Cited by 616Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchAmyotrophic Lateral Sclerosis Research

The DOI matches its Crossref record; 44 of the 44 references it cites were found in a registry or an index.

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases

Open access

Lanoiselée, Hélène-Marie, Nicolas, Gaël, Wallon, David, Rovelet-Lecrux, Anne, Lacour, Morgane, Rousseau, Stéphane, Richard, Anne-Claire, Pasquier, Florence, Rollin-Sillaire, Adeline, Martinaud, Olivier, Quillard-Muraine, Muriel, de la Sayette, Vincent, Boutoleau-Bretonniere, Claire, Etcharry-Bouyx, Frédérique, Chauviré, Valérie, Sarazin, Marie, le Ber, Isabelle, Epelbaum, Stéphane, Jonveaux, Thérèse, Rouaud, Olivier, Ceccaldi, Mathieu, Félician, Olivier, Godefroy, Olivier, Formaglio, Maite, Croisile, Bernard, Auriacombe, Sophie, Chamard, Ludivine, Vincent, Jean-Louis, Sauvée, Mathilde, Marelli-Tosi, Cecilia, Gabelle, Audrey, Ozsancak, Canan, Pariente, Jérémie, Paquet, Claire, Hannequin, Didier, Campion, Dominique, collaborators of the CNR-MAJ project·2017·PLOS Medicine

DOI 10.1371/journal.pmed.1002270PMC PMC5370101

Open this paper in CoChat — free account Open PDF

Abstract

BACKGROUND: Amyloid protein precursor (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2) mutations cause autosomal dominant forms of early-onset Alzheimer disease (AD-EOAD). Although these genes were identified in the 1990s, variant classification remains a challenge, highlighting the need to colligate mutations from large series. METHODS AND FINDINGS: We report here a novel update (2012-2016) of the genetic screening of the large AD-EOAD series ascertained across 28 French hospitals from 1993 onwards, bringing the total number of families with identified mutations to n = 170. Families were included when at least two first-degree relatives suffered from early-onset Alzheimer disease (EOAD) with an age of onset (AOO) ≤65 y in two generations. Furthermore, we also screened 129 sporadic cases of Alzheimer disease with an AOO below age 51 (44% males, mean AOO = 45 ± 2 y). APP, PSEN1, or PSEN2 mutations were identified in 53 novel AD-EOAD families. Of the 129 sporadic cases screened, 17 carried a PSEN1 mutation and 1 carried an APP duplication (13%). Parental DNA was available for 10 sporadic mutation carriers, allowing us to show that the mutation had occurred de novo in each case. Thirteen mutations (12 in PSEN1 and 1 in PSEN2) identified either in familial or in sporadic cases were previously unreported. Of the 53 mutation carriers with available cerebrospinal fluid (CSF) biomarkers, 46 (87%) had all three CSF biomarkers-total tau protein (Tau), phospho-tau protein (P-Tau), and amyloid β (Aβ)42-in abnormal ranges. No mutation carrier had the three biomarkers in normal ranges. One limitation of this study is the absence of functional assessment of the possibly and probably pathogenic variants, which should help their classification. CONCLUSIONS: Our findings suggest that a nonnegligible fraction of PSEN1 mutations occurs de novo, which is of high importance for genetic counseling, as PSEN1 mutational screening is currently performed in familial cases only. Among the 90 distinct mutations found in the whole sample of families and isolated cases, definite pathogenicity is currently established for only 77%, emphasizing the need to pursue the effort to classify variants.

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 · 10.1371/journal.pmed.1002270

Cites

44 of 44 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.

The diagnosis of dementia due to Alzheimer's disease: Recommendations from the National Institute on Aging‐Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease
McKhann, G. M., Knopman, D. S., Chertkow, H., Hyman, B. T., Jack, C. R., Kawas, C. H., Klunk, W. E., Koroshetz, W. J., Manly, J. J., Mayeux, R., et al. (2011) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2011.03.005 · Cited by 18,657
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
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
Goate, A., Chartier-Harlin, M.-C., Mullan, M., Brown, J., Crawford, F., Fidani, L., Giuffra, L., Haynes, A., Irving, N., James, L., et al. (1991) · Nature · doi:10.1038/349704a0 · Cited by 4,659
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
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
Rogaev, E. I., Sherrington, R., Rogaeva, E. A., Levesque, G., Ikeda, M., Liang, Y., Chi, H., Lin, C., Holman, K., Tsuda, T., et al. (1995) · Nature · doi:10.1038/376775a0 · Cited by 2,052
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
Rovelet‐Lecrux, A., Hannequin, D., Raux, G., Meur, N. L., Laquerrière, A., Vital, A., Dumanchin‐Njock, C., Feuillette, S., Brice, A., Vercelletto, M., et al. (2005) · Nature Genetics · doi:10.1038/ng1718 · Cited by 1,284
Self-citation
Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene
Chartier-Harlin, M.-C., Crawford, F., Houlden, H., Warren, A., Hughes, D., Fidani, L., Goate, A., Rossor, M., Roques, P., Hardy, J., et al. (1991) · Nature · doi:10.1038/353844a0 · Cited by 1,214
Trafficking and Proteolytic Processing of APP
Haass, C., Kaether, C., Thinakaran, G., & Sisodia, S. (2012) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a006270 · Cited by 1,075
A framework for the interpretation of de novo mutation in human disease
Samocha, K. E., Robinson, E. B., Sanders, S. J., Stevens, C., Sabo, A., McGrath, L. M., Kosmicki, J. A., Rehnström, K., Mallick, S., Kirby, A., et al. (2014) · Nature Genetics · doi:10.1038/ng.3050 · Cited by 979
A Familial Alzheimer's Disease Locus on Chromosome 1
Levy‐Lahad, E., Wijsman, E. M., Nemens, E. J., Anderson, L., Goddard, K. A. B., Weber, J. L., Bird, T. D., & Schellenberg, G. D. (1995) · Science · doi:10.1126/science.7638621 · Cited by 832

