94 results on '"Ripoll G"'
Search Results
2. Spanish-Dementia Knowledge Assessment Scale (DKAS-S): Ecuadorian validation and comparison among Spanish health students
- Author
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Carnes-Vendrell A., Barallat-Gimeno E., Lara B., Lladó A., Escobar-Bravo MA., Reivan-Ortiz GG., Maxi-Maxi EA., Martínez-Suárez PC., Ramírez-Coronel AA., and Piñol-Ripoll G.
- Subjects
Alzheimer’s disease ,Dementia ,Ecuador ,Knowledge ,DKAS ,Spain ,Geriatrics ,RC952-954.6 - Abstract
Abstract Introduction Alzheimer’s disease (AD) is the most frequent cause of cognitive impairment. Improving knowledge of dementia management through health education for health professionals can improve clinical and community care in home and specialist settings. It is important to guarantee good dementia knowledge in health students, and it is necessary to evaluate it with a good standardized tool. The aim of the current study was to assess the psychometric properties of the DKAS-S with cohorts of Ecuadorian health students, to compare these results with a former validation in Spanish health students and to analyse the level of knowledge according to different variables. Methods We performed a cross-sectional study to assess the validity, reliability and feasibility of the DKAS-S by comparing two different cohorts of health students (nursing and psychologists). Results A total of 659 students from Spain (n = 233) and Ecuador (n = 426) completed the DKAS-S (mean age 24.02 (6.35) years old), and 52.80% were nursing students. The DKAS-S showed good internal consistency in the Ecuadorian cohort (Cronbach’s α = 0.76). No significant difference was found between Spanish and Ecuadorian students (p = 0.767) in the global scale score, but there were differences in some subscales. Psychologist students scored significantly higher on the global scale than nursing students (32.08 (9.51) vs. 27.49 (7.15); p
- Published
- 2023
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3. Evolution of the consumption trend of proton pump inhibitors in the Lleida Health Region between 2002 and 2015
- Author
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Torres-Bondia, F., de Batlle, J., Galván, L., Buti, M., Barbé, F., and Piñol-Ripoll, G.
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- 2022
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4. Author Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores (Nature Communications, (2021), 12, 1, (3417), 10.1038/s41467-021-22491-8)
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de Rojas I., de Rojas, I, Moreno-Grau, S, Tesi, N, Grenier-Boley, B, Andrade, V, Jansen, I, Pedersen, N, Stringa, N, Zettergren, A, Hernandez, I, Montrreal, L, Antunez, C, Antonell, A, Tankard, R, Bis, J, Sims, R, Bellenguez, C, Quintela, I, Gonzalez-Perez, A, Calero, M, Franco-Macias, E, Macias, J, Blesa, R, Cervera-Carles, L, Menendez-Gonzalez, M, Frank-Garcia, A, Royo, J, Moreno, F, Huerto Vilas, R, Baquero, M, Diez-Fairen, M, Lage, C, Garcia-Madrona, S, Garcia-Gonzalez, P, Alarcon-Martin, E, Valero, S, Sotolongo-Grau, O, Ullgren, A, Naj, A, Lemstra, A, Benaque, A, Perez-Cordon, A, Benussi, A, Rabano, A, Padovani, A, Squassina, A, de Mendonca, A, Arias Pastor, A, Kok, A, Meggy, A, Pastor, A, Espinosa, A, Corma-Gomez, A, Martin Montes, A, Sanabria, A, Destefano, A, Schneider, A, Haapasalo, A, Kinhult Stahlbom, A, Tybjaerg-Hansen, A, Hartmann, A, Spottke, A, Corbaton-Anchuelo, A, Rongve, A, Borroni, B, Arosio, B, Nacmias, B, Nordestgaard, B, Kunkle, B, Charbonnier, C, Abdelnour, C, Masullo, C, Martinez Rodriguez, C, Munoz-Fernandez, C, Dufouil, C, Graff, C, Ferreira, C, Chillotti, C, Reynolds, C, Fenoglio, C, Van Broeckhoven, C, Clark, C, Pisanu, C, Satizabal, C, Holmes, C, Buiza-Rueda, D, Aarsland, D, Rujescu, D, Alcolea, D, Galimberti, D, Wallon, D, Seripa, D, Grunblatt, E, Dardiotis, E, Duzel, E, Scarpini, E, Conti, E, Rubino, E, Gelpi, E, Rodriguez-Rodriguez, E, Duron, E, Boerwinkle, E, Ferri, E, Tagliavini, F, Kucukali, F, Pasquier, F, Sanchez-Garcia, F, Mangialasche, F, Jessen, F, Nicolas, G, Selbaek, G, Ortega, G, Chene, G, Hadjigeorgiou, G, Rossi, G, Spalletta, G, Giaccone, G, Grande, G, Binetti, G, Papenberg, G, Hampel, H, Bailly, H, Zetterberg, H, Soininen, H, Karlsson, I, Alvarez, I, Appollonio, I, Giegling, I, Skoog, I, Saltvedt, I, Rainero, I, Rosas Allende, I, Hort, J, Diehl-Schmid, J, Van Dongen, J, Vidal, J, Lehtisalo, J, Wiltfang, J, Thomassen, J, Kornhuber, J, Haines, J, Vogelgsang, J, Pineda, J, Fortea, J, Popp, J, Deckert, J, Buerger, K, Morgan, K, Fliessbach, K, Sleegers, K, Molina-Porcel, L, Kilander, L, Weinhold, L, Farrer, L, Wang, L, Kleineidam, L, Farotti, L, Parnetti, L, Tremolizzo, L, Hausner, L, Benussi, L, Froelich, L, Ikram, M, Deniz-Naranjo, M, Tsolaki, M, Rosende-Roca, M, Lowenmark, M, Hulsman, M, Spallazzi, M, Pericak-Vance, M, Esiri, M, Bernal Sanchez-Arjona, M, Dalmasso, M, Martinez-Larrad, M, Arcaro, M, Nothen, M, Fernandez-Fuertes, M, Dichgans, M, Ingelsson, M, Herrmann, M, Scherer, M, Vyhnalek, M, Kosmidis, M, Yannakoulia, M, Schmid, M, Ewers, M, Heneka, M, Wagner, M, Scamosci, M, Kivipelto, M, Hiltunen, M, Zulaica, M, Alegret, M, Fornage, M, Roberto, N, van Schoor, N, Seidu, N, Banaj, N, Armstrong, N, Scarmeas, N, Scherbaum, N, Goldhardt, O, Hanon, O, Peters, O, Skrobot, O, Quenez, O, Lerch, O, Bossu, P, Caffarra, P, Dionigi Rossi, P, Sakka, P, Mecocci, P, Hoffmann, P, Holmans, P, Fischer, P, Riederer, P, Yang, Q, Marshall, R, Kalaria, R, Mayeux, R, Vandenberghe, R, Cecchetti, R, Ghidoni, R, Frikke-Schmidt, R, Sorbi, S, Hagg, S, Engelborghs, S, Helisalmi, S, Botne Sando, S, Kern, S, Archetti, S, Boschi, S, Fostinelli, S, Gil, S, Mendoza, S, Mead, S, Ciccone, S, Djurovic, S, Heilmann-Heimbach, S, Riedel-Heller, S, Kuulasmaa, T, del Ser, T, Lebouvier, T, Polak, T, Ngandu, T, Grimmer, T, Bessi, V, Escott-Price, V, Giedraitis, V, Deramecourt, V, Maier, W, Jian, X, Pijnenburg, Y, Smith, A, Saenz, A, Bizzarro, A, Lauria, A, Vacca, A, Solomon, A, Anastasiou, A, Richardson, A, Boland, A, Koivisto, A, Daniele, A, Greco, A, Marianthi, A, Mcguinness, B, Fin, B, Ferrari, C, Custodero, C, Ferrarese, C, Ingino, C, Mangone, C, Reyes Toso, C, Martinez, C, Cuesta, C, Muchnik, C, Joachim, C, Ortiz, C, Besse, C, Johansson, C, Zoia, C, Laske, C, Anastasiou, C, Palacio, D, Politis, D, Janowitz, D, Craig, D, Mann, D, Neary, D, Jurgen, D, Daian, D, Belezhanska, D, Kohler, E, Castano, E, Koutsouraki, E, Chipi, E, De Roeck, E, Costantini, E, Vardy, E, Piras, F, Roveta, F, Prestia, F, Assogna, F, Salani, F, Sala, G, Lacidogna, G, Novack, G, Wilcock, G, Thonberg, H, Kolsch, H, Weber, H, Boecker, H, Etchepareborda, I, Piaceri, I, Tuomilehto, J, Lindstrom, J, Laczo, J, Johnston, J, Deleuze, J, Harris, J, Schott, J, Priller, J, Bacha, J, Snowden, J, Lisso, J, Mihova, K, Traykov, L, Morelli, L, Brusco, L, Rainer, M, Takalo, M, Bjerke, M, Del Zompo, M, Serpente, M, Sanchez Abalos, M, Rios, M, Peltonen, M, Herrman, M, Kohler, M, Rojo, M, Jones, M, Orsini, M, Medel, N, Olivar, N, Fox, N, Salvadori, N, Hooper, N, Galeano, P, Solis, P, Bastiani, P, Passmore, P, Heun, R, Antikainen, R, Olaso, R, Perneczky, R, Germani, S, Lopez-Garcia, S, Love, S, Mehrabian, S, Bagnoli, S, Kochen, S, Andreoni, S, Teipel, S, Todd, S, Pickering-Brown, S, Natunen, T, Tegos, T, Laatikainen, T, Strandberg, T, Polvikoski, T, Matoska, V, Ciullo, V, Cores, V, Solfrizzi, V, Lisetti, V, Sevillano, Z, Aguilera, N, Alarcon, E, Boada, M, Buendia, M, Canabate, P, Carracedo, A, Diego, S, Gailhajenet, A, Guitart, M, Ibarria, M, Lafuente, A, Maronas, O, Martin, E, Martinez, M, Marquie, M, Mauleon, A, Moreno, M, Orellana, A, Pancho, A, Peleja, E, Preckler, S, Real, L, Ruiz, A, Saez, M, Serrano-Rios, M, Tarraga, L, Vargas, L, Adarmes-Gomez, A, Alonso, M, Alvarez, V, Amer-Ferrer, G, Antequera, M, Bernal, M, Bullido, M, Burguera, J, Carrillo, F, Carrion-Claro, M, Casajeros, M, Clarimon, J, Cruz-Gamero, J, de Pancorbo, M, Escuela, R, Garrote-Espina, L, Garcia-Alberca, J, Garcia Madrona, S, Garcia-Ribas, G, Gomez-Garre, P, Hevilla, S, Jesus, S, Labrador Espinosa, M, Legaz, A, Lleo, A, Lopez de Munain, A, Macias-Garcia, D, Manzanares, S, Marin, M, Marin-Munoz, J, Marin, T, Martinez, B, Martinez, V, Martinez-Lage Alvarez, P, Medina, M, Mendioroz Iriarte, M, Mir, P, Molinuevo, J, Pastor, P, Perez Tur, J, Perinan-Tocino, T, Pineda-Sanchez, R, Pinol-Ripoll, G, Real de Asua, D, Rodrigo, S, Sanchez del Valle Diaz, R, Sanchez-Juan, P, Sastre, I, Vicente, M, Vigo-Ortega, R, Vivancos, L, Macleod, C, Mccracken, C, Brayne, C, Bresner, C, Grozeva, D, Bellou, E, Sommerville, E, Matthews, F, Leonenko, G, Menzies, G, Windle, G, Harwood, J, Phillips, J, Bennett, K, Luckuck, L, Clare, L, Woods, R, Saad, S, Burholt, V, Kehoe, P, Scheltens, P, Holstege, H, Amouyel, P, Schellenberg, G, Williams, J, Seshadri, S, van Duijn, C, Mather, K, Sanchez-Valle, R, Blennow, K, Huisman, M, Andreassen, O, Posthuma, D, van der Flier, W, Ramirez, A, Lambert, J, van der Lee, S, de Rojas I., Moreno-Grau S., Tesi N., Grenier-Boley B., Andrade V., Jansen I. E., Pedersen N. L., Stringa N., Zettergren A., Hernandez I., Montrreal L., Antunez C., Antonell A., Tankard R. M., Bis J. C., Sims R., Bellenguez C., Quintela I., Gonzalez-Perez A., Calero M., Franco-Macias E., Macias J., Blesa R., Cervera-Carles L., Menendez-Gonzalez M., Frank-Garcia A., Royo J. L., Moreno F., Huerto Vilas R., Baquero M., Diez-Fairen M., Lage C., Garcia-Madrona S., Garcia-Gonzalez P., Alarcon-Martin E., Valero S., Sotolongo-Grau O., Ullgren A., Naj A. C., Lemstra A. W., Benaque A., Perez-Cordon A., Benussi A., Rabano A., Padovani A., Squassina A., de Mendonca A., Arias Pastor A., Kok A. A. L., Meggy A., Pastor A. B., Espinosa A., Corma-Gomez A., Martin Montes A., Sanabria A., DeStefano A. L., Schneider A., Haapasalo A., Kinhult Stahlbom A., Tybjaerg-Hansen A., Hartmann A. M., Spottke A., Corbaton-Anchuelo A., Rongve A., Borroni B., Arosio B., Nacmias B., Nordestgaard B. G., Kunkle B. W., Charbonnier C., Abdelnour C., Masullo C., Martinez Rodriguez C., Munoz-Fernandez C., Dufouil C., Graff C., Ferreira C. B., Chillotti C., Reynolds C. A., Fenoglio C., Van Broeckhoven C., Clark C., Pisanu C., Satizabal C. L., Holmes C., Buiza-Rueda D., Aarsland D., Rujescu D., Alcolea D., Galimberti D., Wallon D., Seripa D., Grunblatt E., Dardiotis E., Duzel E., Scarpini E., Conti E., Rubino E., Gelpi E., Rodriguez-Rodriguez E., Duron E., Boerwinkle E., Ferri E., Tagliavini F., Kucukali F., Pasquier F., Sanchez-Garcia F., Mangialasche F., Jessen F., Nicolas G., Selbaek G., Ortega G., Chene G., Hadjigeorgiou G., Rossi G., Spalletta G., Giaccone G., Grande G., Binetti G., Papenberg G., Hampel H., Bailly H., Zetterberg H., Soininen H., Karlsson I. K., Alvarez I., Appollonio I., Giegling I., Skoog I., Saltvedt I., Rainero I., Rosas Allende I., Hort J., Diehl-Schmid J., Van Dongen J., Vidal J. -S., Lehtisalo J., Wiltfang J., Thomassen J. Q., Kornhuber J., Haines J. L., Vogelgsang J., Pineda J. A., Fortea J., Popp J., Deckert J., Buerger K., Morgan K., Fliessbach K., Sleegers K., Molina-Porcel L., Kilander L., Weinhold L., Farrer L. A., Wang L. -S., Kleineidam L., Farotti L., Parnetti L., Tremolizzo L., Hausner L., Benussi L., Froelich L., Ikram M. A., Deniz-Naranjo M. C., Tsolaki M., Rosende-Roca M., Lowenmark M., Hulsman M., Spallazzi M., Pericak-Vance M. A., Esiri M., Bernal Sanchez-Arjona M., Dalmasso M. C., Martinez-Larrad M. T., Arcaro M., Nothen M. M., Fernandez-Fuertes M., Dichgans M., Ingelsson M., Herrmann M. J., Scherer M., Vyhnalek M., Kosmidis M. H., Yannakoulia M., Schmid M., Ewers M., Heneka M. T., Wagner M., Scamosci M., Kivipelto M., Hiltunen M., Zulaica M., Alegret M., Fornage M., Roberto N., van Schoor N. M., Seidu N. M., Banaj N., Armstrong N. J., Scarmeas N., Scherbaum N., Goldhardt O., Hanon O., Peters O., Skrobot O. A., Quenez O., Lerch O., Bossu P., Caffarra P., Dionigi Rossi P., Sakka P., Mecocci P., Hoffmann P., Holmans P. A., Fischer P., Riederer P., Yang Q., Marshall R., Kalaria R. N., Mayeux R., Vandenberghe R., Cecchetti R., Ghidoni R., Frikke-Schmidt R., Sorbi S., Hagg S., Engelborghs S., Helisalmi S., Botne Sando S., Kern S., Archetti S., Boschi S., Fostinelli S., Gil S., Mendoza S., Mead S., Ciccone S., Djurovic S., Heilmann-Heimbach S., Riedel-Heller S., Kuulasmaa T., del Ser T., Lebouvier T., Polak T., Ngandu T., Grimmer T., Bessi V., Escott-Price V., Giedraitis V., Deramecourt V., Maier W., Jian X., Pijnenburg Y. A. L., Smith A. D., Saenz A., Bizzarro A., Lauria A., Vacca A., Solomon A., Anastasiou A., Richardson A., Boland A., Koivisto A., Daniele A., Greco A., Marianthi A., McGuinness B., Fin B., Ferrari C., Custodero C., Ferrarese C., Ingino C., Mangone C., Reyes Toso C., Martinez C., Cuesta C., Muchnik C., Joachim C., Ortiz C., Besse C., Johansson C., Zoia C. P., Laske C., Anastasiou C., Palacio D. L., Politis D. G., Janowitz D., Craig D., Mann D. M., Neary D., Jurgen D., Daian D., Belezhanska D., Kohler E., Castano E. M., Koutsouraki E., Chipi E., De Roeck E., Costantini E., Vardy E. R. L. C., Piras F., Roveta F., Prestia F. A., Assogna F., Salani F., Sala G., Lacidogna G., Novack G., Wilcock G., Thonberg H., Kolsch H., Weber H., Boecker H., Etchepareborda I., Piaceri I., Tuomilehto J., Lindstrom J., Laczo J., Johnston J., Deleuze J. -F., Harris J., Schott J. M., Priller J., Bacha J. I., Snowden J., Lisso J., Mihova K. Y., Traykov L., Morelli L., Brusco L. I., Rainer M., Takalo M., Bjerke M., Del Zompo M., Serpente M., Sanchez Abalos M., Rios M., Peltonen M., Herrman M. J., Kohler M., Rojo M., Jones M., Orsini M., Medel N., Olivar N., Fox N. C., Salvadori N., Hooper N. M., Galeano P., Solis P., Bastiani P., Passmore P., Heun R., Antikainen R., Olaso R., Perneczky R., Germani S., Lopez-Garcia S., Love S., Mehrabian S., Bagnoli S., Kochen S., Andreoni S., Teipel S., Todd S., Pickering-Brown S., Natunen T., Tegos T., Laatikainen T., Strandberg T., Polvikoski T. M., Matoska V., Ciullo V., Cores V., Solfrizzi V., Lisetti V., Sevillano Z., Aguilera N., Alarcon E., Boada M., Buendia M., Canabate P., Carracedo A., Diego S., Gailhajenet A., Guitart M., Ibarria M., Lafuente A., Maronas O., Martin E., Martinez M. T., Marquie M., Mauleon A., Moreno M., Orellana A., Pancho A., Peleja E., Preckler S., Real L. M., Ruiz A., Saez M. E., Serrano-Rios M., Tarraga L., Vargas L., Adarmes-Gomez A. D., Alonso M. D., Alvarez V., Amer-Ferrer G., Antequera M., Bernal M., Bullido M. J., Burguera J. A., Carrillo F., Carrion-Claro M., Casajeros M. J., Clarimon J., Cruz-Gamero J. M., de Pancorbo M. M., Escuela R., Garrote-Espina L., Garcia-Alberca J. M., Garcia Madrona S., Garcia-Ribas G., Gomez-Garre P., Hevilla S., Jesus S., Labrador Espinosa M. A., Legaz A., Lleo A., Lopez de Munain A., Macias-Garcia D., Manzanares S., Marin M., Marin-Munoz J., Marin T., Martinez B., Martinez V., Martinez-Lage Alvarez P., Medina M., Mendioroz Iriarte M., Mir P., Molinuevo J. L., Pastor P., Perez Tur J., Perinan-Tocino T., Pineda-Sanchez R., Pinol-Ripoll G., Real de Asua D., Rodrigo S., Sanchez del Valle Diaz R., Sanchez-Juan P., Sastre I., Vicente M. P., Vigo-Ortega R., Vivancos L., Macleod C., McCracken C., Brayne C., Bresner C., Grozeva D., Bellou E., Sommerville E. W., Matthews F., Leonenko G., Menzies G., Windle G., Harwood J., Phillips J., Bennett K., Luckuck L., Clare L., Woods R., Saad S., Burholt V., Kehoe P. G., Scheltens P., Holstege H., Amouyel P., Schellenberg G. D., Williams J., Seshadri S., van Duijn C. M., Mather K. A., Sanchez-Valle R., Blennow K., Huisman M., Andreassen O. A., Posthuma D., van der Flier W. M., Ramirez A., Lambert J. -C., van der Lee S. J., de Rojas I., de Rojas, I, Moreno-Grau, S, Tesi, N, Grenier-Boley, B, Andrade, V, Jansen, I, Pedersen, N, Stringa, N, Zettergren, A, Hernandez, I, Montrreal, L, Antunez, C, Antonell, A, Tankard, R, Bis, J, Sims, R, Bellenguez, C, Quintela, I, Gonzalez-Perez, A, Calero, M, Franco-Macias, E, Macias, J, Blesa, R, Cervera-Carles, L, Menendez-Gonzalez, M, Frank-Garcia, A, Royo, J, Moreno, F, Huerto Vilas, R, Baquero, M, Diez-Fairen, M, Lage, C, Garcia-Madrona, S, Garcia-Gonzalez, P, Alarcon-Martin, E, Valero, S, Sotolongo-Grau, O, Ullgren, A, Naj, A, Lemstra, A, Benaque, A, Perez-Cordon, A, Benussi, A, Rabano, A, Padovani, A, Squassina, A, de Mendonca, A, Arias Pastor, A, Kok, A, Meggy, A, Pastor, A, Espinosa, A, Corma-Gomez, A, Martin Montes, A, Sanabria, A, Destefano, A, Schneider, A, Haapasalo, A, Kinhult Stahlbom, A, Tybjaerg-Hansen, A, Hartmann, A, Spottke, A, Corbaton-Anchuelo, A, Rongve, A, Borroni, B, Arosio, B, Nacmias, B, Nordestgaard, B, Kunkle, B, Charbonnier, C, Abdelnour, C, Masullo, C, Martinez Rodriguez, C, Munoz-Fernandez, C, Dufouil, C, Graff, C, Ferreira, C, Chillotti, C, Reynolds, C, Fenoglio, C, Van Broeckhoven, C, Clark, C, Pisanu, C, Satizabal, C, Holmes, C, Buiza-Rueda, D, Aarsland, D, Rujescu, D, Alcolea, D, Galimberti, D, Wallon, D, Seripa, D, Grunblatt, E, Dardiotis, E, Duzel, E, Scarpini, E, Conti, E, Rubino, E, Gelpi, E, Rodriguez-Rodriguez, E, Duron, E, Boerwinkle, E, Ferri, E, Tagliavini, F, Kucukali, F, Pasquier, F, Sanchez-Garcia, F, Mangialasche, F, Jessen, F, Nicolas, G, Selbaek, G, Ortega, G, Chene, G, Hadjigeorgiou, G, Rossi, G, Spalletta, G, Giaccone, G, Grande, G, Binetti, G, Papenberg, G, Hampel, H, Bailly, H, Zetterberg, H, Soininen, H, Karlsson, I, Alvarez, I, Appollonio, I, Giegling, I, Skoog, I, Saltvedt, I, Rainero, I, Rosas Allende, I, Hort, J, Diehl-Schmid, J, Van Dongen, J, Vidal, J, Lehtisalo, J, Wiltfang, J, Thomassen, J, Kornhuber, J, Haines, J, Vogelgsang, J, Pineda, J, Fortea, J, Popp, J, Deckert, J, Buerger, K, Morgan, K, Fliessbach, K, Sleegers, K, Molina-Porcel, L, Kilander, L, Weinhold, L, Farrer, L, Wang, L, Kleineidam, L, Farotti, L, Parnetti, L, Tremolizzo, L, Hausner, L, Benussi, L, Froelich, L, Ikram, M, Deniz-Naranjo, M, Tsolaki, M, Rosende-Roca, M, Lowenmark, M, Hulsman, M, Spallazzi, M, Pericak-Vance, M, Esiri, M, Bernal Sanchez-Arjona, M, Dalmasso, M, Martinez-Larrad, M, Arcaro, M, Nothen, M, Fernandez-Fuertes, M, Dichgans, M, Ingelsson, M, Herrmann, M, Scherer, M, Vyhnalek, M, Kosmidis, M, Yannakoulia, M, Schmid, M, Ewers, M, Heneka, M, Wagner, M, Scamosci, M, Kivipelto, M, Hiltunen, M, Zulaica, M, Alegret, M, Fornage, M, Roberto, N, van Schoor, N, Seidu, N, Banaj, N, Armstrong, N, Scarmeas, N, Scherbaum, N, Goldhardt, O, Hanon, O, Peters, O, Skrobot, O, Quenez, O, Lerch, O, Bossu, P, Caffarra, P, Dionigi Rossi, P, Sakka, P, Mecocci, P, Hoffmann, P, Holmans, P, Fischer, P, Riederer, P, Yang, Q, Marshall, R, Kalaria, R, Mayeux, R, Vandenberghe, R, Cecchetti, R, Ghidoni, R, Frikke-Schmidt, R, Sorbi, S, Hagg, S, Engelborghs, S, Helisalmi, S, Botne Sando, S, Kern, S, Archetti, S, Boschi, S, Fostinelli, S, Gil, S, Mendoza, S, Mead, S, Ciccone, S, Djurovic, S, Heilmann-Heimbach, S, Riedel-Heller, S, Kuulasmaa, T, del Ser, T, Lebouvier, T, Polak, T, Ngandu, T, Grimmer, T, Bessi, V, Escott-Price, V, Giedraitis, V, Deramecourt, V, Maier, W, Jian, X, Pijnenburg, Y, Smith, A, Saenz, A, Bizzarro, A, Lauria, A, Vacca, A, Solomon, A, Anastasiou, A, Richardson, A, Boland, A, Koivisto, A, Daniele, A, Greco, A, Marianthi, A, Mcguinness, B, Fin, B, Ferrari, C, Custodero, C, Ferrarese, C, Ingino, C, Mangone, C, Reyes Toso, C, Martinez, C, Cuesta, C, Muchnik, C, Joachim, C, Ortiz, C, Besse, C, Johansson, C, Zoia, C, Laske, C, Anastasiou, C, Palacio, D, Politis, D, Janowitz, D, Craig, D, Mann, D, Neary, D, Jurgen, D, Daian, D, Belezhanska, D, Kohler, E, Castano, E, Koutsouraki, E, Chipi, E, De Roeck, E, Costantini, E, Vardy, E, Piras, F, Roveta, F, Prestia, F, Assogna, F, 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Ibarria, M, Lafuente, A, Maronas, O, Martin, E, Martinez, M, Marquie, M, Mauleon, A, Moreno, M, Orellana, A, Pancho, A, Peleja, E, Preckler, S, Real, L, Ruiz, A, Saez, M, Serrano-Rios, M, Tarraga, L, Vargas, L, Adarmes-Gomez, A, Alonso, M, Alvarez, V, Amer-Ferrer, G, Antequera, M, Bernal, M, Bullido, M, Burguera, J, Carrillo, F, Carrion-Claro, M, Casajeros, M, Clarimon, J, Cruz-Gamero, J, de Pancorbo, M, Escuela, R, Garrote-Espina, L, Garcia-Alberca, J, Garcia Madrona, S, Garcia-Ribas, G, Gomez-Garre, P, Hevilla, S, Jesus, S, Labrador Espinosa, M, Legaz, A, Lleo, A, Lopez de Munain, A, Macias-Garcia, D, Manzanares, S, Marin, M, Marin-Munoz, J, Marin, T, Martinez, B, Martinez, V, Martinez-Lage Alvarez, P, Medina, M, Mendioroz Iriarte, M, Mir, P, Molinuevo, J, Pastor, P, Perez Tur, J, Perinan-Tocino, T, Pineda-Sanchez, R, Pinol-Ripoll, G, Real de Asua, D, Rodrigo, S, Sanchez del Valle Diaz, R, Sanchez-Juan, P, Sastre, I, Vicente, M, Vigo-Ortega, R, Vivancos, L, Macleod, C, Mccracken, C, Brayne, C, Bresner, C, Grozeva, D, Bellou, E, Sommerville, E, Matthews, F, Leonenko, G, Menzies, G, Windle, G, Harwood, J, Phillips, J, Bennett, K, Luckuck, L, Clare, L, Woods, R, Saad, S, Burholt, V, Kehoe, P, Scheltens, P, Holstege, H, Amouyel, P, Schellenberg, G, Williams, J, Seshadri, S, van Duijn, C, Mather, K, Sanchez-Valle, R, Blennow, K, Huisman, M, Andreassen, O, Posthuma, D, van der Flier, W, Ramirez, A, Lambert, J, van der Lee, S, de Rojas I., Moreno-Grau S., Tesi N., Grenier-Boley B., Andrade V., Jansen I. E., Pedersen N. L., Stringa N., Zettergren A., Hernandez I., Montrreal L., Antunez C., Antonell A., Tankard R. M., Bis J. C., Sims R., Bellenguez C., Quintela I., Gonzalez-Perez A., Calero M., Franco-Macias E., Macias J., Blesa R., Cervera-Carles L., Menendez-Gonzalez M., Frank-Garcia A., Royo J. L., Moreno F., Huerto Vilas R., Baquero M., Diez-Fairen M., Lage C., Garcia-Madrona S., Garcia-Gonzalez P., Alarcon-Martin E., Valero S., Sotolongo-Grau O., Ullgren A., Naj A. C., Lemstra A. W., Benaque A., Perez-Cordon A., Benussi A., Rabano A., Padovani A., Squassina A., de Mendonca A., Arias Pastor A., Kok A. A. L., Meggy A., Pastor A. B., Espinosa A., Corma-Gomez A., Martin Montes A., Sanabria A., DeStefano A. L., Schneider A., Haapasalo A., Kinhult Stahlbom A., Tybjaerg-Hansen A., Hartmann A. M., Spottke A., Corbaton-Anchuelo A., Rongve A., Borroni B., Arosio B., Nacmias B., Nordestgaard B. G., Kunkle B. W., Charbonnier C., Abdelnour C., Masullo C., Martinez Rodriguez C., Munoz-Fernandez C., Dufouil C., Graff C., Ferreira C. B., Chillotti C., Reynolds C. A., Fenoglio C., Van Broeckhoven C., Clark C., Pisanu C., Satizabal C. L., Holmes C., Buiza-Rueda D., Aarsland D., Rujescu D., Alcolea D., Galimberti D., Wallon D., Seripa D., Grunblatt E., Dardiotis E., Duzel E., Scarpini E., Conti E., Rubino E., Gelpi E., Rodriguez-Rodriguez E., Duron E., Boerwinkle E., Ferri E., Tagliavini F., Kucukali F., Pasquier F., Sanchez-Garcia F., Mangialasche F., Jessen F., Nicolas G., Selbaek G., Ortega G., Chene G., Hadjigeorgiou G., Rossi G., Spalletta G., Giaccone G., Grande G., Binetti G., Papenberg G., Hampel H., Bailly H., Zetterberg H., Soininen H., Karlsson I. K., Alvarez I., Appollonio I., Giegling I., Skoog I., Saltvedt I., Rainero I., Rosas Allende I., Hort J., Diehl-Schmid J., Van Dongen J., Vidal J. -S., Lehtisalo J., Wiltfang J., Thomassen J. Q., Kornhuber J., Haines J. L., Vogelgsang J., Pineda J. A., Fortea J., Popp J., Deckert J., Buerger K., Morgan K., Fliessbach K., Sleegers K., Molina-Porcel L., Kilander L., Weinhold L., Farrer L. A., Wang L. -S., Kleineidam L., Farotti L., Parnetti L., Tremolizzo L., Hausner L., Benussi L., Froelich L., Ikram M. A., Deniz-Naranjo M. C., Tsolaki M., Rosende-Roca M., Lowenmark M., Hulsman M., Spallazzi M., Pericak-Vance M. A., Esiri M., Bernal Sanchez-Arjona M., Dalmasso M. C., Martinez-Larrad M. T., Arcaro M., Nothen M. M., Fernandez-Fuertes M., Dichgans M., Ingelsson M., Herrmann M. J., Scherer M., Vyhnalek M., Kosmidis M. H., Yannakoulia M., Schmid M., Ewers M., Heneka M. T., Wagner M., Scamosci M., Kivipelto M., Hiltunen M., Zulaica M., Alegret M., Fornage M., Roberto N., van Schoor N. M., Seidu N. M., Banaj N., Armstrong N. J., Scarmeas N., Scherbaum N., Goldhardt O., Hanon O., Peters O., Skrobot O. A., Quenez O., Lerch O., Bossu P., Caffarra P., Dionigi Rossi P., Sakka P., Mecocci P., Hoffmann P., Holmans P. A., Fischer P., Riederer P., Yang Q., Marshall R., Kalaria R. N., Mayeux R., Vandenberghe R., Cecchetti R., Ghidoni R., Frikke-Schmidt R., Sorbi S., Hagg S., Engelborghs S., Helisalmi S., Botne Sando S., Kern S., Archetti S., Boschi S., Fostinelli S., Gil S., Mendoza S., Mead S., Ciccone S., Djurovic S., Heilmann-Heimbach S., Riedel-Heller S., Kuulasmaa T., del Ser T., Lebouvier T., Polak T., Ngandu T., Grimmer T., Bessi V., Escott-Price V., Giedraitis V., Deramecourt V., Maier W., Jian X., Pijnenburg Y. A. L., Smith A. D., Saenz A., Bizzarro A., Lauria A., Vacca A., Solomon A., Anastasiou A., Richardson A., Boland A., Koivisto A., Daniele A., Greco A., Marianthi A., McGuinness B., Fin B., Ferrari C., Custodero C., Ferrarese C., Ingino C., Mangone C., Reyes Toso C., Martinez C., Cuesta C., Muchnik C., Joachim C., Ortiz C., Besse C., Johansson C., Zoia C. P., Laske C., Anastasiou C., Palacio D. L., Politis D. G., Janowitz D., Craig D., Mann D. M., Neary D., Jurgen D., Daian D., Belezhanska D., Kohler E., Castano E. M., Koutsouraki E., Chipi E., De Roeck E., Costantini E., Vardy E. R. L. C., Piras F., Roveta F., Prestia F. A., Assogna F., Salani F., Sala G., Lacidogna G., Novack G., Wilcock G., Thonberg H., Kolsch H., Weber H., Boecker H., Etchepareborda I., Piaceri I., Tuomilehto J., Lindstrom J., Laczo J., Johnston J., Deleuze J. -F., Harris J., Schott J. M., Priller J., Bacha J. I., Snowden J., Lisso J., Mihova K. Y., Traykov L., Morelli L., Brusco L. I., Rainer M., Takalo M., Bjerke M., Del Zompo M., Serpente M., Sanchez Abalos M., Rios M., Peltonen M., Herrman M. J., Kohler M., Rojo M., Jones M., Orsini M., Medel N., Olivar N., Fox N. C., Salvadori N., Hooper N. 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M., Ramirez A., Lambert J. -C., and van der Lee S. J.
- Abstract
The original version of this Article omitted from the author list the 212th author Patrizia Mecocci, who is from the Institute of Gerontology and Geriatrics, Department of Medicine, University of Perugia, Perugia, Italy. Consequently, the “Sample Contribution” section of Author Contributions was updated to add “P.M” between “P.D.” and “R.C.”. Additionally, the original version of this Article contained the incorrect affiliation for author Patrick Gavin Kehoe, which incorrectly read “German Center for Neurodegenerative Diseases (DZNE), Berlin, Germany”. The correct version replaces this affiliation with “Bristol Medical School (THS), University of Bristol, Southmead Hospital, Bristol, UK”. This has been corrected in both the PDF and HTML versions of the Article.
- Published
- 2023
5. Spanish-dementia knowledge assessment scale (DKAS-S): psychometric properties and validation
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Carnes, A., Barallat-Gimeno, E., Galvan, A., Lara, B., Lladó, A., Contador-Muñana, J., Vega-Rodriguez, A., Escobar, M. A., and Piñol-Ripoll, G.
- Published
- 2021
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6. Poor sleep quality may trigger cognitive deficits after recovery from COVID-19.
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Carnes-Vendrell, A., Piñol-Ripoll, G., Ariza, M., Cano, N., Segura, B., Junque, C., Béjar, J., Barrue, C., and Garolera, M.
- Subjects
SLEEP quality ,SLEEP interruptions ,MEMORY disorders ,SHORT-term memory ,VERBAL memory ,VISUAL memory ,SLEEP - Abstract
Objective: In the present study, we aimed to assess the cognition of post-COVID-19 condition (PCC) participants in relation to their subjective sleep quality (Pittsburgh Sleep Quality Index, PSQI) and to analyse possible moderators of this effect, such as quality of life (European Quality of Life-5 Dimensions, EQ-5D), fatigue (Chadler Fatigue Questionnaire, CFQ), cognitive reserve (Cognitive Reserve Questionnaire, CRC), and subjective cognitive complaints (Memory Failures of Everyday Questionnaire, MFE-30). Methods: We included 373 individuals with PCC and 126 healthy controls (HCs) from the NAUTILUS Project (NCT05307549 and NCT05307575) who were assessed with a comprehensive neuropsychological battery and various questionnaires. Results: We found that PCC participants with poor sleep quality had a 4.3% greater risk of immediate verbal memory deficits than those with good sleep quality, as indicated by the greater odds ratio (OR) of 1.043 and confidence interval (CI) of 1.023-1.063. Additionally, their risk of immediate verbal memory disorders was multiplied by 2.4 when their EQ-5D score was low (OR 0.33; CI 0.145-0.748), and they had a lower risk of delayed visual memory deficits with a greater CRC (OR 0.963; CI 0.929-0.999). With respect to processing speed, PCC participants with poor sleep quality had a 6.7% greater risk of deficits as the MFE increased (OR 1.059; CI 1.024-1.096), and the risk of slowed processing speed tripled with a lower EQ-5D (OR 0.021; CI 0.003-0.141). Conclusion: These results indicate that poor subjective sleep quality is a potential trigger for cognitive deficits. Therapeutic strategies to maximize sleep quality could include reducing sleep disturbances and perhaps cognitive impairment in PCC individuals. [ABSTRACT FROM AUTHOR]
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- 2024
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7. New insights into the genetic etiology of Alzheimer's disease and related dementias
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Bellenguez, C., Küçükali, F., Jansen, I. E., Kleineidam, L., Moreno-Grau, S., Amin, N., Naj, A. C., Campos-Martin, R., Grenier-Boley, B., Andrade, V., Holmans, P. A., Boland, A., Damotte, V., van der Lee, S. J., Costa, M. R., Kuulasmaa, T., Yang, Q., de Rojas, I., Bis, J. C., Yaqub, A., Prokic, I., Chapuis, J., Ahmad, S., Giedraitis, V., Aarsland, D., Garcia-Gonzalez, P., Abdelnour, C., Alarcón-Martín, E., Alcolea, D., Alegret, M., Alvarez, I., Álvarez, V., Armstrong, N. J., Tsolaki, A., Antúnez, C., Appollonio, I., Arcaro, M., Archetti, S., Pastor, A. A., Arosio, B., Athanasiu, L., Bailly, H., Banaj, N., Baquero, M., Barral, S., Beiser, A., Pastor, A. B., Below, J. E., Benchek, P., Benussi, L., Berr, C., Besse, C., Bessi, V., Binetti, G., Bizarro, A., Blesa, R., Boada, M., Boerwinkle, E., Borroni, B., Boschi, S., Bossù, P., Bråthen, G., Bressler, J., Bresner, C., Brodaty, H., Brookes, K. J., Brusco, L. I., Buiza-Rueda, D., Bûrger, K., Burholt, V., Bush, W. S., Calero, M., Cantwell, L. B., Chene, G., Chung, J., Cuccaro, M. L., Carracedo, Á., Cecchetti, R., Cervera-Carles, L., Charbonnier, C., Chen, H. -H., Chillotti, C., Ciccone, S., Claassen, J. A. H. R., Clark, C., Conti, E., Corma-Gómez, A., Costantini, E., Custodero, C., Daian, D., Dalmasso, M. C., Daniele, A., Dardiotis, E., Dartigues, J. -F., de Deyn, P. P., de Paiva Lopes, K., de Witte, L. D., Debette, S., Deckert, J., del Ser, T., Denning, N., Destefano, A., Dichgans, M., Diehl-Schmid, J., Diez-Fairen, M., Rossi, P. D., Djurovic, S., Duron, E., Düzel, E., Dufouil, C., Eiriksdottir, G., Engelborghs, S., Escott-Price, V., Espinosa, A., Ewers, M., Faber, K. M., Fabrizio, T., Nielsen, S. F., Fardo, D. W., Farotti, L., Fenoglio, C., Fernández-Fuertes, M., Ferrari, R., Ferreira, C. B., Ferri, E., Fin, B., Fischer, P., Fladby, T., Fließbach, K., Fongang, B., Fornage, M., Fortea, J., Foroud, T. M., Fostinelli, S., Fox, N. C., Franco-Macías, E., Bullido, M. J., Frank-García, A., Froelich, L., Fulton-Howard, B., Galimberti, D., García-Alberca, J. M., García-González, P., Garcia-Madrona, S., Garcia-Ribas, G., Ghidoni, R., Giegling, I., Giorgio, G., Goate, A. M., Goldhardt, O., Gomez-Fonseca, D., González-Pérez, A., Graff, C., Grande, G., Green, E., Grimmer, T., Grünblatt, E., Grunin, M., Gudnason, V., Guetta-Baranes, T., Haapasalo, A., Hadjigeorgiou, G., Haines, J. L., Hamilton-Nelson, K. L., Hampel, H., Hanon, O., Hardy, J., Hartmann, A. M., Hausner, L., Harwood, J., Heilmann-Heimbach, S., Helisalmi, S., Heneka, M. T., Hernández, I., Herrmann, M. J., Hoffmann, P., Holmes, C., Holstege, H., Vilas, R. H., Hulsman, M., Humphrey, J., Biessels, G. J., Jian, X., Johansson, C., Jun, G. R., Kastumata, Y., Kauwe, J., Kehoe, P. G., Kilander, L., Ståhlbom, A. K., Kivipelto, M., Koivisto, A., Kornhuber, J., Kosmidis, M. H., Kukull, W. A., Kuksa, P. P., Kunkle, B. W., Kuzma, A. B., Lage, C., Laukka, E. J., Launer, L., Lauria, A., Lee, C. -Y., Lehtisalo, J., Lerch, O., Lleó, A., Longstreth, W., Lopez, O., de Munain, A. L., Love, S., Löwemark, M., Luckcuck, L., Lunetta, K. L., Ma, Y., Macías, J., Macleod, C. A., Maier, W., Mangialasche, F., Spallazzi, M., Marquié, M., Marshall, R., Martin, E. R., Montes, A. M., Rodríguez, C. M., Masullo, C., Mayeux, R., Mead, S., Mecocci, P., Medina, M., Meggy, A., Mehrabian, S., Mendoza, S., Menéndez-González, M., Mir, P., Moebus, S., Mol, M., Molina-Porcel, L., Montrreal, L., Morelli, L., Moreno, F., Morgan, K., Mosley, T., Nöthen, M. M., Muchnik, C., Mukherjee, S., Nacmias, B., Ngandu, T., Nicolas, G., Nordestgaard, B. G., Olaso, R., Orellana, A., Orsini, M., Ortega, G., Padovani, A., Paolo, C., Papenberg, G., Parnetti, L., Pasquier, F., Pastor, P., Peloso, G., Pérez-Cordón, A., Pérez-Tur, J., Pericard, P., Peters, O., Pijnenburg, Y. A. L., Pineda, J. 