Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer’s disease
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INTRODUCTION: A minority of patients with sporadic early-onset Alzheimer's disease (AD) exhibit de novo germ line mutations in the autosomal dominant genes such as APP, PSEN1, or PSEN2. We hypothesized that negatively screened patients may harbor somatic variants in these genes. METHODS: We applied an ultrasensitive approach based on single-molecule molecular inversion probes followed by deep next generation sequencing of 11 genes to 100 brain and 355 blood samples from 445 sporadic patients with AD (>80% exhibited an early onset, <66 years). RESULTS: We identified and confirmed nine somatic variants (allele fractions: 0.2%-10.8%): two APP, five SORL1, one NCSTN, and one MARK4 variants by independent amplicon-based deep sequencing. DISCUSSION: Two of the SORL1 variant might have contributed to the disease, the two APP variants were interpreted as likely benign and the other variants remained of unknown significance. Somatic variants in the autosomal dominant AD genes may not be a common cause of sporadic AD, including early onset cases.
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Additional somatic mutations in genes known to confer risk for AD such as APP and SORL1 have been identified in the brains of both EOAD and LOAD patients.
“Additional somatic mutations in genes known to confer risk for AD such as APP and SORL1 [237] have been identified in the brains of both EOAD and LOAD patients [238, 239]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [237]
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Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594 · see citing works
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587 · see citing works
Montine, T. J., Phelps, C. H., Beach, T. G., Bigio, E. H., Cairns, N. J., Dickson, D. W., Duyckaerts, C., Frosch, M. P., Masliah, E., Mirra, S. S., et al. (2012) · Acta Neuropathologica · doi:10.1007/s00401-011-0910-3 · Cited by 2,992 · cited 1× · see citing works
“, high AD neuropathologic change according to National Institute on Aging– Alzheimer’s Association criteria [17]) and a negative family history, one positive control carrying a pathogenic PSEN1 variant, and 52 cognitively normal controls.”
A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease
Zimprich, A. A., Benet‐Pagès, A., Struhal, W., Graf, E., Eck, S. H., Offman, M. N., Haubenberger, D., Spielberger, S., Schulte, E. C., Lichtner, P., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.06.008 · Cited by 885 · see citing works
Spreading of pathology in neurodegenerative diseases: a focus on human studies
Brettschneider, J., Tredici, K. D., Lee, V. M.-Y., & Trojanowski, J. Q. (2015) · Nature Reviews Neuroscience · doi:10.1038/nrn3887 · Cited by 790 · see citing works
Aging and neurodegeneration are associated with increased mutations in single human neurons
Lodato, M. A., Rodin, R. E., Bohrson, C. L., Coulter, M. E., Barton, A. R., Kwon, M., Sherman, M. A., Vitzthum, C. M., Luquette, L. J., Yandava, C. N., et al. (2018) · Science · doi:10.1126/science.aao4426 · Cited by 635 · see citing works
Lanoiselée, H.-M., Nicolas, G., Wallon, D., Rovelet-Lecrux, A., Lacour, M., Rousseau, S., Richard, A.-C., Pasquier, F., Rollin-Sillaire, A., Martinaud, O., et al. (2017) · PLOS Medicine · doi:10.1371/journal.pmed.1002270 · Cited by 616 · see citing works
Self-citationSomatic mutation in single human neurons tracks developmental and transcriptional history
Lodato, M. A., Woodworth, M. B., Lee, S., Evrony, G. D., Mehta, B. K., Karger, A., Lee, S., Chittenden, T. W., D’Gama, A. M., Cai, X., et al. (2015) · Science · doi:10.1126/science.aab1785 · Cited by 570 · see citing works
New insights into the generation and role of de novo mutations in health and disease
Acuña‐Hidalgo, R., Veltman, J. A., & Hoischen, A. (2016) · Genome biology · doi:10.1186/s13059-016-1110-1 · Cited by 451 · see citing works
Cruts, M., van Duijn, C. M., Backhovens, H., den Broeck, M. V., Wehnert, A., Serneels, S., Sherrington, R., Hutton, M., Hardy, J., George‐Hyslop, P. S., et al. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.1.43 · Cited by 429 · see citing works
Hiatt, J. B., Pritchard, C. C., Salipante, S. J., O’Roak, B. J., & Shendure, J. (2013) · Genome Research · doi:10.1101/gr.147686.112 · Cited by 325 · see citing works
Pottier, C., Hannequin, D., Coutant, S., Rovelet-Lecrux, A., Wallon, D., Rousseau, S., Legallic, S., Paquet, C., Bombois, S., Pariente, J., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2012.15 · Cited by 305 · see citing works
Acuna-Hidalgo, R., Sengul, H., Steehouwer, M., van de Vorst, M., Vermeulen, S. H., Kiemeney, L. A. L. M., Veltman, J. A., Gilissen, C., & Hoischen, A. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.05.013 · Cited by 264 · see citing works
Bellenguez, C., Charbonnier, C., Grenier-Boley, B., Quenez, O., Le Guennec, K., Nicolas, G., Chauhan, G., Wallon, D., Rousseau, S., Richard, A. C., et al. (2017) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2017.07.001 · Cited by 166 · see citing works
Self-citationSORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease
Nicolas, G., Charbonnier, C., Wallon, D., Quenez, O., Bellenguez, C., Grenier-Boley, B., Rousseau, S., Richard, A.-C., Rovelet-Lecrux, A., Le Guennec, K., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2015.121 · Cited by 129 · see citing works
Rovelet-Lecrux, A., Charbonnier, C., Wallon, D., Nicolas, G., Seaman, M. N. J., Pottier, C., Breusegem, S. Y., Mathur, P. P., Jenardhanan, P., Le Guennec, K., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2015.100 · Cited by 106 · see citing works
Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease
Beck, J. A. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh134 · Cited by 102 · see citing works
Nicolas, G., Wallon, D., Charbonnier, C., Quenez, O., Rousseau, S., Richard, A., Rovelet‐Lecrux, A., Coutant, S., Guennec, K. L., Bacq, D., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.173 · Cited by 91 · see citing works
Sala Frigerio, C., Lau, P., Troakes, C., Deramecourt, V., Gele, P., Van Loo, P., Voet, T., & De Strooper, B. (2015) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2015.02.007 · Cited by 71 · see citing works
Keogh, M. J., Wei, W., Wilson, I., Coxhead, J., Ryan, S., Rollinson, S. J., Griffin, H. R., Kurzawa‐Akanbi, M., Santibanez‐Koref, M., Talbot, K., et al. (2016) · Genome Research · doi:10.1101/gr.210609.116 · Cited by 52 · see citing works
From Common to Rare Variants: The Genetic Component of Alzheimer Disease
Nicolas, G., Charbonnier, C., & Campion, D. (2016) · Human Heredity · doi:10.1159/000452256 · Cited by 47 · see citing works
Somatic Signature of Brain-Specific Single Nucleotide Variations in Sporadic Alzheimer's Disease
Parcerisas, A., Rubio, S. E., Muhaisen, A., Gómez-Ramos, A., Pujadas, L., Puiggros, M., Rossi, D., Ureña, J., Burgaya, F., Pascual, M., et al. (2014) · Journal of Alzheimer’s Disease · doi:10.3233/jad-140891 · Cited by 44 · see citing works
Vitek, M. P., Rasool, C. G., de Sauvage, F. J., Vitek, S. M., Bartus, R. T., Beer, B., Ashton, R. A., Macq, A.-F., Maloteaux, J., Blume, A. J., et al. (1988) · Molecular Brain Research · doi:10.1016/0169-328x(88)90004-6 · Cited by 40 · see citing works
Somatic Mutation Analysis of theAPPandPresenilin 1and2Genes in Alzheimer's Disease Brains
Reznik‐Wolf, H., Machado, J. P. F., Haroutunian, V. H., DeMarco, L., Walter, G. F., Goldman, B., Davidson, M., Johnston, J. A., Lannfelt, L., Dani, S. U., et al. (1998) · Journal of Neurogenetics · doi:10.3109/01677069809108555 · Cited by 9 · see citing works
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Schwartzentruber, J., Cooper, S., Liu, J. Z., Barrio-Hernandez, I., Bello, E., Kumasaka, N., Young, A. M. H., Franklin, R. J. M., Johnson, T., Estrada, K., et al. (2021) · Nature Genetics · doi:10.1038/s41588-020-00776-w · Cited by 532 · see citing works
Apoptosis and its therapeutic implications in neurodegenerative diseases
Erekat, N. S. (2021) · Clinical Anatomy · doi:10.1002/ca.23792 · Cited by 163 · see citing works
Park, J. S., Lee, J., Jung, E. S., Kim, M.-H., Kim, I. B., Son, H., Kim, S., Kim, S., Park, Y. M., Mook-Jung, I., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-11000-7 · Cited by 155 · see citing works
Genetic architecture of Alzheimer's disease
Neuner, S. M., TCW, J., & Goate, A. M. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104976 · Cited by 126 · see citing works
Campion, D., Charbonnier, C., & Nicolas, G. (2019) · Acta Neuropathologica · doi:10.1007/s00401-019-01991-4 · Cited by 124 · 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
Ivashko-Pachima, Y., Hadar, A., Grigg, I., Korenková, V., Kapitansky, O., Karmon, G., Gershovits, M., Sayas, C. L., Kooy, R. F., Attems, J., et al. (2021) · Molecular Psychiatry · doi:10.1038/s41380-019-0563-5 · Cited by 107 · see citing works
Self-citationHoogmartens, J., Cacace, R., & Broeckhoven, C. V. (2021) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1002/dad2.12155 · Cited by 101 · see citing works
Genomics of Alzheimer’s disease implicates the innate and adaptive immune systems
Li, Y., Laws, S. M., Miles, L. A., Wiley, J. S., Huang, X., Masters, C. L., & Gu, B. J. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-021-03986-5 · Cited by 93 · see citing works
Brain Somatic Mutation in Aging and Alzheimer's Disease
Miller, M. B., Reed, H., & Walsh, C. A. (2021) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-121520-081242 · Cited by 56 · see citing works
Lodato, M. A., & Walsh, C. A. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz191 · Cited by 56 · see citing works
Lacour, M., Quenez, O., Rovelet‐Lecrux, A., Salomon, B., Rousseau, S., Richard, A., Quillard‐Muraine, M., Pasquier, F., Rollin‐Sillaire, A., Martinaud, O., et al. (2019) · Journal of Alzheimer s Disease · doi:10.3233/jad-190193 · Cited by 53 · see citing works
Somatic mutations in neurodegeneration: An update
Proukakis, C. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.105021 · Cited by 53 · see citing works
The role of de novo mutations in adult-onset neurodegenerative disorders
Nicolas, G., & Veltman, J. A. (2018) · Acta Neuropathologica · doi:10.1007/s00401-018-1939-3 · Cited by 51 · see citing works
Dailah, H. G. (2022) · Molecules · doi:10.3390/molecules27217207 · Cited by 50 · see citing works
The toxic metal hypothesis for neurological disorders
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Costantino, I. M., Nicodemus, J., & Chun, J. J. M. (2021) · Genes · doi:10.3390/genes12071071 · Cited by 33 · see citing works
LncRNAs as the Regulators of Brain Function and Therapeutic Targets for Alzheimer’s Disease
Liu, Y., Chen, X., Che, Y., Li, H., Zhang, Z., Peng, W., & Yang, J. (2022) · Aging and Disease · doi:10.14336/ad.2021.1119 · Cited by 35 · see citing works
Almomani, R., Marchi, M., Sopacua, M., Lindsey, P. J., Salvi, E., de Koning, B., Santoro, S., Magri, S., Smeets, H. J. M., Boneschi, F. M., et al. (2020) · PLoS ONE · doi:10.1371/journal.pone.0238467 · Cited by 32 · see citing works
Relationship between long non-coding RNAs and Alzheimer’s disease: a systematic review
Chen, L., Guo, X., Li, Z., & He, Y. (2018) · Pathology - Research and Practice · doi:10.1016/j.prp.2018.11.012 · Cited by 32 · see citing works
The role of somatic mosaicism in brain disease
Jourdon, A., Fasching, L., Scuderi, S., Abyzov, A. S., & Vaccarino, F. M. (2020) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2020.05.002 · Cited by 29 · see citing works
Whole exome sequencing analyses identified novel genes for Alzheimer's disease and related dementia
Zhang, Y.-R., Wu, B., Chen, S., Yang, L., Deng, Y., Guo, Y. X., Wu, X., Liu, W., Kang, J., Feng, J., et al. (2024) · Alzheimer s & Dementia · doi:10.1002/alz.14181 · Cited by 28 · see citing works
Helgadóttir, H., Lundin, P., Arzt, E. W., Lindström, A.-K., Graff, C., & Eriksson, M. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz085 · Cited by 23 · see citing works
Won, S., Kim, Y., & Jeong, B. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21124246 · Cited by 23 · see citing works
Panda, S. P., & Soni, U. (2022) · Ageing Research Reviews · doi:10.1016/j.arr.2022.101560 · Cited by 23 · see citing works
SomaticTARDBPvariants as a cause of semantic dementia
van Rooij, J., Mol, M. O., Melhem, S., van der Wal, P., Arp, P., Paron, F., Kaat, L. D., Seelaar, H., Bank, N. B., Miedema, S. S. M., et al. (2020) · Brain · doi:10.1093/brain/awaa317 · Cited by 24 · see citing works
Peripheral Ion Channel Gene Screening in Painful- and Painless-Diabetic Neuropathy
Ślęczkowska, M., Almomani, R., Marchi, M., de Greef, B. T. A., Sopacua, M., Hoeijmakers, J. G. J., Lindsey, P. J., Salvi, E., Bönhof, G. J., Ziegler, D., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23137190 · Cited by 20 · see citing works
Genetic and epigenetic study of an Alzheimer’s disease family with monozygotic triplets
Zhang, M., Dilliott, A. A., Khallaf, R. A., Robinson, J. F., Hegele, R. A., Comishen, M., Sato, C., Tosto, G., Reitz, C., Mayeux, R. P., et al. (2019) · Brain · doi:10.1093/brain/awz289 · Cited by 18 · see citing works
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Ibáñez, L., Cruchaga, C., & Fernández, M. V. (2021) · Genes · doi:10.3390/genes12081247 · Cited by 18 · see citing works
Alzheimer’s disease basics: we all should know
Das, S. K. (2025) · Neurological Research · doi:10.1080/01616412.2025.2529560 · Cited by 19 · see citing works
Somatic mosaicism in the diseased brain
Iourov, I. Y., Vorsanova, S. G., Куринная, О. С., Kutsev, S. I., & Yurov, Y. B. (2022) · Molecular Cytogenetics · doi:10.1186/s13039-022-00624-y · Cited by 17 · see citing works