Flagged first, then by citations

Show all 44 references

Sorted by citations

Items 101–200 of 614

Mutation screening in Chinese patients with familial Alzheimer's disease by whole-exome sequencing
Jiang, B., Zhou, J., Li, H., Chen, Y., Cheng, H.-R., Ye, L., Liu, D., Chen, D.-F., Tao, Q., & Wu, Z. (2018) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2018.11.024 · Cited by 47
Genetically modified large animal models for investigating neurodegenerative diseases
Yang, W., Chen, X., Li, S., & Li, X.-J. (2021) · Cell & Bioscience · doi:10.1186/s13578-021-00729-8 · Cited by 45
Engineered Exosomes Containing microRNA-29b-2 and Targeting the Somatostatin Receptor Reduce Presenilin 1 Expression and Decrease the β-Amyloid Accumulation in the Brains of Mice with Alzheimer’s Disease
Lin, E.-Y., Hsu, S.-X., Wu, B., Deng, Y., Wuli, W., Li, Y. S., Lee, J.-H., Lin, S., Harn, H., & Chiou, T. (2024) · International Journal of Nanomedicine · doi:10.2147/ijn.s442876 · Cited by 48
Exosomes as Biomarkers and Therapeutic Agents in Neurodegenerative Diseases: Current Insights and Future Directions
Dehghani, S., Ocakcı, O., Hatipoglu, P. T., Özalp, V. C., & Tevlek, A. (2025) · Molecular Neurobiology · doi:10.1007/s12035-025-04825-5 · Cited by 49
Recent advances and challenges of rare variant association analysis in the biobank sequencing era
Chen, W., Coombes, B. J., & Larson, N. B. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.1014947 · Cited by 42
Sorting Out the Role of the Sortilin-Related Receptor 1 in Alzheimer’s Disease
Barthelson, K., Newman, M., & Lardelli, M. T. (2020) · Journal of Alzheimer s Disease Reports · doi:10.3233/adr-200177 · Cited by 43
Gut microbiota mediated allostasis prevents stress-induced neuroinflammatory risk factors of Alzheimer's disease
Westfall, S., Iqbal, U. H., Sebastian-Valverde, M., & Pasinetti, G. M. (2019) · Progress in molecular biology and translational science · doi:10.1016/bs.pmbts.2019.06.013 · Cited by 42
The role of TREM2 in Alzheimer's disease; evidence from transgenic mouse models
Karanfilian, L., Tosto, M. G., & Malki, K. (2019) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2019.09.004 · Cited by 40
Definitive roles of TOMM40-APOE-APOC1 variants in the Alzheimer's risk
Kulminski, A. M., Philipp, I., Shu, L., & Culminskaya, I. V. (2021) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2021.09.009 · Cited by 40
Bacterial pneumonia and subsequent dementia risk: A nationwide cohort study
Chu, C., Liang, C., Tsai, S., Bai, Y., Su, T., Chen, T., & Chen, M. (2022) · Brain Behavior and Immunity · doi:10.1016/j.bbi.2022.04.002 · Cited by 41
Exercise as Potential Therapeutic Target to Modulate Alzheimer’s Disease Pathology in APOE ε4 Carriers: A Systematic Review
Tokgöz, S., & Claassen, J. A. H. R. (2021) · Cardiology and Therapy · doi:10.1007/s40119-020-00209-z · Cited by 42
Presenilin mutations and their impact on neuronal differentiation in Alzheimer’s disease
Canales-Aguirre, A. A., Hernández-Sapiéns, M. A., Reza-Zaldívar, E. E., Márquez-Aguirre, A. L., Gómez‐Pinedo, U., Matías‐Guiu, J., Cevallos, R. R., Mateos‐Díaz, J. C., & Sánchez-González, V. (2021) · Neural Regeneration Research · doi:10.4103/1673-5374.313016 · Cited by 41
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
Grangeon, L., Cassinari, K., Rousseau, S., Croisile, B., Formaglio, M., Moreaud, O., Boutonnât, J., Meur, N. L., Miné, M., Coste, T., et al. (2021) · Neurology Genetics · doi:10.1212/nxg.0000000000000609 · Cited by 38
Self-citation
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects
Acosta‐Uribe, J., Aguillon, D. F., Cochran, J. N., Giraldo, M., Madrigal, L., Killingsworth, B. W., Singhal, R., Labib, S., Alzate, D., Velilla, L. M., et al. (2022) · Genome Medicine · doi:10.1186/s13073-022-01035-9 · Cited by 43
Microbial signatures and therapeutic strategies in neurodegenerative diseases
Rob, M., Yousef, M., Lakshmanan, A. P., Mahboob, A., Terranegra, A., & Châari, A. (2025) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2025.117905 · Cited by 43
Nutraceuticals-based therapeutic approach: recent advances to combat pathogenesis of Alzheimer’s disease
Talebi, M., Kakouri, E., Talebi, M., Tarantilis, P. Α., Farkhondeh, T., İlgün, S., Pourbagher‐Shahri, A. M., & Samarghandian, S. (2021) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2021.1923479 · Cited by 41
Synapses, Microglia, and Lipids in Alzheimer’s Disease
Paasila, P. J., Aramideh, J. A., Sutherland, G. T., & Graeber, M. B. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2021.778822 · Cited by 40
Apolipoprotein E isoform-dependent effects on the processing of Alzheimer's amyloid-β
Chai, A. B., Lam, H. H. J., Kockx, M., & Gelissen, I. C. (2021) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2021.158980 · Cited by 41
Insertion of the Icelandic Mutation (A673T) by Prime Editing: A Potential Preventive Treatment for Familial and Sporadic Alzheimer's Disease
Tremblay, G., Rousseau, J., Mbakam, C. H., & Tremblay, J. P. (2022) · The CRISPR Journal · doi:10.1089/crispr.2021.0085 · Cited by 37
Implications of Microorganisms in Alzheimer’s Disease
Yadav, P., Lee, Y., Panday, H., Kant, S., Bajwa, N., Parashar, R., Jha, S. K., Jha, N. K., Nand, P., Lee, S., et al. (2022) · Current Issues in Molecular Biology · doi:10.3390/cimb44100314 · Cited by 37
APOE and immunity: Research highlights
Kloske, C. M., Barnum, C. J., Batista, A. F., Bradshaw, E. M., Brickman, A. M., Bu, G., Dennison, J. L., Gearon, M. D., Goate, A., Haass, C., et al. (2023) · Alzheimer s & Dementia · doi:10.1002/alz.13020 · Cited by 38
Glutamate Receptor Dysregulation and Platelet Glutamate Dynamics in Alzheimer’s and Parkinson’s Diseases: Insights into Current Medications
Gautam, D., Naik, U. P., Naik, M. U., Yadav, S. K., Chaurasia, R. N., & Dash, D. (2023) · Biomolecules · doi:10.3390/biom13111609 · Cited by 38
Use of ocular biomarkers as a potential tool for early diagnosis of Alzheimer's disease
Singh, A., & Verma, S. (2020) · Indian Journal of Ophthalmology · doi:10.4103/ijo.ijo_999_19 · Cited by 36
Degradation of Bone Quality in a Transgenic Mouse Model of Alzheimer′s Disease
LLabre, J. E., Gil, C., Amatya, N., Lagalwar, S., Possidente, B. P., & Vashishth, D. (2020) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.4723 · Cited by 36
Iron and Targeted Iron Therapy in Alzheimer’s Disease
Wang, J., Fu, J., Zhao, Y., Liu, Q., Yan, X., & Su, J. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms242216353 · Cited by 35
γ-Secretase activity, clinical features, and biomarkers of autosomal dominant Alzheimer's disease: cross-sectional and longitudinal analysis of the Dominantly Inherited Alzheimer Network observational study (DIAN-OBS)
Schultz, S. A., Liu, L., Schultz, A. P., Fitzpatrick, C. D., Levin, R., Bellier, J., Shirzadi, Z., Joseph‐Mathurin, N., Chen, C. D., Benzinger, T. L. S., et al. (2024) · The Lancet Neurology · doi:10.1016/s1474-4422(24)00236-9 · Cited by 35
Associations of Environmental Exposure to Arsenic, Manganese, Lead, and Cadmium with Alzheimer’s Disease: A Review of Recent Evidence from Mechanistic Studies
Ahmed, G., Rahaman, M. S., Perez, E., & Khan, K. M. (2025) · Journal of Xenobiotics · doi:10.3390/jox15020047 · Cited by 37
Genetics of Chronic Traumatic Encephalopathy
Abdolmohammadi, B., Dupre, A., Evers, L., & Mez, J. (2020) · Seminars in Neurology · doi:10.1055/s-0040-1713631 · Cited by 35
Recognizing novel drugs against Keap1 in Alzheimer’s disease using machine learning grounded computational studies
Mukerjee, N., Al-Khafaji, K., Maitra, S., Wadi, J. S., Sachdeva, P., Ghosh, A., Buchade, R. S., Chaudhari, S. Y., Jadhav, S. B., Das, P., et al. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.1036552 · Cited by 34
CLINICAL EXOME SEQUENCING IN DEMENTIAS: A PRELIMINARY STUDY
Zalar, B., Maver, A., Kovanda, A., Peterlin, A., & Peterlin, B. (2018) · Psychiatria Danubina · doi:10.24869/psyd.2018.216 · Cited by 34
New Insights into the Molecular Bases of Familial Alzheimer’s Disease
D’Argenio, V., & Sarnataro, D. (2020) · Journal of Personalized Medicine · doi:10.3390/jpm10020026 · Cited by 35
Store-Operated Calcium Channels in Physiological and Pathological States of the Nervous System
Zhang, I., & Hu, H. (2020) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2020.600758 · Cited by 34
Significance of mitochondrial activity in neurogenesis and neurodegenerative diseases
Sun, N., Ozgen, S., Krigman, J., & Zhang, R. (2021) · Neural Regeneration Research · doi:10.4103/1673-5374.322429 · Cited by 38