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M, Humphrey, J, Biessels, G, Jian, X, Johansson, C, Jun, G, Kastumata, Y, Kauwe, J, Kehoe, P, Kilander, L, Ståhlbom, A, Kivipelto, M, Koivisto, A, Kornhuber, J, Kosmidis, M, Kukull, W, Kuksa, P, Kunkle, B, Kuzma, A, Lage, C, Laukka, E, Launer, L, Lauria, A, Lee, C, Lehtisalo, J, Lerch, O, Lleó, A, Longstreth, W, Lopez, O, de Munain, A, Love, S, Löwemark, M, Luckcuck, L, Lunetta, K, Ma, Y, Macías, J, Macleod, C, Maier, W, Mangialasche, F, Spallazzi, M, Marquié, M, Marshall, R, Martin, E, Montes, A, Rodríguez, C, Masullo, C, Mayeux, R, Mead, S, Mecocci, P, Medina, M, Meggy, A, Mehrabian, S, Mendoza, S, Menéndez-González, M, Mir, P, Moebus, S, Mol, M, Molina-Porcel, L, Montrreal, L, Morelli, L, Moreno, F, Morgan, K, Mosley, T, Nöthen, M, Muchnik, C, Mukherjee, S, Nacmias, B, Ngandu, T, Nicolas, G, Nordestgaard, B, Olaso, R, Orellana, A, Orsini, M, Ortega, G, Padovani, A, Paolo, C, Papenberg, G, Parnetti, L, Pasquier, F, Pastor, P, Peloso, G, Pérez-Cordón, A, Pérez-Tur, J, Pericard, P, 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Spec Psychiatrie (9), UAM. Departamento de Biología Molecular, University of Helsinki, Department of Neurosciences, HUS Internal Medicine and Rehabilitation, Timo Strandberg / Principal Investigator, Department of Medicine, Clinicum, HUS Neurocenter, Neurologian yksikkö, Centre of Excellence in Complex Disease Genetics, HUS Abdominal Center, Institut Pasteur, Institut National de la Santé et de la Recherche Médicale (France), European Commission, LabEx DISTALZ, Pérez-Tur, Jordi, University Children’s Hospital Basel (Suiza), INSERM (Francia), Lille Métropole Communauté Urbaine, Government of France (Francia), EADB, GR@ACE, DEGESCO, EADI, GERAD, Demgene, FinnGen, ADGC, CHARGE, Holmans, Peter A. [0000-0003-0870-9412], van der Lee, Sven J. [0000-0003-1606-8643], Costa, Marcos R. [0000-0002-4928-2163], Bis, Joshua C. [0000-0002-3409-1110], Brookes, Keeley J. [0000-0003-2427-2513], Bush, William S. [0000-0002-9729-6519], de Witte, Lot D. [0000-0002-7235-9958], del Ser, Teodoro [0000-0001-9806-7083], Fox, Nick C. [0000-0002-6660-657X], Bullido, María J. [0000-0002-6477-1117], Goate, Alison M. [0000-0002-0576-2472], Herrmann, Martin J. [0000-0001-9970-2122], Jun, Gyungah R. [0000-0002-3230-8697], Kehoe, Patrick G. [0000-0002-7542-1139], Kosmidis, Mary H. [0000-0001-8790-1220], Lunetta, Kathryn L. [0000-0002-9268-810X], MacLeod, Catherine A. [0000-0002-9314-7380], Nöthen, Markus M. [0000-0002-8770-2464], Nordestgaard, Børge G. [0000-0002-1954-7220], Pineda, Juan A. [0000-0002-3751-0296], Real, Luis M. [0000-0003-4932-7429], Reinders, Marcel J. T. [0000-0002-1148-1562], Satizabal, Claudia L. [0000-0002-1115-4430], Schott, Jonathan M. [0000-0003-2059-024X], Shadrin, Alexey A. [0000-0002-7467-250X], Farrer, Lindsay A. [0000-0001-5533-4225], Psaty, Bruce M. [0000-0002-7278-2190], Ikram, M. Arfan [0000-0003-0372-8585], Pericak-Vance, Margaret A. [0000-0001-7283-8804], Andreassen, Ole A. [0000-0002-4461-3568], van Duijn, Cornelia M. [0000-0002-2374-9204], van der Flier, Wiesje M. [0000-0001-8766-6224], and Molecular Neuroscience and Ageing Research (MOLAR)
- Subjects
tau Proteins/genetics ,Alzheimer`s disease Donders Center for Medical Neuroscience [Radboudumc 1] ,Neurologi ,MED/03 - GENETICA MEDICA ,45/43 ,Medizin ,Stress-related disorders Donders Center for Medical Neuroscience [Radboudumc 13] ,genetics [Alzheimer Disease] ,Genome-Wide Association Study ,Humans ,tau Proteins ,Alzheimer Disease ,Cognitive Dysfunction ,VARIANTS ,pathology [Alzheimer Disease] ,Tau Proteins ,Settore BIO/13 - Biologia Applicata ,Cognitive Dysfunction/psychology ,692/699/375/365/1283 ,IMPUTATION ,article ,1184 Genetics, developmental biology, physiology ,Biología y Biomedicina / Biología ,AMYLOID-BETA ,Settore MED/26 - NEUROLOGIA ,Neurology ,psychology [Cognitive Dysfunction] ,Medical Genetics ,Human ,Neuroscience(all) ,631/208/205/2138 ,All institutes and research themes of the Radboud University Medical Center ,SDG 3 - Good Health and Well-being ,ddc:570 ,Genetics ,Genetic Predisposition to Disease ,GENOME-WIDE ASSOCIATION ,METAANALYSIS ,Medicinsk genetik ,MED/26 - NEUROLOGIA ,Alzheimer Disease/genetics ,neurology ,tau Protein ,NECROSIS-FACTOR-ALPHA ,RISK LOCI ,genetics [tau Proteins] ,PREDICTION MODELS ,Human medicine ,GENERATION ,RESPONSES - Abstract
25 páginas, 6 figuras, 2 tablas, 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., This work was funded by a grant (EADB) from the EU Joint Programme – Neurodegenerative Disease Research. INSERM UMR1167 is also funded by the INSERM, Institut Pasteur de Lille, Lille Métropole Communauté Urbaine and French government’s LABEX DISTALZ program (development of innovative strategies for a transdisciplinary approach to AD). Full consortium acknowledgements and funding are in the Supplementary Not
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- 2022
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8. Author Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
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de Rojas, Itziar, Moreno-Grau, Sonia, Tesi, Niccolo, Grenier-Boley, Benjamin, Andrade, Victor, Jansen, Iris E., Pedersen, Nancy L., Stringa, Najada, Zettergren, Anna, Hernández, Isabel, Antúnez, Carmen, Antonell, Anna, Tankard, Rick M., Bis, Joshua C., Sims, Rebecca, Bellenguez, Céline, Quintela, Inés, González-Perez, Antonio, Calero, Miguel, Macías, Juan, Blesa, Rafael, Cervera-Carles, Laura, Menéndez-González, Manuel, Royo, Jose Luís, Moreno, Fermin, Huerto Vilas, Raquel, Baquero, Miquel, Diez-Fairen, Mónica, Lage, Carmen, García-González, Pablo, Valero, Sergi, Ullgren, Abbe, Naj, Adam C., Lemstra, Afina W., Benussi, Alberto, Rábano, Alberto, Padovani, Alessandro, Squassina, Alessio, de Mendonça, Alexandre, Arias Pastor, Alfonso, Kok, Almar A. 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Rodrigo, S., Rodríguez-Rodríguez, E., Royo, J.L., Sanchez del Valle Díaz, R., Sánchez-Juan, P., Sastre, I., Vicente, M.P., Vigo-Ortega, R., Vivancos, L., Macleod, C., McCracken, C., Brayne, Carol, Bresner, Catherine, Grozeva, Detelina, Bellou, Eftychia, Sommerville, Ewen W., Matthews, F., Leonenko, Ganna, Menzies, Georgina, Windle, Gill, Harwood, Janet, Phillips, Judith, Bennett, K., Luckuck, Lauren, Clare, Linda, Woods, Robert, Saad, Salha, Burholt, Vanessa, Kehoe, Patrick Gavin, Garcia-Ribas, Guillermo, Sánchez-Juan, Pascual, Pastor, Pau, Pérez-Tur, Jordi, Piñol-Ripoll, Gerard, Lopez de Munain, Adolfo, García-Alberca, Jose María, Bullido, María J., Álvarez, Victoria, Lleó, Alberto, Real, Luis M., Mir, Pablo, Medina, Miguel, Scheltens, Philip, Holstege, Henne, Marquié, Marta, Sáez, María Eugenia, Carracedo, Ángel, Amouyel, Philippe, Schellenberg, Gerard D., Williams, Julie, Seshadri, Sudha, van Duijn, Cornelia M., Mather, Karen A., Sánchez-Valle, Raquel, Serrano-Ríos, Manuel, Orellana, Adelina, Tárraga, Lluís, Blennow, Kaj, Huisman, Martijn, Andreassen, Ole A., Posthuma, Danielle, Clarimón, Jordi, Boada, Mercè, van der Flier, Wiesje M., Ramirez, Alfredo, Lambert, Jean-Charles, van der Lee, Sven J., Ruiz, Agustín, Smith, A David, Saenz, Aldo, Bizzarro, Alessandra, Lauria, Alessandra, Vacca, Alessandro, Solomon, Alina, Anastasiou, Anna, Richardson, Anna, Boland, Anne, Koivisto, Anne, Daniele, Antonio, Greco, Antonio, Marianthi, Arnaoutoglou, McGuinness, Bernadette, Fin, Bertrand, Ferrari, Camilla, Custodero, Carlo, Ferrarese, Carlo, Ingino, Carlos, Mangone, Carlos, Reyes Toso, Carlos, Martínez, Carmen, Cuesta, Carolina, Muchnik, Carolina, Joachim, Catharine, Ortiz, Cecilia, Besse, Céline, Johansson, Charlotte, Zoia, Chiara Paola, Laske, Christoph, Anastasiou, Costas, Palacio, Dana Lis, Politis, Daniel G, Janowitz, Daniel, Craig, David, Mann, David M, Neary, David, Jürgen, Deckert, Daian, Delphine, Belezhanska, Diyana, Kohler, Eduardo, Castaño, Eduardo M, Koutsouraki, Effrosyni, Chipi, Elena, De Roeck, Ellen, Costantini, Emanuele, Vardy, Emma R L C, Piras, Fabrizio, Roveta, Fausto, Piras, Federica, Prestia, Federico Ariel, Assogna, Francesca, Salani, Francesca, Sala, Gessica, Lacidogna, Giordano, Novack, Gisela, Wilcock, Gordon, Thonberg, Håkan, Kölsch, Heike, Weber, Heike, Boecker, Henning, Etchepareborda, Ignacio, Piaceri, Irene, Tuomilehto, Jaakko, Lindström, Jaana, Laczo, Jan, Johnston, Janet, Deleuze, Jean-François, Harris, Jenny, Schott, Jonathan