Cognitive, Genetic, Brain Volume, and Diffusion Tensor Imaging Markers as Early Indicators of Dementia

Autor: Müller, Theresa, Payton, Nicola M., Kalpouzos, Grégoria, Jessen, Frank, Grande, Giulia, Bäckman, Lars, Laukka, Erika J.

Publikováno v: Journal of Alzheimer's Disease
Journal of Alzheimer's disease 77(4), 1443-1453 (2020). doi:10.3233/JAD-200445

Background: Although associated with dementia and cognitive impairment, microstructural white matter integrity is a rarely used marker of preclinical dementia. Objective: We aimed to evaluate the individual and combined effects of multiple markers, w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::193424fd1d334ba085e7fe9afcc2abc5
http://europepmc.org/articles/PMC7683082

A comprehensive analysis of copy number variation in a Turkish dementia cohort

Autor: Gamze Guven, Hasmet Hanagasi, Başar Bilgiç, Ebba Lohmann, Catarina Gouveia, Celia Kun-Rodrigues, Rita Guerreiro, Kalina Foster, Hakan Gurvit, Nadia Dehghani, Jose Bras, Bedia Samanci

Publikováno v: Human Genomics, Vol 15, Iss 1, Pp 1-12 (2021)
Human Genomics
Human genomics 15(1), 48 (2021). doi:10.1186/s40246-021-00346-z

Background Copy number variants (CNVs) include deletions or multiplications spanning genomic regions. These regions vary in size and may span genes known to play a role in human diseases. As examples, duplications and triplications of SNCA have been

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https://doi.org/10.1186/s40246-021-00346-z

Midlife vascular risk factors and risk of incident dementia: Longitudinal cohort and Mendelian randomization analyses in the UK Biobank

Autor: Sudha Seshadri, Rainer Malik, Michael Ewers, Julia Neitzel, Marios K. Georgakis, Kristiina Rannikmäe, Cathie Sudlow, Martin Dichgans

Publikováno v: Alzheimer's & Dementia
Alzheimer's and dementia 17(9), 1422-1431 (2021). doi:10.1002/alz.12320

Introduction Midlife clustering of vascular risk factors has been associated with late-life dementia, but causal effects of individual biological and lifestyle factors remain largely unknown. Methods Among 229,976 individuals (mean follow-up 9 years)

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https://pubmed.ncbi.nlm.nih.gov/33749976

