Search

Your search keyword '"De Deyn, Peter P"' showing total 1,605 results
Start Over Author "De Deyn, Peter P"
1,605 results on '"De Deyn, Peter P"'

1. Correction: Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy

Author

Wang, Hui, Chang, Timothy S., Dombroski, Beth A., Cheng, Po-Liang, Patil, Vishakha, Valiente-Banuet, Leopoldo, Farrell, Kurt, Mclean, Catriona, Molina-Porcel, Laura, Rajput, Alex, De Deyn, Peter Paul, Le Bastard, Nathalie, Gearing, Marla, Kaat, Laura Donker, Van Swieten, John C., Dopper, Elise, Ghetti, Bernardino F., Newell, Kathy L., Troakes, Claire, de Yébenes, Justo G., Rábano-Gutierrez, Alberto, Meller, Tina, Oertel, Wolfgang H., Respondek, Gesine, Stamelou, Maria, Arzberger, Thomas, Roeber, Sigrun, Müller, Ulrich, Hopfner, Franziska, Pastor, Pau, Brice, Alexis, Durr, Alexandra, Le Ber, Isabelle, Beach, Thomas G., Serrano, Geidy E., Hazrati, Lili-Naz, Litvan, Irene, Rademakers, Rosa, Ross, Owen A., Galasko, Douglas, Boxer, Adam L., Miller, Bruce L., Seeley, Willian W., Van Deerlin, Vivanna M., Lee, Edward B., White, III, Charles L., Morris, Huw, de Silva, Rohan, Crary, John F., Goate, Alison M., Friedman, Jeffrey S., Leung, Yuk Yee, Coppola, Giovanni, Naj, Adam C., Wang, Li-San, Dalgard, Clifton, Dickson, Dennis W., Höglinger, Günter U., Schellenberg, Gerard D., Geschwind, Daniel H., and Lee, Wan-Ping

Published
2024
Full Text
View/download PDF

2. Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy

Author

Wang, Hui, Chang, Timothy S., Dombroski, Beth A., Cheng, Po-Liang, Patil, Vishakha, Valiente-Banuet, Leopoldo, Farrell, Kurt, Mclean, Catriona, Molina-Porcel, Laura, Rajput, Alex, De Deyn, Peter Paul, Le Bastard, Nathalie, Gearing, Marla, Kaat, Laura Donker, Van Swieten, John C., Dopper, Elise, Ghetti, Bernardino F., Newell, Kathy L., Troakes, Claire, de Yébenes, Justo G., Rábano-Gutierrez, Alberto, Meller, Tina, Oertel, Wolfgang H., Respondek, Gesine, Stamelou, Maria, Arzberger, Thomas, Roeber, Sigrun, Müller, Ulrich, Hopfner, Franziska, Pastor, Pau, Brice, Alexis, Durr, Alexandra, Le Ber, Isabelle, Beach, Thomas G., Serrano, Geidy E., Hazrati, Lili-Naz, Litvan, Irene, Rademakers, Rosa, Ross, Owen A., Galasko, Douglas, Boxer, Adam L., Miller, Bruce L., Seeley, Willian W., Van Deerlin, Vivanna M., Lee, Edward B., White, III, Charles L., Morris, Huw, de Silva, Rohan, Crary, John F., Goate, Alison M., Friedman, Jeffrey S., Leung, Yuk Yee, Coppola, Giovanni, Naj, Adam C., Wang, Li-San, Dalgard, Clifton, Dickson, Dennis W., Höglinger, Günter U., Schellenberg, Gerard D., Geschwind, Daniel H., and Lee, Wan-Ping

Published
2024
Full Text
View/download PDF

3. Brain age as a biomarker for pathological versus healthy ageing – a REMEMBER study

Author

Wittens, Mandy M.J., Denissen, Stijn, Sima, Diana M., Fransen, Erik, Niemantsverdriet, Ellis, Bastin, Christine, Benoit, Florence, Bergmans, Bruno, Bier, Jean-Christophe, de Deyn, Peter Paul, Deryck, Olivier, Hanseeuw, Bernard, Ivanoiu, Adrian, Picard, Gaëtane, Ribbens, Annemie, Salmon, Eric, Segers, Kurt, Sieben, Anne, Struyfs, Hanne, Thiery, Evert, Tournoy, Jos, van Binst, Anne-Marie, Versijpt, Jan, Smeets, Dirk, Bjerke, Maria, Nagels, Guy, and Engelborghs, Sebastiaan

Published
2024
Full Text
View/download PDF

4. An Interpretable Machine Learning Model with Deep Learning-based Imaging Biomarkers for Diagnosis of Alzheimer's Disease

Author

Kang, Wenjie, Li, Bo, Papma, Janne M., Jiskoot, Lize C., De Deyn, Peter Paul, Biessels, Geert Jan, Claassen, Jurgen A. H. R., Middelkoop, Huub A. M., van der Flier, Wiesje M., Ramakers, Inez H. G. B., Klein, Stefan, and Bron, Esther E.

Subjects
Electrical Engineering and Systems Science - Image and Video Processing, Computer Science - Computer Vision and Pattern Recognition
Abstract

Machine learning methods have shown large potential for the automatic early diagnosis of Alzheimer's Disease (AD). However, some machine learning methods based on imaging data have poor interpretability because it is usually unclear how they make their decisions. Explainable Boosting Machines (EBMs) are interpretable machine learning models based on the statistical framework of generalized additive modeling, but have so far only been used for tabular data. Therefore, we propose a framework that combines the strength of EBM with high-dimensional imaging data using deep learning-based feature extraction. The proposed framework is interpretable because it provides the importance of each feature. We validated the proposed framework on the Alzheimer's Disease Neuroimaging Initiative (ADNI) dataset, achieving accuracy of 0.883 and area-under-the-curve (AUC) of 0.970 on AD and control classification. Furthermore, we validated the proposed framework on an external testing set, achieving accuracy of 0.778 and AUC of 0.887 on AD and subjective cognitive decline (SCD) classification. The proposed framework significantly outperformed an EBM model using volume biomarkers instead of deep learning-based features, as well as an end-to-end convolutional neural network (CNN) with optimized architecture., Comment: 11 pages, 5 figures

Published
2023

7. Contributors

Author

Aaron, Sanjith, primary, Abraham, Ananth P., additional, Baraty, Lily J., additional, Castelo-Branco, Gonçalo, additional, Cho, Kyung-Ok, additional, Coppedè, Fabio, additional, De Deyn, Peter P., additional, Dekker, Alain D., additional, Dolga, Amalia M., additional, Gazerani, Parisa, additional, González Molina, Luis A., additional, Grayson, Dennis R., additional, Gropman, Andrea, additional, Hamilton, Peter J., additional, Hunter, Richard G., additional, Jagodic, Maja, additional, Kular, Lara, additional, Neri, G., additional, Peedicayil, Jacob, additional, Richter, Troy A., additional, Rots, Marianne G., additional, Sadle, Charles Jake, additional, Shewchuk, Brian M., additional, Silva, Gabriella M., additional, and Tabolacci, E., additional

Published
2024
Full Text
View/download PDF

8. Epigenetics and Down syndrome

Author

González Molina, Luis A., primary, Dekker, Alain D., additional, De Deyn, Peter P., additional, Dolga, Amalia M., additional, and Rots, Marianne G., additional