Reducing PDK1/Akt Activity: An Effective Therapeutic Target in the Treatment of Alzheimer’s Disease
Yang, S., Du, Y., Zhao, X., Wu, C., & Yu, P. (2022) · Cells · doi:10.3390/cells11111735 · Cited by 38
iPSCs: A Preclinical Drug Research Tool for Neurological Disorders
Bonaventura, G., Iemmolo, R., Attaguile, G. A., Cognata, V. L., Pistone, B. S., Raudino, G., D’Agata, V., Cantarella, G., Barcellona, M. L., & Cavallaro, S. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22094596 · Cited by 35
γ-secretase promotes Drosophila postsynaptic development through the cleavage of a Wnt receptor
Restrepo, L. J., DePew, A. T., Moese, E. R., Tymanskyj, S. R., Parisi, M. J., Aimino, M. A., Duhart, J. C., Fei, H., & Mosca, T. J. (2022) · Developmental Cell · doi:10.1016/j.devcel.2022.05.006 · Cited by 29
Hypergraph factorization for multi-tissue gene expression imputation
Viñas, R., Joshi, C. K., Georgiev, D., Lin, P., Dumitrascu, B., Gamazon, E. R., & Lió, P. (2023) · Nature Machine Intelligence · doi:10.1038/s42256-023-00684-8 · Cited by 36
Zebrafish as a Model Organism for Studying Pathologic Mechanisms of Neurodegenerative Diseases and other Neural Disorders
Liu, Y. (2023) · Cellular and Molecular Neurobiology · doi:10.1007/s10571-023-01340-w · Cited by 32
Association Between Type 2 Diabetes Mellitus and Alzheimer's Disease: Common Molecular Mechanism and Therapeutic Targets
Chauhan, A., Dubey, S., & Jain, S. (2024) · Cell Biochemistry and Function · doi:10.1002/cbf.4111 · Cited by 35
Nanoarchitectured Bioconjugates and Bioreceptors Mediated Surface Plasmon Resonance Biosensor for In Vitro Diagnosis of Alzheimer’s Disease: Development and Future Prospects
Nangare, S., & Patil, P. O. (2021) · Critical Reviews in Analytical Chemistry · doi:10.1080/10408347.2020.1864716 · Cited by 32
Zebrafish: A Model Deciphering the Impact of Flavonoids on Neurodegenerative Disorders
Mhalhel, K., Sicari, M., Pansera, L., Chen, J., Levanti, M. B., Diotel, N., Rastegar, S., Germanà, A., & Montalbano, G. (2023) · Cells · doi:10.3390/cells12020252 · Cited by 44
Crocin attenuates the granular cells damages on the dentate gyrus and pyramidal neurons in the CA3 regions of the hippocampus and frontal cortex in the rat model of Alzheimer's disease
Hadipour, M., Meftahi, G. H., Afarinesh, M. R., Jahromi, G. P., & Hatef, B. (2020) · Journal of Chemical Neuroanatomy · doi:10.1016/j.jchemneu.2020.101837 · Cited by 31
Non-Coding RNAs as Sensors of Oxidative Stress in Neurodegenerative Diseases
Gámez‐Valero, A., Guisado-Corcoll, A., Herrero‐Lorenzo, M., Solaguren‐Beascoa, M., & Martí, E. (2020) · Antioxidants · doi:10.3390/antiox9111095 · Cited by 34
Olfactory Dysfunction and Alzheimer’s Disease: A Review
McLaren, A., & Kawaja, M. D. (2024) · Journal of Alzheimer s Disease · doi:10.3233/jad-231377 · Cited by 35
Genetic screening in early-onset dementia patients with unclear phenotype: relevance for clinical diagnosis
Perrone, F., Cacace, R., Mossevelde, S. V., den Bossche, T. V., Deyn, P. P. D., Cras, P. P., Engelborghs, S., van der Zee, J., & Broeckhoven, C. V. (2018) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2018.04.015 · Cited by 30
Differential effects of risk factors on the cognitive trajectory of early- and late-onset Alzheimer’s disease
Kim, J., Woo, S., Kim, S., Jang, H., Kim, J. P., Kim, J., Kang, S. H., Na, D. L., Chin, J., Apostolova, L. G., et al. (2021) · Alzheimer s Research & Therapy · doi:10.1186/s13195-021-00857-w · Cited by 30
Citrullination of Amyloid-β Peptides in Alzheimer’s Disease
Mukherjee, S., Perez, K. A., Dubois, C., Nisbet, R. M., Li, Q., Varghese, S., Jin, L., Birchall, I. E., Streltsov, V. A., Vella, L. J., et al. (2021) · ACS Chemical Neuroscience · doi:10.1021/acschemneuro.1c00474 · Cited by 30
Role of TET1-mediated epigenetic modulation in Alzheimer's disease
Armstrong, M. J., Jin, Y., Vattathil, S., Huang, Y., Schroeder, J. P., Bennet, D. A., Qin, Z. S., Wingo, T. S., & Jin, P. (2023) · Neurobiology of Disease · doi:10.1016/j.nbd.2023.106257 · Cited by 32
Aberrant splicing of PSEN2 , but not PSEN1 , in individuals with sporadic Alzheimer’s disease
Course, M. M., Gudsnuk, K. M., Keene, C. D., Bird, T. D., Jayadev, S., & Valdmanis, P. N. (2022) · Brain · doi:10.1093/brain/awac294 · Cited by 33