M, Priller, Josef, Bacha, Juan Ignacio, Snowden, Julie, Lisso, Julieta, Mihova, Kalina Yonkova, Traykov, Latchezar, Morelli, Laura, Brusco, Luis Ignacio, Rainer, Malik, Takalo, Mari, Bjerke, Maria, Del Zompo, Maria, Serpente, Maria, Sanchez Abalos, Mariana, Rios, Mario, Peltonen, Markku, Herrman, Martin J, Kohler, Matias, Rojo, Matias, Jones, Matthew, Orsini, Michela, Medel, Nancy, Olivar, Natividad, Fox, Nick C, Salvadori, Nicola, Hooper, Nigel M, Galeano, Pablo, Solis, Patricia, Bastiani, Patrizia, Passmore, Peter, Heun, Reinhard, Antikainen, Riitta, Olaso, Robert, Perneczky, Robert, Germani, Sandra, López-García, Sara, Love, Seth, Mehrabian, Shima, Bagnoli, Silvia, Kochen, Silvia, Andreoni, Simona, Teipel, Stefan, Todd, Stephen, Pickering-Brown, Stuart, Natunen, Teemu, Tegos, Thomas, Laatikainen, Tiina, Strandberg, Timo, Polvikoski, Tuomo M, Matoska, Vaclav, Ciullo, Valentina, Cores, Valeria, Solfrizzi, Vincenzo, Lisetti, Viviana, Sevillano, Zulma, Abdelnour, C., Aguilera, N., Alarcon, E., Alegret, M., Benaque, A., Boada, M., Buendia, M., Cañabate, P., Carracedo, A., Corbatón-Anchuelo, A., de Rojas, I., Diego, S., Espinosa, A., Gailhajenet, A., García-González, P., Gil, S., Guitart, M., González-Pérez, A., Hernández, I., Ibarria, M., Lafuente, A., Macias, J., Maroñas, O., Martín, E., Martínez, M. T., Marquié, M., Mauleón, A., Montrreal, L., Moreno-Grau, S., Moreno, M., Orellana, A., Ortega, G., Pancho, A., Pelejá, E., Pérez-Cordon, A., Pineda, J. A., Preckler, S., Quintela, I., Real, L. M., Rosende-Roca, M., Ruiz, A., Sáez, M. E., Sanabria, A., Serrano-Rios, M., Sotolongo-Grau, O., Tárraga, L., Valero, S., Vargas, L., Adarmes-Gómez, A. D., Alarcón-Martín, E., Alonso, M. D., Álvarez, I., Álvarez, V., Amer-Ferrer, G., Antequera, M., Antúnez, C., Baquero, M., Bernal, M., Blesa, R., Buiza-Rueda, D., Bullido, M. J., Burguera, J. A., Calero, M., Carrillo, F., Carrión-Claro, M., Casajeros, M. J., Clarimón, J., Cruz-Gamero, J. M., de Pancorbo, M. M., Del Ser, T., Diez-Fairen, M., Escuela, R., Garrote-Espina, L., Fortea, J., Franco-Macías, E., Frank-García, A., García-Alberca, J. M., Garcia Madrona, S., Garcia-Ribas, G., Gómez-Garre, P., Hevilla, S., Jesús, S., Labrador Espinosa, M. A., Lage, C., Legaz, A., Lleó, A., Lopez de Munain, A., López-García, S., Macias-García, D., Manzanares, S., Marín, M., Marín-Muñoz, J., Marín, T., Martín Montes, A., Martínez, B., Martínez, C., Martínez, V., Martínez-Lage Álvarez, P., Medina, M., Mendioroz Iriarte, M., Menéndez-González, M., Mir, P., Molinuevo, J. L., Pastor, P., Pérez Tur, J., Periñán-Tocino, T., Pineda-Sanchez, R., Piñol-Ripoll, G., Rábano, A., Real de Asúa, D., Rodrigo, S., Rodríguez-Rodríguez, E., Royo, J. L., Sanchez Del Valle Díaz, R., Sánchez-Juan, P., Sastre, I., Vicente, M. P., Vigo-Ortega, R., Vivancos, L., Macleod, C., McCracken, C., Brayne, Carol, Bresner, Catherine, Grozeva, Detelina, Bellou, Eftychia, Sommerville, Ewen W, Matthews, F., Leonenko, Ganna, Menzies, Georgina, Windle, Gill, Harwood, Janet, Phillips, Judith, Bennett, K., Luckuck, Lauren, Clare, Linda, Woods, Robert, Saad, Salha, Burholt, Vanessa, Rongve, Arvid, Brussels Heritage Lab, Clinical sciences, Neuroprotection & Neuromodulation, and Neurology
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polygenic risk scores ,Multidisciplinary ,Common variants ,Neuroscience(all) ,neurology ,Medizin ,General Physics and Astronomy ,ddc:500 ,General Chemistry ,Alzheimer's disease ,General Biochemistry, Genetics and Molecular Biology ,RISK STRATIFICATION - Abstract
The original version of this Article omitted from the author list the 212th author Patrizia Mecocci, who is from the Institute of Gerontology and Geriatrics, Department of Medicine, University of Perugia, Perugia, Italy. Consequently, the “Sample Contribution” section of Author Contributions was updated to add “P.M” between “P.D.” and “R.C.”. Additionally, the original version of this Article contained the incorrect affiliation for author Patrick Gavin Kehoe, which incorrectly read “German Center for Neurodegenerative Diseases (DZNE), Berlin, Germany”. The correct version replaces this affiliation with “Bristol Medical School (THS), University of Bristol, Southmead Hospital, Bristol, UK”. This has been corrected in both the PDF and HTML versions of the Article. CA extern
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- 2023
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9. Genetic Associations Between Modifiable Risk Factors and Alzheimer Disease
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Luo, J, Thomassen, J, Bellenguez, C, Grenier-Boley, B, de Rojas, I, Castillo, A, Parveen, K, Küçükali, F, Nicolas, A, Peters, O, Schneider, A, Dichgans, M, Rujescu, D, Scherbaum, N, Jürgen, D, Riedel-Heller, S, Hausner, L, Porcel, L, Düzel, E, Grimmer, T, Wiltfang, J, Heilmann-Heimbach, S, Moebus, S, Tegos, T, Scarmeas, N, Clarimon, J, Moreno, F, Pérez-Tur, J, Bullido, M, Pastor, P, Sánchez-Valle, R, Álvarez, V, Boada, M, García-González, P, Puerta, R, Mir, P, Real, L, Piñol-Ripoll, G, García-Alberca, J, Royo, J, Rodriguez-Rodriguez, E, Soininen, H, Kuulasmaa, T, de Mendonça, A, Mehrabian, S, Hort, J, Vyhnalek, M, van der Lee, S, Graff, C, Papenberg, G, Giedraitis, V, Boland, A, Bacq-Daian, D, Deleuze, J, Nicolas, G, Dufouil, C, Pasquier, F, Hanon, O, Debette, S, Grünblatt, E, Popp, J, Benussi, L, Galimberti, D, Arosio, B, Mecocci, P, Solfrizzi, V, Parnetti, L, Squassina, A, Tremolizzo, L, Borroni, B, Nacmias, B, Sorbi, S, Caffarra, P, Seripa, D, Rainero, I, Daniele, A, Masullo, C, Spalletta, G, Williams, J, Amouyel, P, Jessen, F, Kehoe, P, Magda, T, Rossi, G, Sánchez-Juan, P, Sleegers, K, Ingelsson, M, Andreassen, O, Hiltunen, M, Van Duijn, C, Sims, R, van der Flier, W, Ruiz, A, Ramirez, A, Lambert, J, Frikke-Schmidt, R, Luo, Jiao, Thomassen, Jesper Qvist, Bellenguez, Céline, Grenier-Boley, Benjamin, de Rojas, Itziar, Castillo, Atahualpa, Parveen, Kayenat, Küçükali, Fahri, Nicolas, Aude, Peters, Oliver, Schneider, Anja, Dichgans, Martin, Rujescu, Dan, Scherbaum, Norbert, Jürgen, Deckert, Riedel-Heller, Steffi, Hausner, Lucrezia, Porcel, Laura Molina, Düzel, Emrah, Grimmer, Timo, Wiltfang, Jens, Heilmann-Heimbach, Stefanie, Moebus, Susanne, Tegos, Thomas, Scarmeas, Nikolaos, Clarimon, Jordi, Moreno, Fermin, Pérez-Tur, Jordi, Bullido, María J, Pastor, Pau, Sánchez-Valle, Raquel, Álvarez, Victoria, Boada, Mercè, García-González, Pablo, Puerta, Raquel, Mir, Pablo, Real, Luis M, Piñol-Ripoll, Gerard, García-Alberca, Jose María, Royo, Jose Luís, Rodriguez-Rodriguez, Eloy, Soininen, Hilkka, Kuulasmaa, Teemu, de Mendonça, Alexandre, Mehrabian, Shima, Hort, Jakub, Vyhnalek, Martin, van der Lee, Sven, Graff, Caroline, Papenberg, Goran, Giedraitis, Vilmantas, Boland, Anne, Bacq-Daian, Delphine, Deleuze, Jean-François, Nicolas, Gael, Dufouil, Carole, Pasquier, Florence, Hanon, Olivier, Debette, Stéphanie, Grünblatt, Edna, Popp, Julius, Benussi, Luisa, Galimberti, Daniela, Arosio, Beatrice, Mecocci, Patrizia, Solfrizzi, Vincenzo, Parnetti, Lucilla, Squassina, Alessio, Tremolizzo, Lucio, Borroni, Barbara, Nacmias, Benedetta, Sorbi, Sandro, Caffarra, Paolo, Seripa, Davide, Rainero, Innocenzo, Daniele, Antonio, Masullo, Carlo, Spalletta, Gianfranco, Williams, Julie, Amouyel, Philippe, Jessen, Frank, Kehoe, Patrick, Magda, Tsolaki, Rossi, Giacomina, Sánchez-Juan, Pascual, Sleegers, Kristel, Ingelsson, Martin, Andreassen, Ole A, Hiltunen, Mikko, Van Duijn, Cornelia, Sims, Rebecca, van der Flier, Wiesje, Ruiz, Agustín, Ramirez, Alfredo, Lambert, Jean-Charles, Frikke-Schmidt, Ruth, Luo, J, Thomassen, J, Bellenguez, C, Grenier-Boley, B, de Rojas, I, Castillo, A, Parveen, K, Küçükali, F, Nicolas, A, Peters, O, Schneider, A, Dichgans, M, Rujescu, D, Scherbaum, N, Jürgen, D, Riedel-Heller, S, Hausner, L, Porcel, L, Düzel, E, Grimmer, T, Wiltfang, J, Heilmann-Heimbach, S, Moebus, S, Tegos, T, Scarmeas, N, Clarimon, J, Moreno, F, Pérez-Tur, J, Bullido, M, Pastor, P, Sánchez-Valle, R, Álvarez, V, Boada, M, García-González, P, Puerta, R, Mir, P, Real, L, Piñol-Ripoll, G, García-Alberca, J, Royo, J, Rodriguez-Rodriguez, E, Soininen, H, Kuulasmaa, T, de Mendonça, A, Mehrabian, S, Hort, J, Vyhnalek, M, van