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

Autor: van der Lee, Sven J, Conway, Olivia J, Jansen, Iris, Carrasquillo, Minerva M, Kleineidam, Luca, van den Akker, Erik, Hernández, Isabel, van Eijk, Kristel R, Stringa, Najada, Chen, Jason A, Zettergren, Anna, Andlauer, Till F M, Diez-Fairen, Monica, Simon-Sanchez, Javier, Lleó, Alberto, Zetterberg, Henrik, Nygaard, Marianne, Blauwendraat, Cornelis, Savage, Jeanne E, Mengel-From, Jonas, Moreno-Grau, Sonia, Wagner, Michael, Fortea, Juan, Keogh, Michael J, Blennow, Kaj, Skoog, Ingmar, Friese, Manuel A, Pletnikova, Olga, Zulaica, Miren, Lage, Carmen, de Rojas, Itziar, Riedel-Heller, Steffi, Illán-Gala, Ignacio, Wei, Wei, Jeune, Bernard, Orellana, Adelina, Then Bergh, Florian, Wang, Xue, Hulsman, Marc, Beker, Nina, Tesi, Niccolo, Morris, Christopher M, Indakoetxea, Begoña, Collij, Lyduine E, Scherer, Martin, Morenas-Rodríguez, Estrella, Ifgc, Raffaele, Ferrari, Hernandez, Dena G., Nalls, Michael A., Rohrer, Jonathan D., Adaikalavanramasamy, Kwok, John B. J., Carol, Dobson-Stone, Brooks, William S., Schofield, Peterr., Halliday, Glenda M., Hodges, John R., Olivier, Piguet, Laurenbartley, Elizabeth, Thompson, Eric, Haan, Isabel, Hernández, Agustín, Ruiz, Mercè, Boada, Barbara, Borroni, Alessandro, Padovani, Carlos, Cruchaga, Cairns, Nigel J., Luisa, Benussi, Giuliano, Binetti, Roberta, Ghidoni, Gianluigiforloni, Daniela, Galimberti, Chiara, Fenoglio, Maria, Serpente, Elio, Scarpini, Jordi, Clarimón, Alberto, Lleó, Rafael, Blesa, Maria Landqvist Waldö, Karinnilsson, Christer, Nilsson, Mackenzie, Ian R. A., Hsiung, Ging-Yuek R., Mann, DavidM. A., Jordan, Grafman, Morris, Christopher M., Johannes, Attems, Griffiths, Timothy D., Mckeith, Ian G., Thomas, Alan J., Pietrini, P., Huey, Edward D., Wassermann, Eric M., Atik, Baborie, Evelyn, Jaros, Tierney, Michael C., Pau, Pastor, Cristina, Razquin, Sara, Ortega-Cubero, Elena, Alonso, Robertperneczky, Janine, Diehl-Schmid, Panagiotis, Alexopoulos, Alexander, Kurz, Rainero, Innocenzo, Rubino, Elisa, Pinessi, Lorenzo, Ekaterina, Rogaeva, George-Hyslop, Peterst., Giacomina, Rossi, Fabrizio, Tagliavini, Giorgio, Giaccone, Rowe, James B., Schlachetzki, Johannes C. M., James, Uphill, John, Collinge, Simon, Mead, Adrian, Danek, Van Deerlin, Vivianna M., Murray, Grossman, Trojanowski, John Q., Julie van der Zee, William, Deschamps, Tim, Vanlangenhove, Marc, Cruts, Christine Van Broeckhoven, Cappa, Stefano F., Isabelle Le Ber, Didier, Hannequin, Véronique, Golfier, Martine, Vercelletto, Alexis, Brice, Benedetta, Nacmias, Sandro, Sorbi, Silvia, Bagnoli, Irene, Piaceri, Nielsen, Jørgen E., Hjermind, Lena E., Matthias, Riemenschneider, Manuelmayhaus, Bernd, Ibach, Gilles, Gasparoni, Sabrina, Pichler, Wei, Gu, Rossor, Martin N., Fox, Nick C., Warren, Jason D., Maria Grazia Spillantini, Morris, Huw R., Patrizia, Rizzu, Peter, Heutink, Snowden, Julie S., Sara, Rollinson, Annarichardson, Alexander, Gerhard, Bruni, Amalia C., Raffaele, Maletta, Fran-cesca, Frangipane, Chiara, Cupidi, Livia, Bernardi, Maria, Anfossi, Maura, Gallo, Maria Elena Conidi, Nicoletta, Smirne, Rosa, Rademakers, Matt, Baker, Dickson, Dennis W., Graff-Radford, Neill R., Petersen, Ronald C., Davidknopman, Josephs, Keith A., Boeve, Bradley F., Parisi, Joseph E., Seeley, William W., Miller, Bruce L., Karydas, Anna M., Howard, Rosen, Vanswieten, John C., Dopper, Elise G. P., Harro, Seelaar, Pijnenburg, Yolande A. L., Philipscheltens, Giancarlo, Logroscino, Rosa, Capozzo, Valeria, Novelli, Puca, Annibale A., Massimo, Franceschi, Alfredo, Postiglione, Graziella, Milan, Paolosorrentino, Mark, Kristiansen, Huei-Hsin, Chiang, Caroline, Graff, Florencepasquier, Adeline, Rollin, Vincent, Deramecourt, Florence, Lebert, Dimitrioskapogiannis, Luigi, Ferrucci, Stuart, Pickering-Brown, Singleton, Andrew B., John, Hardy, Parastoo, Momeni, Ironside, James W, van Berckel, Bart N M, Alcolea, Daniel, Wiendl, Heinz, Strickland, Samantha L, Pastor, Pau, Rodríguez Rodríguez, Eloy, Boeve, Bradley F, Petersen, Ronald C, Ferman, Tanis J, van Gerpen, Jay A, Reinders, Marcel J T, Uitti, Ryan J, Tárraga, Lluís, Maier, Wolfgang, Dols-Icardo, Oriol, Kawalia, Amit, Dalmasso, Maria Carolina, Boada, Mercè, Zettl, Uwe K, van Schoor, Natasja M, Beekman, Marian, Allen, Mariet, Masliah, Eliezer, de Munain, Adolfo López, Pantelyat, Alexander, Wszolek, Zbigniew K, Ross, Owen A, Dickson, Dennis W, Graff-Radford, Neill R, Knopman, David, Rademakers, Rosa, Lemstra, Afina W, Pijnenburg, Yolande A L, Scheltens, Philip, Gasser, Thomas, Chinnery, Patrick F, Hemmer, Bernhard, Huisman, Martijn A, Troncoso, Juan, Moreno, Fermin, Nohr, Ellen A, Sørensen, Thorkild I A, Heutink, Peter, Sánchez-Juan, Pascual, Posthuma, Danielle, Clarimón, Jordi, Christensen, Kaare, Ertekin-Taner, Nilüfer, Scholz, Sonja W, Ramirez, Alfredo, Ruiz, Agustín, Slagboom, Eline, van der Flier, Wiesje M, Holstege, Henne

Publikováno v: ACTA NEUROPATHOLOGICA
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
van der Lee, S J, Conway, O J, Jansen, I, Carrasquillo, M M, Kleineidam, L, van den Akker, E, Hernandez, I, van Eijk, K R, Stringa, N, Chen, J A, Zettergren, A, Andlauer, T F M, Diez-Fairen, M, Simon-Sanchez, J, Lleo, A, Zetterberg, H, Nygaard, M, Blauwendraat, C, Savage, J E, Mengel-From, J, Moreno-Grau, S, Wagner, M, Fortea, J, Keogh, M J, Blennow, K, Skoog, I, Friese, M A, Pletnikova, O, Zulaica, M, Lage, C, de Rojas, I, Riedel-Heller, S, Illan-Gala, I, Wei, W, Jeune, B, Orellana, A, Bergh, F T, Wang, X, Hulsman, M, Beker, N, Tesi, N, Morris, C M, Indakoetxea, B, Collij, L E, Scherer, M, Morenas-Rodriguez, E, Ironside, J W, van Berckel, B N M, Alcolea, D, Wiendl, H, Strickland, S L, Pastor, P, Rodriguez Rodriguez, E, Boeve, B F, Petersen, R C, Ferman, T J, van Gerpen, J A, Reinders, M J T, Uitti, R J, Tarraga, L, Maier, W, Dols-Icardo, O, Kawalia, A, Dalmasso, M C, Boada, M, Zettl, U K, van Schoor, N M, Beekman, M, Allen, M, Masliah, E, Lopez de Munain, A, Pantelyat, A, Wszolek, Z K, Ross, O A, Dickson, D W, Graff-Radford, N R, Knopman, D, Rademakers, R, Lemstra, A W, Pijnenburg, Y A L, Scheltens, P, Gasser, T, Chinnery, P F, Hemmer, B, Huisman, M A, Troncoso, J, Moreno, F, Nohr, E A, Sørensen, T I A, Heutink, P, Sanchez-Juan, P, Posthuma, D, Clarimon, J, Christensen, K, Ertekin-Taner, N, Scholz, S W, Ramirez, A, Ruiz, A, Slagboom, E, van der Flier, W M & Holstege, H 2019, ' A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity ', Acta Neuropathologica, vol. 138, no. 2, pp. 237-250 . https://doi.org/10.1007/s00401-019-02026-8
Acta neuropathologica 138(2), 237-250 (2019). doi:10.1007/s00401-019-02026-8
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Acta Neuropathologica, 138(2)
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Acta Neuropathologica
Acta Neuropathologica, 138(2), 237-250. Springer Verlag
Acta Neuropathol . 2019 Aug;138(2):237-250.
Acta neuropathologica
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
2019, ' A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity ', Acta Neuropathologica, vol. 138, no. 2, pp. 237-250 . https://doi.org/10.1007/s00401-019-02026-8
DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank), EADB (Alzheimer Disease European DNA biobank), IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia), Netherlands Brain Bank (NBB) & The GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group 2019, ' A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity ', Acta Neuropathologica, vol. 138, no. 2, pp. 237-250 . https://doi.org/10.1007/s00401-019-02026-8
van der Lee, S J, Conway, O J, Jansen, I, Carrasquillo, M M, Kleineidam, L, van den Akker, E, Hernández, I, van Eijk, K R, Stringa, N, Chen, J A, Zettergren, A, Andlauer, T F M, Diez-Fairen, M, Simon-Sanchez, J, Lleó, A, Zetterberg, H, Nygaard, M, Blauwendraat, C, Savage, J E, Mengel-From, J, Moreno-Grau, S, Wagner, M, Fortea, J, Keogh, M J, Blennow, K, Skoog, I, Friese, M A, Pletnikova, O, Zulaica, M, Lage, C, de Rojas, I, Riedel-Heller, S, Illán-Gala, I, Wei, W, Jeune, B, Hulsman, M, Beker, N, Tesi, N, Collij, L E, van Berckel, B N M, Reinders, M J T, van Schoor, N M, Lemstra, A W, Pijnenburg, Y A L, Scheltens, P, Huisman, M A, Heutink, P, Posthuma, D, van der Flier, W M, Holstege, H, DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank), EADB (Alzheimer Disease European DNA biobank), IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia), Netherlands Brain Bank (NBB) & The GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group 2019, ' A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity ', Acta Neuropathologica, vol. 138, no. 2, pp. 237-250 . https://doi.org/10.1007/s00401-019-02026-8
Acta Neuropathologica, 138(2), 237-250

ATENCIÓ: la correcció està també al DDD, cal relacionar??? https://ddd.uab.cat/record/226203 Altres ajuts: The following studies and consortia have contributed to this manuscript. Amsterdam dementia Cohort (ADC): Research of the Alzheimer center

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::236c815c1d8287553434b852a305ebcb
http://resolver.tudelft.nl/uuid:b7e2ad7e-e291-43f4-8c33-95864a933508

Genetic Study of White Matter Integrity in UK Biobank (N=8448) and the Overlap With Stroke, Depression, and Dementia

Autor: Rutten-Jacobs, Loes C.A., Tozer, Daniel J., Duering, Marco, Malik, Rainer, Dichgans, Martin, Markus, Hugh S., Traylor, Matthew

Publikováno v: Stroke 49(6), 1340-1347 (2018). doi:10.1161/STROKEAHA.118.020811
Stroke

Supplemental Digital Content is available in the text.
Background and Purpose— Structural integrity of the white matter is a marker of cerebral small vessel disease, which is the major cause of vascular dementia and a quarter of all strokes. G

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::136cb45313d6590827a99e7dcc48c7b7
https://pub.dzne.de/record/139973