Amyloid-induced neurodegeneration: A comprehensive review through aggregomics perception of proteins in health and pathology
Bashir, S., Aiman, A., Shahid, M., Chaudhary, A. A., Sami, N., Basir, S. F., Hassan, M. I., & Islam, A. (2024) · Ageing Research Reviews · doi:10.1016/j.arr.2024.102276 · Cited by 31
Genomic and Transcriptomic Approaches Advance the Diagnosis and Prognosis of Neurodegenerative Diseases
Liu, Z., & Song, S. (2025) · Genes · doi:10.3390/genes16020135 · Cited by 35
Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer’s Disease Patient
Guennec, K. L., Tubeuf, H., Hannequin, D., Wallon, D., Quenez, O., Rousseau, S., Richard, A., Deleuze, J., Boland, A., Frébourg, T., et al. (2018) · Journal of Alzheimer s Disease · doi:10.3233/jad-170981 · Cited by 29
Self-citation
The role of UNC5C in Alzheimer’s disease
Li, Q., Wang, B.-L., Sun, F.-R., Li, J., Cao, X., & Tan, L. (2018) · Annals of Translational Medicine · doi:10.21037/atm.2018.04.43 · Cited by 29
Gut dysbiosis as a potential driver of Parkinson’s and Alzheimer’s disease pathogenesis
Pfaffinger, J. M., Hays, K. E., Seeley, J., Babu, P. R., & Ryznar, R. J. (2025) · Frontiers in Neuroscience · doi:10.3389/fnins.2025.1600148 · Cited by 39
Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges
Shademan, B., Avci, Ç. B., Nikanfar, M., & Nourazarian, A. (2020) · NeuroMolecular Medicine · doi:10.1007/s12017-020-08601-7 · Cited by 30
Molecular docking analysis of stachydrine and sakuranetin with IL-6 and TNF-α in the context of inflammation
Prathap, L. (2021) · Bioinformation · doi:10.6026/97320630017348 · Cited by 28
Advances in Genetics and Epigenetic Alterations in Alzheimer’s Disease: A Notion for Therapeutic Treatment
Rabaneda‐Bueno, R., Mena‐Montes, B., Torres‐Castro, S., Torres‐Carrillo, N., & Torres-Carrillo, N. M. (2021) · Genes · doi:10.3390/genes12121959 · Cited by 30
A how-to guide for a precision medicine approach to the diagnosis and treatment of Alzheimer's disease
Devi, G. (2023) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2023.1213968 · Cited by 29
Genetics of Alzheimer’s disease
König, T., & Stögmann, E. (2021) · Wiener Medizinische Wochenschrift · doi:10.1007/s10354-021-00819-9 · Cited by 31
Fats, Friends or Foes: Investigating the Role of Short- and Medium-Chain Fatty Acids in Alzheimer’s Disease
Ameen, A. O., Freude, K., & Aldana, B. I. (2022) · Biomedicines · doi:10.3390/biomedicines10112778 · Cited by 29
Methylation differences in Alzheimer’s disease neuropathologic change in the aged human brain
Lang, A.-L., Eulalio, T. Y., Fox, E., Yakabi, K., Bukhari, S. A., Kawas, C. H., Corrada, M. M., Montgomery, S. B., Heppner, F. L., Capper, D., et al. (2022) · Acta Neuropathologica Communications · doi:10.1186/s40478-022-01470-0 · Cited by 26
Diagnostic Approach of Early-Onset Dementia with Negative Family History: Implications from Two Cases of Early-Onset Alzheimer’s Disease with De Novo PSEN1 Mutation
Liu, J., Wang, Q., Jing, D., Gao, R., Zhang, J., Cui, C., Qiao, H., Liang, Z., Wang, C., Rosa‐Neto, P., et al. (2019) · Journal of Alzheimer s Disease · doi:10.3233/jad-181108 · Cited by 27
Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening
Nicolas, G., Zaréa, A., Lacour, M., Quenez, O., Rousseau, S., Richard, A., Bonnevalle, A., Schramm, C., Olaso, R., Sandron, F., et al. (2024) · Genetics in Medicine · doi:10.1016/j.gim.2024.101082 · Cited by 26
Self-citation
Advances in Therapeutics to Alleviate Cognitive Decline and Neuropsychiatric Symptoms of Alzheimer’s Disease
Li, J., Ebrahimi, A., & Ali, A. B. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25105169 · Cited by 27
Exploring Alzheimer's disease treatment: Established therapies and novel strategies for future care
Soni, U., Singh, K., Jain, D., & Pujari, R. (2025) · European Journal of Pharmacology · doi:10.1016/j.ejphar.2025.177520 · Cited by 28
Advances in Alzheimer's therapy: Exploring neuropathological mechanisms to revolutionize the future therapeutic landscape
Sugandhi, V. V., Gadhave, D. G., Ugale, A. R., Kulkarni, N. N., Nangare, S., Patil, H. P., Rath, S., Saxena, R., Lavate, A., Patel, A. T., et al. (2025) · Ageing Research Reviews · doi:10.1016/j.arr.2025.102775 · Cited by 32