Day, G. S., Cruchaga, C., Wingo, T. S., Schindler, S. E., Coble, D. W., & Morris, J. C. (2019) · JAMA Network Open · doi:10.1001/jamanetworkopen.2019.13491 · Cited by 17 · see citing works
Dallé, E., Mabandla, M. V., & Daniels, W. M. U. (2020) · Oxidative Medicine and Cellular Longevity · doi:10.1155/2020/5756382 · Cited by 17 · see citing works
Lobón, I., Solís-Moruno, M., Juan, D., Muhaisen, A., Abascal, F., Esteller-Cucala, P., García-Pérez, R., Martı́, M. J., TOLOSA, E. S., Ávila, J., et al. (2022) · Frontiers in Aging · doi:10.3389/fragi.2022.851039 · Cited by 16 · see citing works
New Insights into lncRNAs in Aβ Cascade Hypothesis of Alzheimer’s Disease
Hao, Y., Xie, B., Fu, X., Xu, R., & Yang, Y. F. (2022) · Biomolecules · doi:10.3390/biom12121802 · Cited by 15 · see citing works
Lei, Y., Chen, Y., Zhang, S., Wang, W. J., Zheng, M., & Zhang, R. (2024) · Heliyon · doi:10.1016/j.heliyon.2024.e26923 · Cited by 15 · see citing works
Kumar, A., Sidhu, J., Goyal, A., Tsao, J. W., & Svercauski, J. (2021) · Europe PMC (PubMed Central) · Cited by 15 · see citing works
Min, S., Li, Z.-C., Shieh, A. W., Giase, G., Bao, R., Zhang, C., Kuney, L., Kopp, R., Asif, H., Alliey-Rodriguez, N., et al. (2021) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2021.07.010 · Cited by 11 · see citing works
Reply to: APP gene copy number changes reflect exogenous contamination
Lee, M.-H., Liu, C. S., Zhu, Y., Kaeser, G. E., Rivera, R. R., Romanow, W. J., Kihara, Y., & Chun, J. J. M. (2020) · Nature · doi:10.1038/s41586-020-2523-2 · Cited by 14 · see citing works
Li, Z., Min, S., Alliey‐Rodriguez, N., Giase, G. M., Cheng, L., Craig, D. W., Faulkner, G. J., Asif, H., Liu, C., & Gershon, E. S. (2022) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2022.12.002 · Cited by 13 · see citing works
Leija-Salazar, M., Pittman, A., Mokretar, K., Morris, H., Schapira, A., & Proukakis, C. (2020) · Frontiers in Neurology · doi:10.3389/fneur.2020.570424 · Cited by 11 · see citing works
The genetic landscape of early‐onset Alzheimer's disease in China
Qin, W. D., Li, F., Liu, W., Li, Y., Cao, S., Wei, Y., Li, Y., Wang, Y., Wang, Q., & Jia, J. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.14486 · Cited by 9 · see citing works
Lecoquierre, F., Cassinari, K., Drouot, N., May, A., Fourneaux, S., Charbonnier, F., Derambure, C., Coutant, S., Saugier-Véber, P., Hoischen, A., et al. (2024) · Scientific Reports · doi:10.1038/s41598-024-53358-9 · Cited by 9 · see citing works
Won, S., Kim, Y., & Jeong, B. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms241914831 · Cited by 8 · see citing works
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Khodayi-Shahrak, M., Khalaj‐Kondori, M., Feizi, M. A. H., & Talebi, M. (2022) · EXCLI journal · doi:10.17179/excli2022-5006 · Cited by 7 · see citing works
Bioactive compounds and dietary patterns in Alzheimer's disease
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Pan, X., Coban‐Akdemir, Z., Gao, R., Jiang, X., Sheynkman, G., Wu, E., Huang, J. H., Sahni, N., & Yi, S. S. (2023) · Briefings in Bioinformatics · doi:10.1093/bib/bbad030 · Cited by 6 · see citing works
Kachhadiya, R. N., Prajapati, D., Patel, K., & Prajapati, N. K. (2022) · Journal of Drug Delivery and Therapeutics · doi:10.22270/jddt.v12i5.5625 · Cited by 5 · see citing works