der Lee, S, Graff, C, Papenberg, G, Giedraitis, V, Boland, A, Bacq-Daian, D, Deleuze, J, Nicolas, G, Dufouil, C, Pasquier, F, Hanon, O, Debette, S, Grünblatt, E, Popp, J, Benussi, L, Galimberti, D, Arosio, B, Mecocci, P, Solfrizzi, V, Parnetti, L, Squassina, A, Tremolizzo, L, Borroni, B, Nacmias, B, Sorbi, S, Caffarra, P, Seripa, D, Rainero, I, Daniele, A, Masullo, C, Spalletta, G, Williams, J, Amouyel, P, Jessen, F, Kehoe, P, Magda, T, Rossi, G, Sánchez-Juan, P, Sleegers, K, Ingelsson, M, Andreassen, O, Hiltunen, M, Van Duijn, C, Sims, R, van der Flier, W, Ruiz, A, Ramirez, A, Lambert, J, Frikke-Schmidt, R, Luo, Jiao, Thomassen, Jesper Qvist, Bellenguez, Céline, Grenier-Boley, Benjamin, de Rojas, Itziar, Castillo, Atahualpa, Parveen, Kayenat, Küçükali, Fahri, Nicolas, Aude, Peters, Oliver, Schneider, Anja, Dichgans, Martin, Rujescu, Dan, Scherbaum, Norbert, Jürgen, Deckert, Riedel-Heller, Steffi, Hausner, Lucrezia, Porcel, Laura Molina, Düzel, Emrah, Grimmer, Timo, Wiltfang, Jens, Heilmann-Heimbach, Stefanie, Moebus, Susanne, Tegos, Thomas, Scarmeas, Nikolaos, Clarimon, Jordi, Moreno, Fermin, Pérez-Tur, Jordi, Bullido, María J, Pastor, Pau, Sánchez-Valle, Raquel, Álvarez, Victoria, Boada, Mercè, García-González, Pablo, Puerta, Raquel, Mir, Pablo, Real, Luis M, Piñol-Ripoll, Gerard, García-Alberca, Jose María, Royo, Jose Luís, Rodriguez-Rodriguez, Eloy, Soininen, Hilkka, Kuulasmaa, Teemu, de Mendonça, Alexandre, Mehrabian, Shima, Hort, Jakub, Vyhnalek, Martin, van der Lee, Sven, Graff, Caroline, Papenberg, Goran, Giedraitis, Vilmantas, Boland, Anne, Bacq-Daian, Delphine, Deleuze, Jean-François, Nicolas, Gael, Dufouil, Carole, Pasquier, Florence, Hanon, Olivier, Debette, Stéphanie, Grünblatt, Edna, Popp, Julius, Benussi, Luisa, Galimberti, Daniela, Arosio, Beatrice, Mecocci, Patrizia, Solfrizzi, Vincenzo, Parnetti, Lucilla, Squassina, Alessio, Tremolizzo, Lucio, Borroni, Barbara, Nacmias, Benedetta, Sorbi, Sandro, Caffarra, Paolo, Seripa, Davide, Rainero, Innocenzo, Daniele, Antonio, Masullo, Carlo, Spalletta, Gianfranco, Williams, Julie, Amouyel, Philippe, Jessen, Frank, Kehoe, Patrick, Magda, Tsolaki, Rossi, Giacomina, Sánchez-Juan, Pascual, Sleegers, Kristel, Ingelsson, Martin, Andreassen, Ole A, Hiltunen, Mikko, Van Duijn, Cornelia, Sims, Rebecca, van der Flier, Wiesje, Ruiz, Agustín, Ramirez, Alfredo, Lambert, Jean-Charles, and Frikke-Schmidt, Ruth
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Importance: An estimated 40% of dementia is potentially preventable by modifying 12 risk factors throughout the life course. However, robust evidence for most of these risk factors is lacking. Effective interventions should target risk factors in the causal pathway to dementia. Objective: To comprehensively disentangle potentially causal aspects of modifiable risk factors for Alzheimer disease (AD) to inspire new drug targeting and improved prevention. Design, Setting, and Participants: This genetic association study was conducted using 2-sample univariable and multivariable mendelian randomization. Independent genetic variants associated with modifiable risk factors were selected as instrumental variables from genomic consortia. Outcome data for AD were obtained from the European Alzheimer & Dementia Biobank (EADB), generated on August 31, 2021. Main analyses were conducted using the EADB clinically diagnosed end point data. All analyses were performed between April 12 and October 27, 2022. Exposures: Genetically determined modifiable risk factors. Main Outcomes and Measures: Odds ratios (ORs) and 95% CIs for AD were calculated per 1-unit change of genetically determined risk factors. Results: The EADB-diagnosed cohort included 39106 participants with clinically diagnosed AD and 401577 control participants without AD. The mean age ranged from 72 to 83 years for participants with AD and 51 to 80 years for control participants. Among participants with AD, 54% to 75% were female, and among control participants, 48% to 60% were female. Genetically determined high-density lipoprotein (HDL) cholesterol concentrations were associated with increased odds of AD (OR per 1-SD increase, 1.10 [95% CI, 1.05-1.16]). Genetically determined high systolic blood pressure was associated with increased risk of AD after adjusting for diastolic blood pressure (OR per 10-mm Hg increase, 1.22 [95% CI, 1.02-1.46]). In a second analysis to minimize bias due to sample overlap, the entire
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10. O-200 Proximal composition, mineral content, and texture of meat from light lambs and non-pregnant ewes
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Panea, B., primary, Ripoll, G., additional, Granero, A., additional, and Alcalde, M.J., additional
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- 2023
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11. P-094 Color, fatty acids and lipid oxidation of meat from male and female light lambs, and non-pregnant ewes
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Ripoll, G., primary, Panea, B., additional, Granero, A., additional, and Alcalde, M.J., additional
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- 2023
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12. O-196 Animal growth, tissular composition, and carcass conformation of light Merino lambs
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Alcalde, M.J., primary, Panea, B., additional, Ripoll, G., additional, Bartolome, E., additional, and Granero, A., additional
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- 2023
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13. K-54 Characterization of meat quality in suckling kids
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Ripoll, G., primary
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- 2023
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14. P-093 Multivariate analysis of meat from non-pregnant ewes, light lambs of Merino breed
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Panea, B., primary, Ripoll, G., additional, Granero, A., additional, and Alcalde, M.J., additional
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- 2023
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15. 20686. CARGA ANTICOLINÉRGICA EN UNA MUESTRA DE PACIENTES INGRESADOS EN UNA UNIDAD NEUROPSIQUIÁTRICA Y COMPARATIVA EN EL USO DE ESCALAS DE CLASIFICACIÓN DE ANTICOLINÉRGICOS
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Ruiz Julián, M., Torres Bondia, F., Ortega Bravo, M., and Piñol Ripoll, G.
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- 2024
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16. 20349. IMPACTO DE TERAPIAS COGNITIVAS EN SÍNTOMAS PSICOLÓGICOS Y CONDUCTUALES EN PERSONAS CON DETERIORO COGNITIVO LEVE O DEMENCIA: UNA REVISIÓN SISTEMÁTICA EXPLORATORIA
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Lara Consuegra, B., Torres Hidalgo, P., Piñol Ripoll, G., and Carnes Vendrell, A.
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- 2024
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17. 20237. HUELLA DE EXPRESIÓN GENÉTICA SANGUÍNEA DE GENES INFLAMATORIOS Y REDOX DE LA APNEA OBSTRUCTIVA DEL SUEÑO EN PACIENTES CON ENFERMEDAD DE ALZHEIMER
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Romero El Khayat, L., Dakterzada, F., Huerto, R., Carnes, A., Mínguez, O., Pujol, M., Targa, A., Barbé, F., Milanesi, E., Dobre, M., Manda, G., Cuadrado, A., and Piñol Ripoll, G.
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- 2024
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18. 20148. DÉFICITS COGNITIVOS ASOCIADOS A LAS ALTERACIONES DEL SUEÑO EN PACIENTES POS-COVID-19
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Carnes Vendrell, A., Piñol Ripoll, G., Ariza, M., Cano, N., Segura, B., Junque, C., Béjar, J., Barrué, C., and Garolera, M.
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- 2024
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19. 20150. CALIDAD DEL SUEÑO EVALUADA MEDIANTE ACTIGRAFÍA EN PARTICIPANTES CON CONDICIÓN POS-COVID-19: RELACIÓN CON VARIABLES COGNITIVAS
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Carnes Vendrell, A., Piñol Ripoll, G., Targa, A., Tahan, N., Ariza, M., Cano, N., Segura, B., Junque, C., Béjar, J., Barrué, C., and Garolera, M.