Published
2024
Full Text
View/download PDF

9. MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study

Author

Warner, Thomas T, Jaunmuktane, Zane, Boeve, Bradley F, Duara, Ranjan, Graff-Radford, Neill R, Josephs, Keith A, Knopman, David S, Koga, Shunsuke, Murray, Melissa E, Lyons, Kelly E, Pahwa, Rajesh, Petersen, Ronald C, Whitwell, Jennifer L, Grinberg, Lea T, Miller, Bruce, Schlereth, Athena, Spina, Salvatore, Grossman, Murray, Irwin, David J, Suh, EunRan, Trojanowski, John Q, Van Deerlin, Vivianna M, Wolk, David A, Connors, Theresa R, Dooley, Patrick M, Oakley, Derek H, Aldecoa, Iban, Balasa, Mircea, Gelpi, Ellen, Borrego-Écija, Sergi, Gascon-Bayarri, Jordi, Sánchez-Valle, Raquel, Sanz-Cartagena, Pilar, Piñol-Ripoll, Gerard, Bigio, Eileen H, Flanagan, Margaret E, Rogalski, Emily J, Weintraub, Sandra, Schneider, Julie A, Peng, Lihua, Zhu, Xiongwei, Chang, Koping, Troncoso, Juan C, Prokop, Stefan, Newell, Kathy L, Jones, Matthew, Richardson, Anna, Roncaroli, Federico, Snowden, Julie, Allinson, Kieren, Singh, Poonam, Serrano, Geidy E, Flowers, Xena E, Goldman, James E, Heaps, Allison C, Leskinen, Sandra P, Black, Sandra E, Masellis, Mario, King, Andrew, Al-Sarraj, Safa, Troakes, Claire, Hodges, John R, Kril, Jillian J, Kwok, John B, Piguet, Olivier, Roeber, Sigrun, Attems, Johannes, Thomas, Alan J, Evers, Bret M., Bieniek, Kevin F, Sieben, Anne A, Cras, Patrick P, De Vil, Bart B, Bird, Thomas, Castellani, Rudolph J, Chaffee, Ann, Franklin, Erin, Haroutunian, Vahram, Jacobsen, Max, Keene, Dirk, Latimer, Caitlin S, Metcalf, Jeff, Perrin, Richard J, Purohit, Dushyant P, Rissman, Robert A, Schantz, Aimee, Walker, Jamie, De Deyn, Peter P, Duyckaerts, Charles, Le Ber, Isabelle, Seilhean, Danielle, Turbant-Leclere, Sabrina, Ervin, John F, Nennesmo, Inger, Riehl, James, Nacmias, Benedetta, Finger, Elizabeth C, Blauwendraat, Cornelis, Nalls, Mike A, Singleton, Andrew B, Vitale, Dan, Cunha, Cristina, Wszolek, Zbigniew K, Valentino, Rebecca R, Scotton, William J, Roemer, Shanu F, Lashley, Tammaryn, Heckman, Michael G, Shoai, Maryam, Martinez-Carrasco, Alejandro, Tamvaka, Nicole, Walton, Ronald L, Baker, Matthew C, Macpherson, Hannah L, Real, Raquel, Soto-Beasley, Alexandra I, Mok, Kin, Revesz, Tamas, Christopher, Elizabeth A, DeTure, Michael, Seeley, William W, Lee, Edward B, Frosch, Matthew P, Molina-Porcel, Laura, Gefen, Tamar, Redding-Ochoa, Javier, Ghetti, Bernardino, Robinson, Andrew C, Kobylecki, Christopher, Rowe, James B, Beach, Thomas G, Teich, Andrew F, Keith, Julia L, Bodi, Istvan, Halliday, Glenda M, Gearing, Marla, Arzberger, Thomas, Morris, Christopher M, White, Charles L, 3rd, Mechawar, Naguib, Boluda, Susana, MacKenzie, Ian R, McLean, Catriona, Cykowski, Matthew D, Wang, Shih-Hsiu J, Graff, Caroline, Nagra, Rashed M, Kovacs, Gabor G, Giaccone, Giorgio, Neumann, Manuela, Ang, Lee-Cyn, Carvalho, Agostinho, Morris, Huw R, Rademakers, Rosa, Hardy, John A, Dickson, Dennis W, Rohrer, Jonathan D, and Ross, Owen A

Published
2024
Full Text
View/download PDF

10. New insights into the genetic etiology of Alzheimer’s disease and related dementias

Author

Bellenguez, Céline, Küçükali, Fahri, Jansen, Iris E, Kleineidam, Luca, Moreno-Grau, Sonia, Amin, Najaf, Naj, Adam C, Campos-Martin, Rafael, Grenier-Boley, Benjamin, Andrade, Victor, Holmans, Peter A, Boland, Anne, Damotte, Vincent, van der Lee, Sven J, Costa, Marcos R, Kuulasmaa, Teemu, Yang, Qiong, de Rojas, Itziar, Bis, Joshua C, Yaqub, Amber, Prokic, Ivana, Chapuis, Julien, Ahmad, Shahzad, Giedraitis, Vilmantas, Aarsland, Dag, Garcia-Gonzalez, Pablo, Abdelnour, Carla, Alarcón-Martín, Emilio, Alcolea, Daniel, Alegret, Montserrat, Alvarez, Ignacio, Álvarez, Victoria, Armstrong, Nicola J, Tsolaki, Anthoula, Antúnez, Carmen, Appollonio, Ildebrando, Arcaro, Marina, Archetti, Silvana, Pastor, Alfonso Arias, Arosio, Beatrice, Athanasiu, Lavinia, Bailly, Henri, Banaj, Nerisa, Baquero, Miquel, Barral, Sandra, Beiser, Alexa, Pastor, Ana Belén, Below, Jennifer E, Benchek, Penelope, Benussi, Luisa, Berr, Claudine, Besse, Céline, Bessi, Valentina, Binetti, Giuliano, Bizarro, Alessandra, Blesa, Rafael, Boada, Mercè, Boerwinkle, Eric, Borroni, Barbara, Boschi, Silvia, Bossù, Paola, Bråthen, Geir, Bressler, Jan, Bresner, Catherine, Brodaty, Henry, Brookes, Keeley J, Brusco, Luis Ignacio, Buiza-Rueda, Dolores, Bûrger, Katharina, Burholt, Vanessa, Bush, William S, Calero, Miguel, Cantwell, Laura B, Chene, Geneviève, Chung, Jaeyoon, Cuccaro, Michael L, Carracedo, Ángel, Cecchetti, Roberta, Cervera-Carles, Laura, Charbonnier, Camille, Chen, Hung-Hsin, Chillotti, Caterina, Ciccone, Simona, Claassen, Jurgen AHR, Clark, Christopher, Conti, Elisa, Corma-Gómez, Anaïs, Costantini, Emanuele, Custodero, Carlo, Daian, Delphine, Dalmasso, Maria Carolina, Daniele, Antonio, Dardiotis, Efthimios, Dartigues, Jean-François, de Deyn, Peter Paul, de Paiva Lopes, Katia, de Witte, Lot D, Debette, Stéphanie, Deckert, Jürgen, and del Ser, Teodoro

Subjects
Biochemistry and Cell Biology, Genetics, Biological Sciences, Dementia, Neurodegenerative, Prevention, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Alzheimer's Disease, Brain Disorders, Neurosciences, Aging, Acquired Cognitive Impairment, 2.1 Biological and endogenous factors, Neurological, Alzheimer Disease, Cognitive Dysfunction, Genome-Wide Association Study, Humans, tau Proteins, EADB, GR@ACE, DEGESCO, EADI, GERAD, Demgene, FinnGen, ADGC, CHARGE, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele.

Published
2022

11. Tau-targeting antisense oligonucleotide MAPTRx in mild Alzheimer’s disease: a phase 1b, randomized, placebo-controlled trial

Author

Mummery, Catherine J., Börjesson-Hanson, Anne, Blackburn, Daniel J., Vijverberg, Everard G. B., De Deyn, Peter Paul, Ducharme, Simon, Jonsson, Michael, Schneider, Anja, Rinne, Juha O., Ludolph, Albert C., Bodenschatz, Ralf, Kordasiewicz, Holly, Swayze, Eric E., Fitzsimmons, Bethany, Mignon, Laurence, Moore, Katrina M., Yun, Chris, Baumann, Tiffany, Li, Dan, Norris, Daniel A., Crean, Rebecca, Graham, Danielle L., Huang, Ellen, Ratti, Elena, Bennett, C. Frank, Junge, Candice, and Lane, Roger M.

Published
2023
Full Text
View/download PDF

12. Cross-Cohort Generalizability of Deep and Conventional Machine Learning for MRI-based Diagnosis and Prediction of Alzheimer's Disease

Author

Bron, Esther E., Klein, Stefan, Papma, Janne M., Jiskoot, Lize C., Venkatraghavan, Vikram, Linders, Jara, Aalten, Pauline, De Deyn, Peter Paul, Biessels, Geert Jan, Claassen, Jurgen A. H. R., Middelkoop, Huub A. M., Smits, Marion, Niessen, Wiro J., van Swieten, John C., van der Flier, Wiesje M., Ramakers, Inez H. G. B., and van der Lugt, Aad

Subjects
Electrical Engineering and Systems Science - Image and Video Processing, Computer Science - Computer Vision and Pattern Recognition, Physics - Medical Physics
Abstract

This work validates the generalizability of MRI-based classification of Alzheimer's disease (AD) patients and controls (CN) to an external data set and to the task of prediction of conversion to AD in individuals with mild cognitive impairment (MCI). We used a conventional support vector machine (SVM) and a deep convolutional neural network (CNN) approach based on structural MRI scans that underwent either minimal pre-processing or more extensive pre-processing into modulated gray matter (GM) maps. Classifiers were optimized and evaluated using cross-validation in the ADNI (334 AD, 520 CN). Trained classifiers were subsequently applied to predict conversion to AD in ADNI MCI patients (231 converters, 628 non-converters) and in the independent Health-RI Parelsnoer data set. From this multi-center study representing a tertiary memory clinic population, we included 199 AD patients, 139 participants with subjective cognitive decline, 48 MCI patients converting to dementia, and 91 MCI patients who did not convert to dementia. AD-CN classification based on modulated GM maps resulted in a similar AUC for SVM (0.940) and CNN (0.933). Application to conversion prediction in MCI yielded significantly higher performance for SVM (0.756) than for CNN (0.742). In external validation, performance was slightly decreased. For AD-CN, it again gave similar AUCs for SVM (0.896) and CNN (0.876). For prediction in MCI, performances decreased for both SVM (0.665) and CNN (0.702). Both with SVM and CNN, classification based on modulated GM maps significantly outperformed classification based on minimally processed images. Deep and conventional classifiers performed equally well for AD classification and their performance decreased only slightly when applied to the external cohort. We expect that this work on external validation contributes towards translation of machine learning to clinical practice.

Published
2020

14. Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society.

Author

Dierssen, Mara, Herault, Yann, Helguera, Pablo, Martínez de Lagran, Maria, Vazquez, Anna, Christian, Bradley, Carmona-Iragui, Maria, Wiseman, Frances, Mobley, William, Fisher, Elizabeth MC, Brault, Veronique, Esbensen, Anna, Jacola, Lisa M, Potier, Marie Claude, Hamlett, Eric D, Abbeduto, Leonard, Del Hoyo Soriano, Laura, Busciglio, Jorge, Iulita, Maria Florencia, Crispino, John, Malinge, Sébastien, Barone, Eugenio, Perluigi, Marzia, Costanzo, Floriana, Delabar, Jean Maurice, Bartesaghi, Renata, Dekker, Alain D, De Deyn, Peter, Fortea Ormaechea, Juan, Shaw, Patricia A, Haydar, Tarik F, Sherman, Stephanie L, Strydom, André, and Bhattacharyya, Anita

Subjects
Alzheimer's disease, Biomarkers, Down syndrome, Intellectual disability, Language impairment, Mouse models, Neurodevelopmental disorders, Trisomy 21 Research Society, Alzheimer&#8217, s disease, Down Syndrome, Neurosciences, Brain Disorders, Cancer, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Genetics, Clinical Sciences
Abstract

Research focused on Down syndrome has increased in the last several years to advance understanding of the consequences of trisomy 21 (T21) on molecular and cellular processes and, ultimately, on individuals with Down syndrome. The Trisomy 21 Research Society (T21RS) is the premier scientific organization for researchers and clinicians studying Down syndrome. The Third International Conference of T21RS, held June 6-9, 2019, in Barcelona, Spain, brought together 429 scientists, families, and industry representatives to share the latest discoveries on underlying cellular and molecular mechanisms of T21, define cognitive and behavioral challenges and better understand comorbidities associated with Down syndrome, including Alzheimer's disease and leukemia. Presentation of cutting-edge results in neuroscience, neurology, model systems, psychology, cancer, biomarkers and molecular and phar-ma-cological therapeutic approaches demonstrate the compelling interest and continuing advancement in all aspects of understanding and ameliorating conditions associated with T21.

Published
2021

15. PapRIV, a BV-2 microglial cell activating quorum sensing peptide.

Author

Janssens, Yorick, Debunne, Nathan, De Spiegeleer, Anton, Wynendaele, Evelien, Planas, Marta, Feliu, Lidia, Quarta, Alessandra, Claes, Christel, Van Dam, Debby, De Deyn, Peter Paul, Ponsaerts, Peter, Blurton-Jones, Matthew, and De Spiegeleer, Bart

Subjects
Blood-Brain Barrier, Brain, Microglia, Peptides, Inflammation Mediators, Culture Media, Conditioned, Protein Transport, Quorum Sensing, Feedback, Physiological, Biomarkers, Gastrointestinal Microbiome, Host Microbial Interactions, Neurosciences, Infectious Diseases, 1.1 Normal biological development and functioning, Underpinning research
Abstract

Quorum sensing peptides (QSPs) are bacterial peptides produced by Gram-positive bacteria to communicate with their peers in a cell-density dependent manner. These peptides do not only act as interbacterial communication signals, but can also have effects on the host. Compelling evidence demonstrates the presence of a gut-brain axis and more specifically, the role of the gut microbiota in microglial functioning. The aim of this study is to investigate microglial activating properties of a selected QSP (PapRIV) which is produced by Bacillus cereus species. PapRIV showed in vitro activating properties of BV-2 microglia cells and was able to cross the in vitro Caco-2 cell model and reach the brain. In vivo peptide presence was also demonstrated in mouse plasma. The peptide caused induction of IL-6, TNFα and ROS expression and increased the fraction of ameboid BV-2 microglia cells in an NF-κB dependent manner. Different metabolites were identified in serum, of which the main metabolite still remained active. PapRIV is thus able to cross the gastro-intestinal tract and the blood-brain barrier and shows in vitro activating properties in BV-2 microglia cells, hereby indicating a potential role of this quorum sensing peptide in gut-brain interaction.

