acta Neuropathologica · doi:10.1007/s00401-008-0458-z · Cited by 30
Variability and heterogeneity in Alzheimer's disease with cotton wool plaques: a clinicopathological study of four autopsy cases
Yokota, O., Terada, S., Ishizu, H., Ujike, H., Ishihara, T., Namba, M., Hayashi, Y., Nishinaka, T., Namba, R., Nakashima, H., et al. (2003) · Acta Neuropathologica · doi:10.1007/s00401-003-0737-7 · Cited by 30
Disease duration in autosomal dominant familial Alzheimer disease
Pavisic, I. M., Nicholas, J. M., O’Connor, A., Rice, H., Lu, K., Fox, N. C., & Ryan, N. S. (2020) · Neurology Genetics · doi:10.1212/nxg.0000000000000507 · Cited by 29
11C-PiB PET can underestimate brain amyloid-β burden when cotton wool plaques are numerous
Abrahamson, E. E., Kofler, J., Becker, C. R., Price, J. C., Newell, K. L., Ghetti, B. F., Murrell, J. R., McLean, C., López, O. L., Mathis, C. A., et al. (2021) · Brain · doi:10.1093/brain/awab434 · Cited by 28

Authors: Mann, D. M. A., Pickering-Brown, S. M., Takeuchi, A., & Iwatsubo, T.
Affiliations: University of Manchester (GB)
The University of Tokyo (JP)
Corresponding author: Mann, David M.A.
ORCID: Mann, David M.A.
Pickering-Brown, Stuart M.
Iwatsubo, Takeshi
Venue: The American Journal of Pathology
Publisher: Elsevier BV
Published: 2001-06
Volume: 158
Issue: 6
Pages: 2165-2175
ISSN: 0002-9440 (ISSN-L)
DOI: 10.1016/s0002-9440(10)64688-3
PMC: PMC1891993
OpenAlex: W1965252410
Cited by: 182
References: 66
Citations by year: 2025: 2 · 2024: 13 · 2023: 7 · 2022: 11 · 2021: 10 · 2020: 5 · 2019: 6 · 2018: 7 · 2017: 4 · 2016: 7 · 2015: 12 · 2014: 2 · 2013: 8 · 2012: 6
FWCI: 5.79
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: American Journal Of Pathology (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Research Explorer (The University of Manchester) (submittedVersion)
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
Health Sciences › Medicine › Clinical Neurology › Intracerebral and Subarachnoid Hemorrhage Research
Keywords: amyloid angiopathy, presenilin 1, Alzheimer's disease, amyloid-beta deposition, amyloid-beta 42, Aβ40, familial Alzheimer's disease, mutation position, APOE ε4, cerebral amyloid angiopathy, diffuse plaques, frontal cortex, cerebellum, gamma-secretase, protein topology
MeSH terms: Adult, Alzheimer Disease, Animals, Apolipoproteins E, Cerebellum, Female, Frontal Lobe, Genotype, Humans, Male, Membrane Proteins, Middle Aged, Mutation, Peptide Fragments, Genetic Variation, Amyloid beta-Peptides, Cerebral Amyloid Angiopathy, COS Cells, Presenilin-1

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

Amyloid Angiopathy and Variability in Amyloid β Deposition Is Determined by Mutation Position in Presenilin-1-Linked Alzheimer’s Disease

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks