Clinical and neuropathological findings in a patient with familial Alzheimer disease showing a mutation in the PSEN1 gene

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

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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 · see citing works

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

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A Familial Alzheimer's Disease Locus on Chromosome 1

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Two Types of Sporadic Cerebral Amyloid Angiopathy

Thal, D. R., Ghebremedhin, E., Rüb, U., Yamaguchi, H., Del Tredici, K., & Braak, H. (2002) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/61.3.282 · Cited by 446 · see citing works

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 · see citing works

Microvasculature changes and cerebral amyloid angiopathy in Alzheimer’s disease and their potential impact on therapy

Weller, R. O., Boche, D., & Nicoll, J. A. R. (2009) · Acta Neuropathologica · doi:10.1007/s00401-009-0498-z · Cited by 297 · see citing works

Molecular diagnosis of autosomal dominant early onset Alzheimer’s disease: an update: Table 1

Raux, G., Guyant‐Maréchal, L., Martin, C., Bou, J., Penet, C., Brice, A., Hannequin, D., Frébourg, T., & Campion, D. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.033456 · Cited by 199 · see citing works

Quantitative neuropathological changes in presymptomatic Huntington's disease

Gómez‐Tortosa, E., MacDonald, M. E., Friend, J. C., Taylor, S. A., Weiler, L., Cupples, L. A., Srinidhi, J., Gusella, J. F., Bird, E. D., Vonsattel, J., et al. (2001) · Annals of Neurology · doi:10.1002/1531-8249(200101)49:1 · Cited by 170 · see citing works

THE GENETICS AND MOLECULAR PATHOLOGY OF ALZHEIMER'S DISEASE

Selkoe, D. J. (2000) · Neurologic Clinics · doi:10.1016/s0733-8619(05)70232-2 · Cited by 146 · see citing works

PET amyloid ligand [11C]PIB uptake shows predominantly striatal increase in variant Alzheimer's disease

Koivunen, J., Verkkoniemi, A., Aalto, S., Paetau, A. E., Ahonen, J.-P., Viitanen, M. H., Någren, K., Rokka, J., Haaparanta‐Solin, M., Kalimo, H., et al. (2008) · Brain · doi:10.1093/brain/awn107 · Cited by 117 · see citing works

A mutant PSEN1 causes dementia with lewy bodies and variant Alzheimer's disease

Ishikawa, A., Piao, Y., Miyashita, A., Kuwano, R., Onodera, O., Ohtake, H., Suzuki, M., Nishizawa, M., & Takahashi, H. (2005) · Annals of Neurology · doi:10.1002/ana.20393 · Cited by 92 · see citing works

Variant Alzheimer Disease With Spastic paraparesis: Neuropathological phenotype

Verkkoniemi, A., Kalimo, H., Paetau, A. E., Somer, M., Iwatsubo, T., Hardy, J., & Haltia, M. (2001) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/60.5.483 · Cited by 85 · see citing works

A novel mutation (G217D) in the Presenilin 1 gene (PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum

Takao, M., Ghetti, B. F., Hayakawa, I., Ikeda, E., Fukuuchi, Y., Miravalle, L., Piccardo, P., Murrell, J. R., Glazier, B. S., & Koto, A. (2002) · Acta Neuropathologica · doi:10.1007/s00401-002-0536-6 · Cited by 81 · see citing works

Alzheimer's disease with spastic paresis and cotton wool type plaques

Tabira, T., Chui, D. H., Nakayama, H., Kuroda, S., & Shibuya, M. (2002) · Journal of Neuroscience Research · doi:10.1002/jnr.10392 · Cited by 65 · see citing works

A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis

Shrimpton, A. E., Schelper, R. L., LINKE, R. P., Hardy, J., Crook, R., Dickson, D. W., Ishizawa, T., & Davis, R. L. (2007) · Neuropathology · doi:10.1111/j.1440-1789.2007.00766.x · Cited by 40 · see citing works

Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation

Ringman, J. M., Gylys, K. H., Medina, L. D., Fox, M., Kepe, V., Flores, D. L., Apostolova, L. G., Barrio, J. R., Small, G., Silverman, D. H. S., et al. (2010) · Neuroscience Letters · doi:10.1016/j.neulet.2010.10.039 · Cited by 34 · see citing works

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 · see citing works

Brain pathology in three subjects from the same pedigree with presenilin-1 (PSEN1) P264L mutation

Martikainen, P., Pikkarainen, M., Pöntynen, K., Hiltunen, M. O., Lehtovirta, M., Tuisku, S., Soininen, H. S., & Alafuzoff, I. I. (2009) · Neuropathology and Applied Neurobiology · doi:10.1111/j.1365-2990.2009.01046.x · Cited by 28 · see citing works

Relative paucity of tau accumulation in the small areas with abundant Aβ42-positive capillary amyloid angiopathy within a given cortical region in the brain of patients with Alzheimer pathology

Oshima, K., Akiyama, H., Tsuchiya, K., Kondo, H., Haga, C., Shimomura, Y., Iseki, E., Uchikado, H., Kato, M., Niizato, K., et al. (2006) · Acta Neuropathologica · doi:10.1007/s00401-006-0070-z · Cited by 22 · see citing works

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

Neurovascular dysfunction and neurodegeneration in dementia and Alzheimer's disease

Nelson, A. R., Sweeney, M. D., Sagare, A. P., & Zlokovic, B. V. (2016) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2015.12.016 · Cited by 559 · see citing works

Cerebrospinal Fluid Biomarkers of Neurovascular Dysfunction in Mild Dementia and Alzheimer'S Disease

Sweeney, M. D., Sagare, A. P., & Zlokovic, B. V. (2015) · Journal of Cerebral Blood Flow & Metabolism · doi:10.1038/jcbfm.2015.76 · Cited by 122 · see citing works

Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene

Bagaria, J., Bagyinszky, E., & An, S. S. A. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms231810970 · Cited by 117 · see citing works

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 · see citing works

Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease

Ibáñez, L., Dube, U., Davis, A. A., Fernández, M. V., Budde, J., Cooper, B., Díez-Fairén, M., Ortega‐Cubero, S., Pástor, P., Perlmutter, J. S., et al. (2018) · Frontiers in Neuroscience · doi:10.3389/fnins.2018.00230 · Cited by 26 · see citing works

Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer’s disease

Willumsen, N., Poole, T., Nicholas, J. M., Fox, N. C., Ryan, N. S., & Lashley, T. (2021) · Brain Pathology · doi:10.1111/bpa.13009 · Cited by 25 · see citing works

Peripheral Pathways to Neurovascular Unit Dysfunction, Cognitive Impairment, and Alzheimer’s Disease

Nelson, A. R. (2022) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2022.858429 · Cited by 22 · see citing works

Comparative Analysis of Cortical Microinfarcts and Microbleeds using 3.0-Tesla Postmortem Magnetic Resonance Images and Histopathology

Niwa, A., Ii, Y., Shindo, A., Matsuo, K., Ishikawa, H., Taniguchi, A., Takase, S., Maeda, M., Sakuma, H., Akatsu, H., et al. (2017) · Journal of Alzheimer s Disease · doi:10.3233/jad-161242 · Cited by 21 · see citing works

Association between variant amyloid deposits and motor deficits in FAD-associated presenilin-1 mutations: A systematic review

Zhang, S., Lei, C., Liu, P., Zhang, M., Tao, W., Liu, H., & Liu, M. (2015) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2015.07.003 · Cited by 16 · see citing works

Young adult-onset, very slowly progressive cognitive decline with spastic paraparesis in Alzheimer’s disease with cotton wool plaques due to a novel presenilin1 G417S mutation

Miki, T., Yokota, O., Haraguchi, T., Ikeuchi, T., Zhu, B., Takenoshita, S., Terada, S., & Yamada, N. (2019) · Acta Neuropathologica Communications · doi:10.1186/s40478-019-0672-z · Cited by 14 · see citing works

Modeling the Blood–Brain Barrier to Understand Drug Delivery in Alzheimer’s Disease

Wasielewska, J. M., Chaves, J., White, A. R., & Oikari, L. E. (2020) · Exon Publications eBooks · doi:10.36255/exonpublications.alzheimersdisease.2020.ch7 · Cited by 13 · see citing works

Molecular mechanisms of aging in the pathogenesis of Alzheimer’s disease

Kakkar, A., Singh, H., Singh, B. K., Chauhan, K., Chopra, S., Chopra, H., & Mishra, A. K. (2026) · Discover Neuroscience · doi:10.1186/s13064-026-00243-y · Cited by 9 · see citing works

Progressive cognitive impairment and familial spastic paraparesis due to PRESENILIN 1 mutation: anatomoclinical characterization

Altuna, M., Larumbe, R., Zelaya, M. V., Moreno, S., García-Solaesa, V., Mendióroz, M., Ramos, M. A., & Erro, M. E. (2022) · Journal of Neurology · doi:10.1007/s00415-022-11125-8 · Cited by 2 · see citing works

Etude multimodale de la maladie d'Alzheimer : forme sporadique prodromale, formes génétiques, et altération du traitement visuel

Saint‐Aubert, L. (2012) · Thèses en ligne de l'Université Toulouse III (Université Toulouse III)

Neurodegenerative Disorders: Dementia and Parkinsonism, Lumping Together or Splitting Apart?

Merello, M., & Rossi, M. (2014) · Springer eBooks · doi:10.1007/978-1-4471-6365-7_1

Brain pathology in three subjects from the same pedigree with presenilin-1 (PSEN1) P264L mutation

Martikainen, P., Pikkarainen, M., Pöntynen, K., Hiltunen, M. O., Lehtovirta, M., Tuisku, S., Soininen, H. S., & Alafuzoff, I. I. (2009) · Neuropathology and Applied Neurobiology · doi:10.1111/j.1365-2990.2009.01046.x · Cited by 28 · see citing works

Novel insights into presenilin 1 mutation associated with a distinctive dementia phenotype and cotton wool plaques

Yamagata, H. D., Akatsu, H., Fukuoka, T., Wake, A., Watanabe, I., Kimura, N., Miki, T., Kamada, K., Miyazaki, T., Yamamoto, T., et al. (2024) · Neurological Sciences · doi:10.1007/s10072-024-07537-1 · Cited by 1 · see citing works

A mutant PSEN1 causes dementia with lewy bodies and variant Alzheimer's disease

Ishikawa, A., Piao, Y., Miyashita, A., Kuwano, R., Onodera, O., Ohtake, H., Suzuki, M., Nishizawa, M., & Takahashi, H. (2005) · Annals of Neurology · doi:10.1002/ana.20393 · Cited by 92 · see citing works

A novel mutation (G217D) in the Presenilin 1 gene (PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum

Takao, M., Ghetti, B. F., Hayakawa, I., Ikeda, E., Fukuuchi, Y., Miravalle, L., Piccardo, P., Murrell, J. R., Glazier, B. S., & Koto, A. (2002) · Acta Neuropathologica · doi:10.1007/s00401-002-0536-6 · Cited by 81 · see citing works

P1‐348: Neuropathology of Familial Alzheimer's Disease Associated with a Presenilin 1 A396T Mutation Reveals The Coexistence of Aβ, TAU, and A‐Synuclein Proteinopathies

Ghetti, B. F., Murrell, J. R., Oblak, A. L., Epperson, F., & Foroud, T. (2016) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2016.06.1099