Published
2021

17. Dementia in People with Severe/Profound Intellectual (and Multiple) Disabilities: Applicability of Items in Dementia Screening Instruments for People with Intellectual Disabilities

Author

Wissing, Maureen B. G., Dijkstra, Roos, van der Wal, Ina A., Grootendorst, Esther S., Hobbelen, Johannes S.M, van der Putten, Annette A. J., De Deyn, Peter P., Waninge, Aly, and Dekker, Alain D.

Abstract

Introduction: Diagnosing dementia in people with severe/profound intellectual (and multiple) disabilities (SPI(M)D) is complex. Whereas existing dementia screening instruments as a whole are unsuitable for this population, a number of individual items may apply. Therefore, this study aimed to identify applicable items in existing dementia screening instruments. Methods: Informant interviews about 40 people with SPI(M)D were conducted to identify applicable items in the Dementia Scale for Down Syndrome, Behavioral and Psychological Symptoms of Dementia in Down Syndrome II scale, Dementia Questionnaire for persons with Mental Retardation and Social competence Rating scale for people with Intellectual Disabilities. Results: Among 193 items, 101 items were found applicable, categorized in 5 domains: behavioral and psychological functioning (60 items), cognitive functioning (25), motor functioning (6), activities of daily living (5) and medical comorbidities (5). Conclusion: Identifying applicable items for people with SPI(M)D is an essential step in developing a dedicated dementia screening instrument for this population.

Published
2022
Full Text
View/download PDF

18. Dementia in People with Severe/Profound Intellectual (And Multiple) Disabilities: Practice-Based Observations of Symptoms

Author

Wissing, Maureen B. G., Fokkens, Andrea S., Dijkstra, Roos, Hobbelen, Johannes S. M., van der Putten, Annette A. J., De Deyn, Peter P., Waninge, Aly, and Dekker, Alain D.

Abstract

Introduction: Observable dementia symptoms are hardly studied in people with severe/profound intellectual (and multiple) disabilities (SPI(M)D). Insight in symptomatology is needed for timely signaling/diagnosis. This study aimed to identify practice-based observations of dementia symptoms in this population. Methods: Care professionals and family members were invited to complete a survey about symptoms. Quantitatively analyzed survey data were further deepened through semi-structured interviews with care professionals having vast experience in signaling/diagnosing dementia in this population. Symptoms were categorized using a symptom matrix. Results: Survey respondents and interviewees frequently observed a decline in activities of daily living (ADL) functioning and behavioral and psychological changes, like increased irritability, anxiety, apathy and decreased eating/drinking behavior. Cognitive symptoms were particularly recognized in persons with verbal communication and/or walking skills. To lesser extent motor changes and medical comorbidities were reported. Conclusion: Increased insight in dementia symptoms contributes to developing a dedicated screening instrument for dementia in people with SPI(M)D.

Published
2022
Full Text
View/download PDF

19. The Neglected Puzzle of Dementia in People with Severe/Profound Intellectual Disabilities: A Systematic Literature Review of Observable Symptoms

Author

Wissing, Maureen B. G., Ulgiati, Aurora M., Hobbelen, Johannes S. M., De Deyn, Peter P., Waninge, Aly, and Dekker, Alain D.

Abstract

Background: Dementia is increasingly prevalent in people with severe/profound intellectual disabilities. However, early detection and diagnosis of dementia is complex in this population. This study aimed to identify observable dementia symptoms in adults with severe/profound intellectual disabilities in available literature. Method: A systematic literature search was conducted in PubMed, PsycINFO and Web of Science with an exhaustive search string using a combination of search terms for severe/profound intellectual disabilities and dementia/ageing. Results: Eleven studies met inclusion criteria. Cognitive decline, behavioural and psychological alterations, decline in activities of daily living as well as neurological and physical changes were found. Conclusions: Only a very limited number of studies reported symptoms ascribed to dementia in adults with severe/profound intellectual disabilities. Given the complexity of signalling and diagnosing dementia, dedicated studies are required to unravel the natural history of dementia in this population.

Published
2022
Full Text
View/download PDF

20. Dementia in People with Severe or Profound Intellectual (and Multiple) Disabilities: Focus Group Research into Relevance, Symptoms and Training Needs

Author

Dekker, Alain D., Wissing, Maureen B. G., Ulgiati, Aurora M., Bijl, Bas, van Gool, Gaby, Groen, Marieke R., Grootendorst, Esther S., van der Wal, Ina A., Hobbelen, Johannes S. M., De Deyn, Peter P., and Waninge, Aly

Abstract

Background: Differentiating dementia from baseline level of functioning is difficult among people with severe/profound intellectual (and multiple) disabilities. Moreover, studies on observable dementia symptoms are scarce. This study examined (a) the relevance of dementia diagnosis, (b) observable symptoms and (c) training/information needs. Methods: Four explorative focus groups were held with care professionals and family members who have experience with people with severe/profound intellectual (and multiple) disabilities ([greater than or equal to]40 years) and decline/dementia. Results: Thematic analysis showed that participants wanted to know about a dementia diagnosis for a better understanding and to be able to make informed choices (question 1). Using a categorisation matrix, cognitive and behavioural changes were shown to be most prominent (question 2). Participants indicated that they needed enhanced training, more knowledge development and translation, and supportive organisational choices/policies (question 3). Conclusions: Timely identifying/diagnosing dementia allows for a timely response to changing needs. This requires a better understanding of symptoms.