A Brief Synopsis on the Genetics of Alzheimer’s Disease
Kamboh, M. I. (2018) · Current Genetic Medicine Reports · doi:10.1007/s40142-018-0155-8 · Cited by 26
GSKIP-Mediated Anchoring Increases Phosphorylation of Tau by PKA but Not by GSK3beta via cAMP/PKA/GSKIP/GSK3/Tau Axis Signaling in Cerebrospinal Fluid and iPS Cells in Alzheimer Disease
Ko, H.-J., Chiou, S.-J., Wong, Y., Wang, Y.-H., Lai, Y.-L., Chou, C., Wang, C., Loh, J., Lieu, A., Cheng, J., et al. (2019) · Journal of Clinical Medicine · doi:10.3390/jcm8101751 · Cited by 26
The expanding role of CDR1‐AS in the regulation and development of cancer and human diseases
Azari, H., Mousavi, P., Karimi, E., Sadri, F., Zarei, M., Rafat, M., & Shekari, M. (2020) · Journal of Cellular Physiology · doi:10.1002/jcp.29950 · Cited by 26
Autosomal dominant early onset Alzheimer's disease in the Mexican state of Jalisco: High frequency of the mutation PSEN1 c. 1292C >A and phenotypic profile of patients
Dumois‐Petersen, S., Gallegos‐Arreola, M. P., Magaña‐Torres, M. T., Perea, F. J., Ringman, J. M., & Figuera, L. E. (2020) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31865 · Cited by 26
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes
Schramm, C., Charbonnier, C., Zaréa, A., Lacour, M., Wallon, D., collaborators, C., Andriuta, D., Anthony, P., Auriacombe, S., Balageas, A., et al. (2022) · Genome Medicine · doi:10.1186/s13073-022-01070-6 · Cited by 28
Self-citation
Potential use of iPSCs for disease modeling, drug screening, and cell-based therapy for Alzheimer’s disease
Marei, H. E. S., Khan, M. U. A., & Hasan, A. (2023) · Cellular & Molecular Biology Letters · doi:10.1186/s11658-023-00504-2 · Cited by 27
Alzheimer’s Disease: Models and Molecular Mechanisms Informing Disease and Treatments
Nystuen, K., McNamee, S. M., Akula, M., Holton, K. M., DeAngelis, M. M., & Haider, N. B. (2024) · Bioengineering · doi:10.3390/bioengineering11010045 · Cited by 28
Respiratory Dysfunction in Alzheimer’s Disease—Consequence or Underlying Cause? Applying Animal Models to the Study of Respiratory Malfunctions
Wrzesień, A., Andrzejewski, K., Jampolska, M., & Kaczyńska, K. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25042327 · Cited by 25
Epigenetic biomarkers in Alzheimer's disease: Diagnostic and prognostic relevance
Behl, T., Kyada, A., Roopashree, R., Nathiya, D., Arya, R., Kumar, M., Khalid, M., Gulati, M., Sachdeva, M., Fareed, M., et al. (2024) · Ageing Research Reviews · doi:10.1016/j.arr.2024.102556 · Cited by 31
Systematic identification of latent disease-gene associations from PubMed articles
Zhang, Y., Shen, F., Rastegar-Mojarad, M., Li, D., Liu, S., Tao, C., Yu, Y., & Liu, H. (2018) · PLoS ONE · doi:10.1371/journal.pone.0191568 · Cited by 25
Computing the Pathogenicity of Alzheimer’s Disease Presenilin 1 Mutations
Tang, N., Dehury, B., & Kepp, K. P. (2019) · Journal of Chemical Information and Modeling · doi:10.1021/acs.jcim.8b00896 · Cited by 23
New molecular approaches to Alzheimer's disease
Resta, C. D., & Ferrari, M. (2019) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2019.04.010 · Cited by 26
Interfacing brain organoids with precision medicine and machine learning
Zheng, H., Feng, Y., Tang, J., & Ma, S. (2022) · Cell Reports Physical Science · doi:10.1016/j.xcrp.2022.100974 · Cited by 26
Protein Homeostasis Networks and the Use of Yeast to Guide Interventions in Alzheimer’s Disease
Dhakal, S., & Macreadie, I. G. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21218014 · Cited by 26
Role of Flavonoids in Mitigating the Pathological Complexities and Treatment Hurdles in Alzheimer's Disease
Chib, S., Dutta, B. J., Chalotra, R., Abubakar, M., Kumar, P., Singh, T. G., & Singh, R. (2024) · Phytotherapy Research · doi:10.1002/ptr.8406 · Cited by 24
Critical thinking on amyloid-beta-targeted therapy: challenges and perspectives
Sun, B., Chen, Y., Fan, D., Zhu, C., Zeng, F., & Wang, Y. (2020) · Science China Life Sciences · doi:10.1007/s11427-020-1810-y · Cited by 27
Genetic and Transcriptomic Biomarkers in Neurodegenerative Diseases: Current Situation and the Road Ahead
Lake, J., Storm, C. S., Makarious, M. B., & Bandrés‐Ciga, S. (2021) · Cells · doi:10.3390/cells10051030 · Cited by 24