Nurkolis, F., Utami, T. W., Alatas, A. I., Wicaksono, D., Kurniawan, R., Ratmandhika, S. R., Sukarno, K. T., Pahu, Y. G. P., Kim, B., Tallei, T. E., et al. (2024) · Frontiers in Aging · doi:10.3389/fragi.2024.1462569 · Cited by 5 · see citing works
Brain somatic mutations as RNA therapeutic targets in neurological disorders
Lee, S., & Lee, J. H. (2022) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.14786 · Cited by 5 · see citing works
Available Treatment Modules for Brain Disorders
Iman, T., Akram, R., Javed, M. S., Rasul, A., Sajid, F., Tehreem, A., Waris, S., & Hussain, G. (2023) · Food bioactive ingredients · doi:10.1007/978-3-031-41188-5_6 · Cited by 4 · see citing works
McDonough, G. A., Cheng, Y., Morillo, K. S., Doan, R. N., Zhou, Z., Kenny, C. J., Foutz, A., Kim, C., Cohen, M. L., Appleby, B. S., et al. (2024) · Acta Neuropathologica · doi:10.1007/s00401-024-02774-2 · Cited by 5 · see citing works
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Masoumi, S. J., Haghani, M., Mokkaram, P., Firoozi, D., Mortazavi, S. A. R., Ardekani, F. M., Ardekani, A. T., & Mortazavi, S. M. J. (2021) · Journal of Biomedical Physics and Engineering · doi:10.31661/jbpe.v0i0.2104-1318 · Cited by 2 · see citing works
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Li, V. O., Han, Y., Lam, J. C., & Downey, J. (2025) · doi:10.1101/2025.05.13.25327570 · Cited by 2 · see citing works
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Zafar, M. N. (2025) · Medical Science of Ukraine (MSU) · doi:10.32345/2664-4738.2.2025.14 · Cited by 1 · see citing works
Ślęczkowska, M. (2023) · doi:10.26481/dis.20230627mm · Cited by 1 · see citing works
Detection of somatic variants from genomic data and their role in neurodegenerative diseases
García, I. L. (2019) · LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)
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Boggula, V. R. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-821974-4.00013-3
Challenges and Potential Therapies Associated with Onset and Progression of Alzheimer’s Disease
Meena, M., Jhalora, V., & Bist, R. (2021) · Annals of Health and Health Sciences · doi:10.5958/2322-0422.2021.00005.9
A Review of Alzheimers Diseases
{"name":"Kavya K", ". K. C., {"name":"Sajja Jayanth Babu", ". K. C., {"name":"Galiveeti Karunakar", ". K. C., & {"name":"Lakshmana Rao A", ". K. C. (2023) · Future Journal of Pharmaceuticals and Health Sciences · doi:10.26452/fjphs.v3i1.335
Somatic mutations in Alzheimer-associated tetraploid neuronsPreprint
López‐Sánchez, N., Rábano, A., & Frade, J. M. (2024) · medRxiv · doi:10.1101/2024.01.13.24301214
Nanotechnology Based Therapeutic Approach in Alzheimer's
Samiullah, M., Chauhan, K., Manimekalai, K., Sherief, S. H., Pandya, M. K., Ahmed, S., Bhaskar, R., & Prakash, J. (2024) · Journal for Research in Applied Sciences and Biotechnology · doi:10.55544/jrasb.3.3.24
The biochemical pathways of Alzheimer's disease
El-Gammal, M. A., & Kodous, F. E. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-15702-8.00001-4
RNA sequence analysis of somatic mutations in aging and Parkinson’s DiseasePreprint
Sun, S., Sproviero, D., Payán‐Gómez, C., Hoeijmakers, J. H. J., Maslov, A. Y., Mastroberardino, P. G., & Vijg, J. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.03.26.645360
Somatic Genomic (Genetic) Mosaicism in the Brain
Chun, J. J. M. (2025) · Elsevier eBooks · doi:10.1016/b978-0-323-95702-1.00482-6
Khabazeh, A., Cho, E., Ekuta, V., Kumar, J., Poursahdi, N., Wong, T., Wu, P., Lian, G., Libermann, T. A., & Sheen, V. L. (2025) · Cureus · doi:10.7759/cureus.87463