Published
2021
Full Text
View/download PDF

21. Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

Author

Jansen, Iris E., van der Lee, Sven J., Gomez-Fonseca, Duber, de Rojas, Itziar, Dalmasso, Maria Carolina, Grenier-Boley, Benjamin, Zettergren, Anna, Mishra, Aniket, Ali, Muhammad, Andrade, Victor, Bellenguez, Céline, Kleineidam, Luca, Küçükali, Fahri, Sung, Yun Ju, Tesí, Niccolo, Vromen, Ellen M., Wightman, Douglas P., Alcolea, Daniel, Alegret, Montserrat, Alvarez, Ignacio, Amouyel, Philippe, Athanasiu, Lavinia, Bahrami, Shahram, Bailly, Henri, Belbin, Olivia, Bergh, Sverre, Bertram, Lars, Biessels, Geert Jan, Blennow, Kaj, Blesa, Rafael, Boada, Mercè, Boland, Anne, Buerger, Katharina, Carracedo, Ángel, Cervera-Carles, Laura, Chene, Geneviève, Claassen, Jurgen A. H. R., Debette, Stephanie, Deleuze, Jean-Francois, de Deyn, Peter Paul, Diehl-Schmid, Janine, Djurovic, Srdjan, Dols-Icardo, Oriol, Dufouil, Carole, Duron, Emmanuelle, Düzel, Emrah, Fladby, Tormod, Fortea, Juan, Frölich, Lutz, García-González, Pablo, Garcia-Martinez, Maria, Giegling, Ina, Goldhardt, Oliver, Gobom, Johan, Grimmer, Timo, Haapasalo, Annakaisa, Hampel, Harald, Hanon, Olivier, Hausner, Lucrezia, Heilmann-Heimbach, Stefanie, Helisalmi, Seppo, Heneka, Michael T., Hernández, Isabel, Herukka, Sanna-Kaisa, Holstege, Henne, Jarholm, Jonas, Kern, Silke, Knapskog, Anne-Brita, Koivisto, Anne M., Kornhuber, Johannes, Kuulasmaa, Teemu, Lage, Carmen, Laske, Christoph, Leinonen, Ville, Lewczuk, Piotr, Lleó, Alberto, de Munain, Adolfo López, Lopez-Garcia, Sara, Maier, Wolfgang, Marquié, Marta, Mol, Merel O., Montrreal, Laura, Moreno, Fermin, Moreno-Grau, Sonia, Nicolas, Gael, Nöthen, Markus M., Orellana, Adelina, Pålhaugen, Lene, Papma, Janne M., Pasquier, Florence, Perneczky, Robert, Peters, Oliver, Pijnenburg, Yolande A. L., Popp, Julius, Posthuma, Danielle, Pozueta, Ana, Priller, Josef, Puerta, Raquel, Quintela, Inés, Ramakers, Inez, Rodriguez-Rodriguez, Eloy, Rujescu, Dan, Saltvedt, Ingvild, Sanchez-Juan, Pascual, Scheltens, Philip, Scherbaum, Norbert, Schmid, Matthias, Schneider, Anja, Selbæk, Geir, Selnes, Per, Shadrin, Alexey, Skoog, Ingmar, Soininen, Hilkka, Tárraga, Lluís, Teipel, Stefan, Tijms, Betty, Tsolaki, Magda, Van Broeckhoven, Christine, Van Dongen, Jasper, van Swieten, John C., Vandenberghe, Rik, Vidal, Jean-Sébastien, Visser, Pieter J., Vogelgsang, Jonathan, Waern, Margda, Wagner, Michael, Wiltfang, Jens, Wittens, Mandy M. J., Zetterberg, Henrik, Zulaica, Miren, van Duijn, Cornelia M., Bjerke, Maria, Engelborghs, Sebastiaan, Jessen, Frank, Teunissen, Charlotte E., Pastor, Pau, Hiltunen, Mikko, Ingelsson, Martin, Andreassen, Ole A., Clarimón, Jordi, Sleegers, Kristel, Ruiz, Agustín, Ramirez, Alfredo, Cruchaga, Carlos, Lambert, Jean-Charles, and van der Flier, Wiesje

Published
2022
Full Text
View/download PDF

22. Tau promotes oxidative stress-associated cycling neurons in S phase as a pro-survival mechanism: Possible implication for Alzheimer’s disease

Author

Denechaud, Marine, Geurs, Sarah, Comptdaer, Thomas, Bégard, Séverine, Garcia-Núñez, Alejandro, Pechereau, Louis-Adrien, Bouillet, Thomas, Vermeiren, Yannick, De Deyn, Peter P., Perbet, Romain, Deramecourt, Vincent, Maurage, Claude-Alain, Vanderhaegen, Michiel, Vanuytven, Sebastiaan, Lefebvre, Bruno, Bogaert, Elke, Déglon, Nicole, Voet, Thierry, Colin, Morvane, Buée, Luc, Dermaut, Bart, and Galas, Marie-Christine

Published
2023
Full Text
View/download PDF

23. Author Correction: Tau-targeting antisense oligonucleotide MAPTRx in mild Alzheimer’s disease: a phase 1b, randomized, placebo-controlled trial

Author

Mummery, Catherine J., Börjesson-Hanson, Anne, Blackburn, Daniel J., Vijverberg, Everard G. B., De Deyn, Peter Paul, Ducharme, Simon, Jonsson, Michael, Schneider, Anja, Rinne, Juha O., Ludolph, Albert C., Bodenschatz, Ralf, Kordasiewicz, Holly, Swayze, Eric E., Fitzsimmons, Bethany, Mignon, Laurence, Moore, Katrina M., Yun, Chris, Baumann, Tiffany, Li, Dan, Norris, Daniel A., Crean, Rebecca, Graham, Danielle L., Huang, Ellen, Ratti, Elena, Bennett, C. Frank, Junge, Candice, and Lane, Roger M.

Published
2024
Full Text
View/download PDF

24. Cerebellar Mutism Syndrome in Children and Adults

Author

Mariën, Peter, Keulen, Stefanie, van Dun, Kim, De Smet, Hyo Jung, De Deyn, Peter P., Verhoeven, Jo, Paquier, Philippe, Schmahmann, Jeremy D., Section editor, Manto, Mario U., Section editor, Manto, Mario U., editor, Gruol, Donna L., editor, Schmahmann, Jeremy D., editor, Koibuchi, Noriyuki, editor, and Sillitoe, Roy V., editor

Published
2022
Full Text
View/download PDF

25. Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Author

Kunkle, Brian W, Grenier-Boley, Benjamin, Sims, Rebecca, Bis, Joshua C, Damotte, Vincent, Naj, Adam C, Boland, Anne, Vronskaya, Maria, van der Lee, Sven J, Amlie-Wolf, Alexandre, Bellenguez, Céline, Frizatti, Aura, Chouraki, Vincent, Martin, Eden R, Sleegers, Kristel, Badarinarayan, Nandini, Jakobsdottir, Johanna, Hamilton-Nelson, Kara L, Moreno-Grau, Sonia, Olaso, Robert, Raybould, Rachel, Chen, Yuning, Kuzma, Amanda B, Hiltunen, Mikko, Morgan, Taniesha, Ahmad, Shahzad, Vardarajan, Badri N, Epelbaum, Jacques, Hoffmann, Per, Boada, Merce, Beecham, Gary W, Garnier, Jean-Guillaume, Harold, Denise, Fitzpatrick, Annette L, Valladares, Otto, Moutet, Marie-Laure, Gerrish, Amy, Smith, Albert V, Qu, Liming, Bacq, Delphine, Denning, Nicola, Jian, Xueqiu, Zhao, Yi, Del Zompo, Maria, Fox, Nick C, Choi, Seung-Hoan, Mateo, Ignacio, Hughes, Joseph T, Adams, Hieab H, Malamon, John, Sanchez-Garcia, Florentino, Patel, Yogen, Brody, Jennifer A, Dombroski, Beth A, Naranjo, Maria Candida Deniz, Daniilidou, Makrina, Eiriksdottir, Gudny, Mukherjee, Shubhabrata, Wallon, David, Uphill, James, Aspelund, Thor, Cantwell, Laura B, Garzia, Fabienne, Galimberti, Daniela, Hofer, Edith, Butkiewicz, Mariusz, Fin, Bertrand, Scarpini, Elio, Sarnowski, Chloe, Bush, Will S, Meslage, Stéphane, Kornhuber, Johannes, White, Charles C, Song, Yuenjoo, Barber, Robert C, Engelborghs, Sebastiaan, Sordon, Sabrina, Voijnovic, Dina, Adams, Perrie M, Vandenberghe, Rik, Mayhaus, Manuel, Cupples, L Adrienne, Albert, Marilyn S, De Deyn, Peter P, Gu, Wei, Himali, Jayanadra J, Beekly, Duane, Squassina, Alessio, Hartmann, Annette M, Orellana, Adelina, Blacker, Deborah, Rodriguez-Rodriguez, Eloy, Lovestone, Simon, Garcia, Melissa E, Doody, Rachelle S, Munoz-Fernadez, Carmen, Sussams, Rebecca, Lin, Honghuang, Fairchild, Thomas J, and Benito, Yolanda A