Oxidative-Signaling in Neural Stem Cell-Mediated Plasticity: Implications for Neurodegenerative Diseases
dos Santos, M. F., Roxo, C., & Solá, S. (2021) · Antioxidants · doi:10.3390/antiox10071088 · Cited by 25
Circadian regulation in aging: Implications for spaceflight and life on earth
Malhan, D., Schoenrock, B., Yalçın, M., Blottner, D., & Relógio, A. (2023) · Aging Cell · doi:10.1111/acel.13935 · Cited by 25
Latest advances in mechanisms of epileptic activity in Alzheimer’s disease and dementia with Lewy Bodies
Vicente, M. C., Addo-Osafo, K., & Vossel, K. A. (2024) · Frontiers in Neurology · doi:10.3389/fneur.2024.1277613 · Cited by 25
Advances in the cell biology of the trafficking and processing of amyloid precursor protein: impact of familial Alzheimer's disease mutations
Wang, J., Fourrière, L., & Gleeson, P. A. (2024) · Biochemical Journal · doi:10.1042/bcj20240056 · Cited by 26
The landscape of autosomal-dominant Alzheimer’s disease: global distribution and age of onset
Liu, H., Marsh, T. W., Shi, X., Renton, A. E., Bowling, K. M., Ziegemeier, E., Wang, G., Cao, Y., Aristel, A., Li, J., et al. (2025) · Brain · doi:10.1093/brain/awaf038 · Cited by 25
Potential common pathogenesis of several neurodegenerative diseases
Fan, T., Peng, J., Liang, H., Chen, W., Wang, J., & Xu, R. (2025) · Neural Regeneration Research · doi:10.4103/nrr.nrr-d-24-01054 · Cited by 29
Association between the APOEε4 Allele and Late-Onset Alzheimer’s Disease in an Ecuadorian Mestizo Population
Montufar-Armendariz, S., Calero, C., Vinueza‐Gavilanes, R., Correa, P., Carrera-Gonzalez, A., Villegas, F., Moreta, G., & Paredes, R. (2017) · International Journal of Alzheimer s Disease · doi:10.1155/2017/1059678 · Cited by 30
A review of dementia, focusing on the distinct roles of viral protein corona and MMP9 in dementia: Potential pharmacotherapeutic priorities
Panda, S. P., & Soni, U. (2022) · Ageing Research Reviews · doi:10.1016/j.arr.2022.101560 · Cited by 22
Molecular Insights into Cell Type-specific Roles in Alzheimer’s Disease: Human Induced Pluripotent Stem Cell-based Disease Modelling
Qu, W., Canoll, P., & Hargus, G. (2023) · Neuroscience · doi:10.1016/j.neuroscience.2022.05.006 · Cited by 24
Ovariectomy-induced hormone deprivation aggravates Aβ1-42 deposition in the basolateral amygdala and cholinergic fiber loss in the cortex but not cognitive behavioral symptoms in a triple transgenic mouse model of Alzheimer’s disease
Farkas, S., Szabó, A., Török, B., Sólyomvári, C., Fazekas, C. L., Bánrévi, K., Correia, P., Chaves, T., & Zelena, D. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.985424 · Cited by 25
An Alternative View of Familial Alzheimer’s Disease Genetics
Lardelli, M. T. (2023) · Journal of Alzheimer s Disease · doi:10.3233/jad-230313 · Cited by 24
Beneficial effects of mitophagy enhancers on amyloid beta-induced mitochondrial and synaptic toxicities in Alzheimer’s disease
Kshirsagar, S., Reddy, A. P., & Reddy, P. H. (2025) · Mitochondrion · doi:10.1016/j.mito.2025.102038 · Cited by 23
Neuroinflammation and Alzheimer's disease: Unravelling the molecular mechanisms
Kakkar, A., Singh, H., Singh, B. K., Kumar, A., Mishra, A. K., & Chopra, H. (2025) · Journal of Alzheimer s Disease · doi:10.1177/13872877251374353 · Cited by 26
Therapeutic approaches of nutraceuticals in the prevention of Alzheimer's disease
Pandey, S. N., Singh, G., Semwal, B. C., Gupta, G., Alharbi, K. S., Almalki, W. H., Albratty, M., Najmi, A., & Meraya, A. M. (2022) · Journal of Food Biochemistry · doi:10.1111/jfbc.14426 · Cited by 23
MicroRNAs and synapse turnover in Alzheimer’s disease
Dalal, S., Ramirez-Gomez, J., Sharma, B., Devara, D., & Kumar, S. (2024) · Ageing Research Reviews · doi:10.1016/j.arr.2024.102377 · Cited by 22
Intranasal interferon beta improves memory and modulates inflammatory responses in a mutant APP-overexpressing rat model of Alzheimer’s disease
Chavoshinezhad, S., Kouchesfahani, H. M., Salehi, M. S., Pandamooz, S., Ahmadiani, A., & Dargahi, L. (2019) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2019.06.015 · Cited by 23
Common genetic signatures of Alzheimer’s disease in Down Syndrome
Sharma, A., Chunduri, A., Gopu, A., Shatrowsky, C., Crusio, W. E., & Delprato, A. (2020) · F1000Research · doi:10.12688/f1000research.27096.1 · Cited by 22