Probability and Neurodegeneration: Alzheimer’s Disease and Huntington’s Disease
Panegyres, P. K. (2025) · Brain Science · doi:10.3390/brainsci15080814
A Microglia Initiated Target Therapy in Neuroinflammation for Alzheimer’s Patients
Faiza, B. K., Abedi, A., Andrea, O. B. O., Tamar, G., & Chermahini, S. H. (2024) · Journal of Alzheimers Research and Therapy · doi:10.14302/issn.2998-4211.jalr-24-4926
Nervous System Disorders and Disability
Malviya, R., & Rajput, S. (2026) · SpringerBriefs in modern perspectives on disability research. · doi:10.1007/978-981-95-9223-4_3
Somatic mutations: recent advances in brain aging and neurodegeneration
Oatman, S. R., Huang, A. Y., & Miller, M. B. (2026) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2026.102519
Somatic mosaicism in the brain: linking development, ageing and neurodegeneration
Zhou, Z., & Walsh, C. A. (2026) · Nature Reviews Neurology · doi:10.1038/s41582-026-01268-x
Specific enrichment of somatic single nucleotide variants in Alzheimer-associated tetraploid neurons
López-Sánchez, N., Rábano, A., & Frade, J. M. (2026) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2026.1929505
- Authors
- Nicolas, G., Acuña‐Hidalgo, R., Keogh, M. J., Quenez, O., Steehouwer, M., Lelieveld, S., Rousseau, S., Richard, A., Oud, M. S., Marguet, F., Laquerrière, A., Morris, C. M., Attems, J., Smith, C., Ansorge, O., Al Sarraj, S., Frebourg, T., Campion, D., Hannequin, D., Wallon, D., Gilissen, C., Chinnery, P. F., Veltman, J. A., & Hoischen, A.
- Affiliations
- Inserm (FR)
- Radboud University Medical Center (NL)
- University of Cambridge (GB)
- Institute of Neuroscience Newcastle University Newcastle Upon Tyne NE4 5PL UK
- Newcastle University (GB)
- Western General Hospital (GB)
- John Radcliffe Hospital (GB)
- Department of Basic and Clinical Neuroscience Institute of Psychiatry Psychology and Neuroscience King's College London London SE5 8AF UK
- Normandie Univ UNIROUEN Inserm U1245 and Rouen University Hospital Department of Genetics and CNR‐MAJ, F 76000 Normandy Center for Genomic and Personalized Medicine Rouen France
- Radboud University Nijmegen (NL)
- Corresponding author
- Nicolas, Gaël
- ORCID
- Venue
- Alzheimer's & Dementia
- Publisher
- Wiley
- Published
- 2018-08-13
- Volume
- 14
- Issue
- 12
- Pages
- 1632-1639
- ISSN
- 1552-5260 (ISSN-L)
- 1552-5279
- PMC
- PMC6544509
- OpenAlex
- W2885991981
- Cited by
- 81
- References
- 24
- Citations by year
- 2026: 4 · 2025: 13 · 2024: 10 · 2023: 7 · 2022: 13 · 2021: 12 · 2020: 10 · 2019: 10 · 2018: 2
- FWCI
- 5.83
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Alzheimer s & Dementia (publishedVersion, other-oa)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion, cc-by-nc-nd)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- HAL (submittedVersion, cc-by-nc-nd)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, cc-by-nc-nd)
- Apollo (University of Cambridge) (submittedVersion, cc-by-nc-nd)
- Radboud Repository (Radboud University) (submittedVersion)
- Apollo
- Funders
- Medical Research Council (G0601943)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- sporadic Alzheimer's disease, early-onset Alzheimer's disease
- MeSH terms
- Adult, Aged, Alzheimer Disease, Female, Genes, Dominant, Humans, Male, Middle Aged, Mutation, Genetic Predisposition to Disease
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