Subjects
Biochemistry and Cell Biology, Biological Sciences, Prevention, Neurodegenerative, Neurosciences, Clinical Research, Dementia, Aging, Alzheimer's Disease, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Genetics, Brain Disorders, Acquired Cognitive Impairment, Alzheimer Disease Genetics Consortium, European Alzheimer’s Disease Initiative, Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium, Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Published
2019

26. Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Author

Kunkle, Brian W, Grenier-Boley, Benjamin, Sims, Rebecca, Bis, Joshua C, Damotte, Vincent, Naj, Adam C, Boland, Anne, Vronskaya, Maria, van der Lee, Sven J, Amlie-Wolf, Alexandre, Bellenguez, Céline, Frizatti, Aura, Chouraki, Vincent, Martin, Eden R, Sleegers, Kristel, Badarinarayan, Nandini, Jakobsdottir, Johanna, Hamilton-Nelson, Kara L, Moreno-Grau, Sonia, Olaso, Robert, Raybould, Rachel, Chen, Yuning, Kuzma, Amanda B, Hiltunen, Mikko, Morgan, Taniesha, Ahmad, Shahzad, Vardarajan, Badri N, Epelbaum, Jacques, Hoffmann, Per, Boada, Merce, Beecham, Gary W, Garnier, Jean-Guillaume, Harold, Denise, Fitzpatrick, Annette L, Valladares, Otto, Moutet, Marie-Laure, Gerrish, Amy, Smith, Albert V, Qu, Liming, Bacq, Delphine, Denning, Nicola, Jian, Xueqiu, Zhao, Yi, Del Zompo, Maria, Fox, Nick C, Choi, Seung-Hoan, Mateo, Ignacio, Hughes, Joseph T, Adams, Hieab H, Malamon, John, Sanchez-Garcia, Florentino, Patel, Yogen, Brody, Jennifer A, Dombroski, Beth A, Naranjo, Maria Candida Deniz, Daniilidou, Makrina, Eiriksdottir, Gudny, Mukherjee, Shubhabrata, Wallon, David, Uphill, James, Aspelund, Thor, Cantwell, Laura B, Garzia, Fabienne, Galimberti, Daniela, Hofer, Edith, Butkiewicz, Mariusz, Fin, Bertrand, Scarpini, Elio, Sarnowski, Chloe, Bush, Will S, Meslage, Stéphane, Kornhuber, Johannes, White, Charles C, Song, Yuenjoo, Barber, Robert C, Engelborghs, Sebastiaan, Sordon, Sabrina, Voijnovic, Dina, Adams, Perrie M, Vandenberghe, Rik, Mayhaus, Manuel, Cupples, L Adrienne, Albert, Marilyn S, De Deyn, Peter P, Gu, Wei, Himali, Jayanadra J, Beekly, Duane, Squassina, Alessio, Hartmann, Annette M, Orellana, Adelina, Blacker, Deborah, Rodriguez-Rodriguez, Eloy, Lovestone, Simon, Garcia, Melissa E, Doody, Rachelle S, Munoz-Fernadez, Carmen, Sussams, Rebecca, Lin, Honghuang, Fairchild, Thomas J, and Benito, Yolanda A

Subjects
Biochemistry and Cell Biology, Genetics, Biological Sciences, Dementia, Neurodegenerative, Prevention, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Alzheimer's Disease, Brain Disorders, Clinical Research, Neurosciences, Aging, Acquired Cognitive Impairment, Human Genome, 2.1 Biological and endogenous factors, Inflammatory and immune system, Neurological, Aged, Alzheimer Disease, Amyloid beta-Peptides, Case-Control Studies, Female, Genetic Loci, Genetic Predisposition to Disease, Genetic Testing, Genome-Wide Association Study, Haplotypes, Humans, Immunity, Lipid Metabolism, Lipids, Male, tau Proteins, Alzheimer Disease Genetics Consortium (ADGC), European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE), Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES), Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Risk for late-onset Alzheimer's disease (LOAD), the most prevalent dementia, is partially driven by genetics. To identify LOAD risk loci, we performed a large genome-wide association meta-analysis of clinically diagnosed LOAD (94,437 individuals). We confirm 20 previous LOAD risk loci and identify five new genome-wide loci (IQCK, ACE, ADAM10, ADAMTS1, and WWOX), two of which (ADAM10, ACE) were identified in a recent genome-wide association (GWAS)-by-familial-proxy of Alzheimer's or dementia. Fine-mapping of the human leukocyte antigen (HLA) region confirms the neurological and immune-mediated disease haplotype HLA-DR15 as a risk factor for LOAD. Pathway analysis implicates immunity, lipid metabolism, tau binding proteins, and amyloid precursor protein (APP) metabolism, showing that genetic variants affecting APP and Aβ processing are associated not only with early-onset autosomal dominant Alzheimer's disease but also with LOAD. Analyses of risk genes and pathways show enrichment for rare variants (P = 1.32 × 10-7), indicating that additional rare variants remain to be identified. We also identify important genetic correlations between LOAD and traits such as family history of dementia and education.

Published
2019

28. Validation and test–retest repeatability performance of parametric methods for [11C]UCB-J PET

Author

Tuncel, Hayel, Boellaard, Ronald, Coomans, Emma M., Hollander-Meeuwsen, Marijke den, de Vries, Erik F. J., Glaudemans, Andor W. J. M., Feltes, Paula Kopschina, García, David Vállez, Verfaillie, Sander C. J., Wolters, Emma E., Sweeney, Steven P., Ryan, J. Michael, Ivarsson, Magnus, Lynch, Berkley A., Schober, Patrick, Scheltens, Philip, Schuit, Robert C., Windhorst, Albert D., De Deyn, Peter P., van Berckel, Bart N. M., and Golla, Sandeep S. V.