Authors: Lanoiselée, H.-M., Nicolas, G., Wallon, D., Rovelet-Lecrux, A., Lacour, M., Rousseau, S., Richard, A.-C., Pasquier, F., Rollin-Sillaire, A., Martinaud, O., Quillard-Muraine, M., de la Sayette, V., Boutoleau-Bretonniere, C., Etcharry-Bouyx, F., Chauviré, V., Sarazin, M., le Ber, I., Epelbaum, S., Jonveaux, T., Rouaud, O., Ceccaldi, M., Félician, O., Godefroy, O., Formaglio, M., Croisile, B., Auriacombe, S., Chamard, L., Vincent, J.-L., Sauvée, M., Marelli-Tosi, C., Gabelle, A., Ozsancak, C., Pariente, J., Paquet, C., Hannequin, D., Campion, D., & collaborators of the CNR-MAJ project
Affiliations: Inserm (FR)
Centre Hospitalier Universitaire d'Angers (FR)
Centre Hospitalier Sainte-Anne (FR)
Centre National de la Recherche Scientifique (FR)
Centre Hospitalier Régional et Universitaire de Nancy (FR)
CHU Dijon Bourgogne (FR)
Centre Hospitalier Universitaire Amiens-Picardie (FR)
Hospices Civils de Lyon (FR)
Centre Hospitalier Universitaire de Bordeaux (FR)
Centre Hospitalier Universitaire de Lille (FR)
Centre Hospitalier Universitaire de Grenoble (FR)
Centre Hospitalier Universitaire de Montpellier (FR)
Centre Hospitalier Universitaire de Toulouse (FR)
Corresponding author: Campion, Dominique
ORCID: Nicolas, Gaël
Wallon, David
Pasquier, Florence
Sarazin, Marie
Epelbaum, Stéphane
Jonveaux, Thérèse
Rouaud, Olivier
Ceccaldi, Mathieu
Félician, Olivier
Godefroy, Olivier
Croisile, Bernard
Sauvée, Mathilde
Gabelle, Audrey
Pariente, Jérémie
Paquet, Claire
Hannequin, Didier
Campion, Dominique
Venue: PLOS Medicine
Publisher: Public Library of Science (PLoS)
Published: 2017-03-28
Volume: 14
Issue: 3
Pages: e1002270
ISSN: 1549-1277 (ISSN-L)
1549-1676
DOI: 10.1371/journal.pmed.1002270
PMC: PMC5370101
OpenAlex: W2600872530
Cited by: 616
References: 44
Citations by year: 2026: 58 · 2025: 102 · 2024: 94 · 2023: 75 · 2022: 79 · 2021: 64 · 2020: 58 · 2019: 41 · 2018: 34 · 2017: 9
FWCI: 28.74
Type: journal article
Language: en
Open access: gold
doi.org
Licence: cc-by
creativecommons.org/licenses/by/4.0/ (vor)
Locations: PLoS Medicine (publishedVersion, cc-by)
PubMed Central (publishedVersion, cc-by)
PubMed (publishedVersion)
HAL (submittedVersion, cc-by)
DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Figshare (submittedVersion, cc-by)
LillOA (Université de Lille (University Of Lille)) (submittedVersion, cc-by)
Funders: Clinical Research Hospital Program from the French Ministry of Health (GMAJ 2008/067)
French Ministry of Health (CNR-MAJ)
European Union (JPND PERADES, ANR-13-JPRF-0001-04)
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 › Amyotrophic Lateral Sclerosis Research
Keywords: early-onset Alzheimer's disease, APP mutations, PSEN1 mutations, PSEN2 mutations, presenilin, amyloid precursor protein, novel mutations, de novo mutations, sporadic Alzheimer's disease, familial Alzheimer's disease, genetic screening, variant interpretation, cerebrospinal fluid biomarkers, total tau, phosphorylated tau, amyloid-beta 42, genetic counseling, mutation carriers
MeSH terms: Adult, Alzheimer Disease, Female, France, Genetic Testing, Humans, Male, Middle Aged, Mutation, Amyloid beta-Protein Precursor, Age of Onset, Presenilin-1, Presenilin-2

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

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases

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