Published
2022
Full Text
View/download PDF

29. MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study

Author

Valentino, Rebecca R, primary, Scotton, William J, additional, Roemer, Shanu F, additional, Lashley, Tammaryn, additional, Heckman, Michael G, additional, Shoai, Maryam, additional, Martinez-Carrasco, Alejandro, additional, Tamvaka, Nicole, additional, Walton, Ronald L, additional, Baker, Matthew C, additional, Macpherson, Hannah L, additional, Real, Raquel, additional, Soto-Beasley, Alexandra I, additional, Mok, Kin, additional, Revesz, Tamas, additional, Christopher, Elizabeth A, additional, DeTure, Michael, additional, Seeley, William W, additional, Lee, Edward B, additional, Frosch, Matthew P, additional, Molina-Porcel, Laura, additional, Gefen, Tamar, additional, Redding-Ochoa, Javier, additional, Ghetti, Bernardino, additional, Robinson, Andrew C, additional, Kobylecki, Christopher, additional, Rowe, James B, additional, Beach, Thomas G, additional, Teich, Andrew F, additional, Keith, Julia L, additional, Bodi, Istvan, additional, Halliday, Glenda M, additional, Gearing, Marla, additional, Arzberger, Thomas, additional, Morris, Christopher M, additional, White, Charles L, additional, Mechawar, Naguib, additional, Boluda, Susana, additional, MacKenzie, Ian R, additional, McLean, Catriona, additional, Cykowski, Matthew D, additional, Wang, Shih-Hsiu J, additional, Graff, Caroline, additional, Nagra, Rashed M, additional, Kovacs, Gabor G, additional, Giaccone, Giorgio, additional, Neumann, Manuela, additional, Ang, Lee-Cyn, additional, Carvalho, Agostinho, additional, Morris, Huw R, additional, Rademakers, Rosa, additional, Hardy, John A, additional, Dickson, Dennis W, additional, Rohrer, Jonathan D, additional, Ross, Owen A, additional, Warner, Thomas T, additional, Jaunmuktane, Zane, additional, Boeve, Bradley F, additional, Duara, Ranjan, additional, Graff-Radford, Neill R, additional, Josephs, Keith A, additional, Knopman, David S, additional, Koga, Shunsuke, additional, Murray, Melissa E, additional, Lyons, Kelly E, additional, Pahwa, Rajesh, additional, Petersen, Ronald C, additional, Whitwell, Jennifer L, additional, Grinberg, Lea T, additional, Miller, Bruce, additional, Schlereth, Athena, additional, Spina, Salvatore, additional, Grossman, Murray, additional, Irwin, David J, additional, Suh, EunRan, additional, Trojanowski, John Q, additional, Van Deerlin, Vivianna M, additional, Wolk, David A, additional, Connors, Theresa R, additional, Dooley, Patrick M, additional, Oakley, Derek H, additional, Aldecoa, Iban, additional, Balasa, Mircea, additional, Gelpi, Ellen, additional, Borrego-Écija, Sergi, additional, Gascon-Bayarri, Jordi, additional, Sánchez-Valle, Raquel, additional, Sanz-Cartagena, Pilar, additional, Piñol-Ripoll, Gerard, additional, Bigio, Eileen H, additional, Flanagan, Margaret E, additional, Rogalski, Emily J, additional, Weintraub, Sandra, additional, Schneider, Julie A, additional, Peng, Lihua, additional, Zhu, Xiongwei, additional, Chang, Koping, additional, Troncoso, Juan C, additional, Prokop, Stefan, additional, Newell, Kathy L, additional, Jones, Matthew, additional, Richardson, Anna, additional, Roncaroli, Federico, additional, Snowden, Julie, additional, Allinson, Kieren, additional, Singh, Poonam, additional, Serrano, Geidy E, additional, Flowers, Xena E, additional, Goldman, James E, additional, Heaps, Allison C, additional, Leskinen, Sandra P, additional, Black, Sandra E, additional, Masellis, Mario, additional, King, Andrew, additional, Al-Sarraj, Safa, additional, Troakes, Claire, additional, Hodges, John R, additional, Kril, Jillian J, additional, Kwok, John B, additional, Piguet, Olivier, additional, Roeber, Sigrun, additional, Attems, Johannes, additional, Thomas, Alan J, additional, Evers, Bret M., additional, Bieniek, Kevin F, additional, Sieben, Anne A, additional, Cras, Patrick P, additional, De Vil, Bart B, additional, Bird, Thomas, additional, Castellani, Rudolph J, additional, Chaffee, Ann, additional, Franklin, Erin, additional, Haroutunian, Vahram, additional, Jacobsen, Max, additional, Keene, Dirk, additional, Latimer, Caitlin S, additional, Metcalf, Jeff, additional, Perrin, Richard J, additional, Purohit, Dushyant P, additional, Rissman, Robert A, additional, Schantz, Aimee, additional, Walker, Jamie, additional, De Deyn, Peter P, additional, Duyckaerts, Charles, additional, Le Ber, Isabelle, additional, Seilhean, Danielle, additional, Turbant-Leclere, Sabrina, additional, Ervin, John F, additional, Nennesmo, Inger, additional, Riehl, James, additional, Nacmias, Benedetta, additional, Finger, Elizabeth C, additional, Blauwendraat, Cornelis, additional, Nalls, Mike A, additional, Singleton, Andrew B, additional, Vitale, Dan, additional, Cunha, Cristina, additional, and Wszolek, Zbigniew K, additional

Published
2024
Full Text
View/download PDF

34. Paving the Way for Therapy: The Second International Conference of the Trisomy 21 Research Society

Author

Reeves, Roger H, Delabar, Jean, Potier, Marie-Claude, Bhattacharyya, Anita, Head, Elizabeth, Lemere, Cynthia, Dekker, Alain D, De Deyn, Peter, Caviedes, Pablo, Dierssen, Mara, and Busciglio, Jorge

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Down Syndrome, Intellectual and Developmental Disabilities (IDD), Acquired Cognitive Impairment, Brain Disorders, Alzheimer disease, Down syndrome, Trisomy 21 Research Society, Clinical sciences
Abstract

In the last decade, a number of important research advances in different fields have allowed Down syndrome (DS) research to flourish, creating a time of both unparalleled opportunity and considerable challenge. Building a scientific framework that distills mechanisms involved in the developmental intellectual disability of DS as well as the early-onset component of Alzheimer disease and the several other comorbidities associated with the condition is a challenge that scientists are now tackling using novel technologies and multidisciplinary approaches. The Trisomy 21 Research Society (T21RS) was founded in 2014 to address these evolving needs and challenges. In June of 2017, the T21RS held its 2nd International Conference in Chicago, USA. With more than 200 scientists, advocates, people with DS, and family members in attendance, the meeting served as a forum for the discussion of the latest research and clinical advances as well as the most compelling needs of people with DS and their families.

Published
2018

40. Alterations in Gray Matter Structural Networks in Amnestic Mild Cognitive Impairment: A Source-Based Morphometry Study.

Author

Setiadi, Tania M., Marsman, Jan-Bernard C., Martens, Sander, Tumati, Shankar, Opmeer, Esther M., Reesink, Fransje E., De Deyn, Peter P., Atienza, Mercedes, Aleman, André, and Cantero, Jose L.

Subjects
AMNESTIC mild cognitive impairment, VOXEL-based morphometry, ALZHEIMER'S disease, MAGNETIC resonance imaging, GRAY matter (Nerve tissue)
Abstract

Background: Amnestic mild cognitive impairment (aMCI), considered as the prodromal stage of Alzheimer's disease, is characterized by isolated memory impairment and cerebral gray matter volume (GMV) alterations. Previous structural MRI studies in aMCI have been mainly based on univariate statistics using voxel-based morphometry. Objective: We investigated structural network differences between aMCI patients and cognitively normal older adults by using source-based morphometry, a multivariate approach that considers the relationship between voxels of various parts of the brain. Methods: Ninety-one aMCI patients and 80 cognitively normal controls underwent structural MRI and neuropsychological assessment. Spatially independent components (ICs) that covaried between participants were estimated and a multivariate analysis of covariance was performed with ICs as dependent variables, diagnosis as independent variable, and age, sex, education level, and site as covariates. Results: aMCI patients exhibited reduced GMV in the precentral, temporo-cerebellar, frontal, and temporal network, and increased GMV in the left superior parietal network compared to controls (pFWER < 0.05, Holm-Bonferroni correction). Moreover, we found that diagnosis, more specifically aMCI, moderated the positive relationship between occipital network and Mini-Mental State Examination scores (pFWER < 0.05, Holm-Bonferroni correction). Conclusions: Our results showed GMV alterations in temporo-fronto-parieto-cerebellar networks in aMCI, extending previous results obtained with univariate approaches. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

41. Noradrenaline release from the locus coeruleus shapes stress-induced hippocampal gene expression

Author

Privitera, Mattia, primary, von Ziegler, Lukas M, additional, Floriou-Servou, Amalia, additional, Duss, Sian N, additional, Zhang, Runzhong, additional, Waag, Rebecca, additional, Leimbacher, Sebastian, additional, Sturman, Oliver, additional, Roessler, Fabienne K, additional, Heylen, Annelies, additional, Vermeiren, Yannick, additional, Van Dam, Debby, additional, De Deyn, Peter P, additional, Germain, Pierre-Luc, additional, and Bohacek, Johannes, additional

Published
2024
Full Text
View/download PDF

42. Author Response: Noradrenaline release from the locus coeruleus shapes stress-induced hippocampal gene expression

Author

Privitera, Mattia, primary, von Ziegler, Lukas Matthias, additional, Floriou-Servou, Amalia, additional, Duss, Sian N, additional, Zhang, Runzhong, additional, Waag, Rebecca, additional, Leimbacher, Sebastian, additional, Sturman, Oliver, additional, Roessler, Fabienne, additional, Heylen, Annelies, additional, Vermeiren, Yannick, additional, Van Dam, Debby, additional, De Deyn, Peter P, additional, Germain, Pierre-Luc, additional, and Bohacek, Johannes, additional

Published
2024
Full Text
View/download PDF

43. Small vessel disease burden and functional brain connectivity in mild cognitive impairment

Author

Neurologen, Brain, Circulatory Health, Marcolini, Sofia, Mondragón, Jaime D, Bron, Esther E, Biessels, Geert J, Claassen, Jurgen A H R, Papma, Janne M, Middelkoop, Huub, Dierckx, Rudi A J O, Borra, Ronald J H, Ramakers, Inez H G B, van der Flier, Wiesje M, Maurits, Natasha M, De Deyn, Peter P, Neurologen, Brain, Circulatory Health, Marcolini, Sofia, Mondragón, Jaime D, Bron, Esther E, Biessels, Geert J, Claassen, Jurgen A H R, Papma, Janne M, Middelkoop, Huub, Dierckx, Rudi A J O, Borra, Ronald J H, Ramakers, Inez H G B, van der Flier, Wiesje M, Maurits, Natasha M, and De Deyn, Peter P

Published
2024

49. Alzheimer’s disease cerebrospinal fluid biomarker in cognitively normal subjects

Author

Toledo, Jon B, Zetterberg, Henrik, van Harten, Argonde C, Glodzik, Lidia, Martinez-Lage, Pablo, Bocchio-Chiavetto, Luisella, Rami, Lorena, Hansson, Oskar, Sperling, Reisa, Engelborghs, Sebastiaan, Osorio, Ricardo S, Vanderstichele, Hugo, Vandijck, Manu, Hampel, Harald, Teipl, Stefan, Moghekar, Abhay, Albert, Marilyn, Hu, William T, Argilés, Jose A Monge, Gorostidi, Ana, Teunissen, Charlotte E, De Deyn, Peter P, Hyman, Bradley T, Molinuevo, Jose L, Frisoni, Giovanni B, Linazasoro, Gurutz, de Leon, Mony J, van der Flier, Wiesje M, Scheltens, Philip, Blennow, Kaj, Shaw, Leslie M, and Trojanowski, John Q

Subjects
Biomedical and Clinical Sciences, Health Sciences, Psychology, Alzheimer's Disease, Neurodegenerative, Clinical Research, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Aging, Dementia, Acquired Cognitive Impairment, Brain Disorders, 2.1 Biological and endogenous factors, 4.2 Evaluation of markers and technologies, Neurological, Adult, Age Factors, Aged, Aged, 80 and over, Alzheimer Disease, Amyloid beta-Peptides, Analysis of Variance, Apolipoproteins E, Cognition, Cohort Studies, Female, Humans, Male, Middle Aged, Neurodegenerative Diseases, Neuropsychological Tests, Peptide Fragments, Severity of Illness Index, tau Proteins, Alzheimer's disease, dementia, biomarkers, cognitive ageing, imaging, Alzheimer’s Disease Neuroimaging Initiative, Alzheimer’s disease, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery, Biomedical and clinical sciences, Health sciences
Abstract

In a large multicentre sample of cognitively normal subjects, as a function of age, gender and APOE genotype, we studied the frequency of abnormal cerebrospinal fluid levels of Alzheimer's disease biomarkers including: total tau, phosphorylated tau and amyloid-β1-42. Fifteen cohorts from 12 different centres with either enzyme-linked immunosorbent assays or Luminex® measurements were selected for this study. Each centre sent nine new cerebrospinal fluid aliquots that were used to measure total tau, phosphorylated tau and amyloid-β1-42 in the Gothenburg laboratory. Seven centres showed a high correlation with the new Gothenburg measurements; therefore, 10 cohorts from these centres are included in the analyses here (1233 healthy control subjects, 40-84 years old). Amyloid-β amyloid status (negative or positive) and neurodegeneration status (negative or positive) was established based on the pathological cerebrospinal fluid Alzheimer's disease cut-off values for cerebrospinal fluid amyloid-β1-42 and total tau, respectively. While gender did not affect these biomarker values, APOE genotype modified the age-associated changes in cerebrospinal fluid biomarkers such that APOE ε4 carriers showed stronger age-related changes in cerebrospinal fluid phosphorylated tau, total tau and amyloid-β1-42 values and APOE ε2 carriers showed the opposite effect. At 40 years of age, 76% of the subjects were classified as amyloid negative, neurodegeneration negative and their frequency decreased to 32% at 85 years. The amyloid-positive neurodegeneration-negative group remained stable. The amyloid-negative neurodegeneration-positive group frequency increased slowly from 1% at 44 years to 16% at 85 years, but its frequency was not affected by APOE genotype. The amyloid-positive neurodegeneration-positive frequency increased from 1% at 53 years to 28% at 85 years. Abnormally low cerebrospinal fluid amyloid-β1-42 levels were already frequent in midlife and APOE genotype strongly affects the levels of cerebrospinal fluid amyloid-β1-42, phosphorylated tau and total tau across the lifespan without influencing the frequency of subjects with suspected non-amyloid pathology.

Published
2015

50. Genome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansions

Author

Reus, Lianne M., Jansen, Iris E., Mol, Merel O., van Ruissen, Fred, van Rooij, Jeroen, van Schoor, Natasja M., Tesi, Niccolò, Reinders, Marcel J. T., Huisman, Martijn A., Holstege, Henne, Visser, Pieter Jelle, de Boer, Sterre C. M., Hulsman, Marc, Ahmad, Shahzad, Amin, Najaf, Uitterlinden, Andre G., Ikram, Arfan, van Duijn, Cornelia M., Seelaar, Harro, Ramakers, Inez H. G. B., Verhey, Frans R. J., van der Lugt, Aad, Claassen, Jurgen A. H. R., Jan Biessels, Geert, De Deyn, Peter Paul, Scheltens, Philip, van der Flier, Wiesje M., van Swieten, John C., Pijnenburg, Yolande A. L., and van der Lee, Sven J.

Published
2021
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results