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- 2024
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20. 20347. GAME PROJECT: GAME AMONG MILD COGNITIVE IMPAIRMENT PATIENTS EXPERIENCE. ESTUDIO PILOTO DE UN ENSAYO CLÍNICO ALEATORIZADO Y SU IMPACTO EN COGNICIÓN
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Lara Consuegra, B., Carnes Vendrell, A., Terés, N., Garrote Marine, C., March Llanes, J., Moya Higueras, J., Estrada Plana, V., Torres Hidalgo, P., Rodríguez Farré, D., and Piñol Ripoll, G.
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21. 20488. CAPACIDAD PREDICTIVA DEL ESTATUS β-AMILOIDE (LCR) DE P-TAU217 PLASMÁTICA: ESTUDIO MULTICÉNTRICO EN CATALUÑA
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Lladó Plarrumaní, A., Sarto Alonso, J., Augè Fradera, J., Guillén Soley, N., Massons García, M., Castellví Sampol, M., Tort Merino, A., Antonell Boixader, A., Puey Sánchez, R., Fernández Villullas, G., Alberique, A., Colmenero, A., Falgàs Martínez, N., Borrego Écija, S., Piñol Ripoll, G., Riba Llena, I., Carnés Vendrell, A., Cullell Juncà, M., Osuna Pulido, M., Bajo Peñas, L., Romero Mas, T., Bonjoch Jaques, E., Bello López, J., Fernández González, S., Balagué Marmaña, M., Gómez Ruiz, I., Boltes Alandí, A., Pont Sunyer, C., Cuevas Pérez, R., Carrillo Molina, S., Iglesias Gámez, L., Casadevall Codina, T., Grau Guinea, L., Espada Olivan, F., Sánchez-Valle Díaz, R., and Balasa, M.
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22. 21590. RESULTADOS COMPLETOS DEL ENSAYO DE FASE 2 Y HALLAZGOS POST HOC DE ABVAC40, UNA VACUNA ANTIAβ40 PARA LA ENFERMEDAD DE ALZHEIMER
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Pascual Lucas, M., Lacosta López-Alda, A., Montañés Bellosta, M., Canudas Becana, J., Loscos Aranda, J., Allué Blasco, J., Sarasa Coronas, L., Fandos Marín, N., Romero Adiego, J., Sarasa Barrio, M., Piñol Ripoll, G., Terencio Alemany, J., and Boada Rovira, M.
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- 2024
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23. 20887. EVALUACIÓN DEL RENDIMIENTO DE P-TAU217 PLASMÁTICO: PRECISIÓN DIAGNÓSTICA Y DISCRIMINACIÓN PATOLÓGICA
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Dakterzada Sedaghat, F., López Ortega, R., Tahan, N., Riba Llena, I., Ruiz Julián, M., Arias Pastor, A., and Piñol Ripoll, G.
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- 2024
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24. Meningeal siderosis in a patient carrying the p.Arg92Gln variant TNFRSF1A gene
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Nicolás-Sánchez, F.J., Aróstegui-Gorospe, J.I., Piñol Ripoll, G., Ribes Amorós, I., Nicolás-Sarrat, F.J., Sarrat-Nuevo, R.M., and Melgarejo-Moreno, P.J.
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- 2022
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25. Siderosis meníngea en un paciente portador de la variante p.Arg92Gln del gen TNFRSF1A
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Nicolás-Sánchez, F.J., Aróstegui-Gorospe, J.I., Piñol Ripoll, G., Ribes Amorós, I., Nicolás-Sarrat, F.J., Sarrat-Nuevo, R.M., and Melgarejo-Moreno, P.J.
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- 2022
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26. Quality of life and the experience of living with early-stage Alzheimer's disease
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Villarejo-Galende, A. (Alberto), García-Arcelay, E. (Elena), Pinol-Ripoll, G. (Gerard), del Olmo-Rodríguez, A. (Antonio), Viñuela, F. (Félix), Boada, M. (Merce), Franco-Macias, E. (Emilio), Ibáñez de la Pena, A. (Almudena), Riverol-Fernández, M. (Mario), Abizanda-Soler, P. (Pedro), Arroyo, R. (Rafael), Baquero-Toledo, M. (Miquel), Feria-Vilar, I. (Inmaculada), Balasa, M. (Mircea), Berbel, Á. (Ángel), Rodríguez-Rodríguez, E. (Eloy), Vieira-Camposs, A. (Alba), García-Ribas, G. (Guillermo), Rodrigo-Herrero, S. (Silvia), Terrancle, Á. (Ángeles), Prefasi, D. (Daniel), Lleo, A. (Alberto), and Maurino, J. (Jorge)
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Quality of life ,Stigma ,Depression ,Early-stage ,Hopelessness ,Área de Medicina Clínica y Epidemiología ,Alzheimer’s disease - Abstract
Background: There is a need to better understand the experience of patients living with Alzheimer's disease (AD) in the early stages. Objective: The aim of the study was to evaluate the perception of quality of life in patients with early-stage AD. Methods: A multicenter, non-interventional study was conducted including patients of 50-90 years of age with prodromal or mild AD, a Mini-Mental State Examination (MMSE) score >= 22, and a Clinical Dementia Rating-Global score (CDR-GS) of 0.5-1.0. The Quality of Life in Alzheimer ' s Disease (QoL-AD) questionnaire was used to assess health-related quality of life. A battery of self-report instruments was used to evaluate different psychological and behavioral domains. Associations between the QoL-AD and other outcome measures were analyzed using Spearman's rank correlations. Results: A total of 149 patients were included. Mean age (SD) was 72.3 (7.0) years and mean disease duration was 1.4 (1.8) years. Mean MMSE score was 24.6 (2.1). The mean QoL-AD score was 37.9 (4.5). Eighty-three percent (n = 124) of patients had moderate-to-severe hopelessness, 22.1% (n = 33) had depressive symptoms, and 36.9% (n = 55) felt stigmatized. The quality of life showed a significant positive correlation with self-efficacy and negative correlations with depression, emotional and practical consequences, stigma, and hopelessness. Conclusion: Stigma, depressive symptoms, and hopelessness are frequent scenarios in AD negatively impacting quality of life, even in a population with short disease duration and minimal cognitive impairment.
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- 2022
27. Additional file 1 of Evolution of the consumption trend of proton pump inhibitors in the Lleida Health Region between 2002 and 2015
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Torres-Bondia, F., de Batlle, J., Galván, L., Buti, M., Barbé, F., and Piñol-Ripoll, G.
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equipment and supplies - Abstract
Additional file 1: Table 1. Principal adverse effects of the different subtypes of PPIs. Table 2. Prevalence of long-term consumption of IBPs (cumulative DDD> 180 between 2002 and 2015), according to sex and age groups (%).Table 3. Prevalence of long-term consumption of IBPs (cumulative DDD> 365 between 2002 and 2015), according to sex and age groups (%).
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- 2022
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28. New insights into the genetic etiology of Alzheimer's disease and related dementias
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Bellenguez, C. Küçükali, F. Jansen, I.E. Kleineidam, L. Moreno-Grau, S. Amin, N. Naj, A.C. Campos-Martin, R. Grenier-Boley, B. Andrade, V. Holmans, P.A. Boland, A. Damotte, V. van der Lee, S.J. Costa, M.R. Kuulasmaa, T. Yang, Q. de Rojas, I. Bis, J.C. Yaqub, A. Prokic, I. Chapuis, J. Ahmad, S. Giedraitis, V. Aarsland, D. Garcia-Gonzalez, P. Abdelnour, C. Alarcón-Martín, E. Alcolea, D. Alegret, M. Alvarez, I. Álvarez, V. Armstrong, N.J. Tsolaki, A. Antúnez, C. Appollonio, I. Arcaro, M. Archetti, S. Pastor, A.A. Arosio, B. Athanasiu, L. Bailly, H. Banaj, N. Baquero, M. Barral, S. Beiser, A. Pastor, A.B. Below, J.E. Benchek, P. Benussi, L. Berr, C. Besse, C. Bessi, V. Binetti, G. Bizarro, A. Blesa, R. Boada, M. Boerwinkle, E. Borroni, B. Boschi, S. Bossù, P. Bråthen, G. Bressler, J. Bresner, C. Brodaty, H. Brookes, K.J. Brusco, L.I. Buiza-Rueda, D. Bûrger, K. Burholt, V. Bush, W.S. Calero, M. Cantwell, L.B. Chene, G. Chung, J. Cuccaro, M.L. Carracedo, Á. Cecchetti, R. Cervera-Carles, L. Charbonnier, C. Chen, H.-H. Chillotti, C. Ciccone, S. Claassen, J.A.H.R. Clark, C. Conti, E. Corma-Gómez, A. Costantini, E. Custodero, C. Daian, D. Dalmasso, M.C. Daniele, A. Dardiotis, E. Dartigues, J.-F. de Deyn, P.P. de Paiva Lopes, K. de Witte, L.D. Debette, S. Deckert, J. Del Ser, T. Denning, N. DeStefano, A. Dichgans, M. Diehl-Schmid, J. Diez-Fairen, M. Rossi, P.D. Djurovic, S. Duron, E. Düzel, E. Dufouil, C. Eiriksdottir, G. Engelborghs, S. Escott-Price, V. Espinosa, A. Ewers, M. Faber, K.M. Fabrizio, T. Nielsen, S.F. Fardo, D.W. Farotti, L. Fenoglio, C. Fernández-Fuertes, M. Ferrari, R. Ferreira, C.B. Ferri, E. Fin, B. Fischer, P. Fladby, T. Fließbach, K. Fongang, B. Fornage, M. Fortea, J. Foroud, T.M. Fostinelli, S. Fox, N.C. Franco-Macías, E. Bullido, M.J. Frank-García, A. Froelich, L. Fulton-Howard, B. Galimberti, D. García-Alberca, J.M. García-González, P. Garcia-Madrona, S. Garcia-Ribas, G. Ghidoni, R. Giegling, I. Giorgio, G. Goate, A.M. Goldhardt, O. Gomez-Fonseca, D. González-Pérez, A. Graff, C. Grande, G. Green, E. Grimmer, T. Grünblatt, E. Grunin, M. Gudnason, V. Guetta-Baranes, T. Haapasalo, A. Hadjigeorgiou, G. Haines, J.L. Hamilton-Nelson, K.L. Hampel, H. Hanon, O. Hardy, J. Hartmann, A.M. Hausner, L. Harwood, J. Heilmann-Heimbach, S. Helisalmi, S. Heneka, M.T. Hernández, I. Herrmann, M.J. Hoffmann, P. Holmes, C. Holstege, H. Vilas, R.H. Hulsman, M. Humphrey, J. Biessels, G.J. Jian, X. Johansson, C. Jun, G.R. Kastumata, Y. Kauwe, J. Kehoe, P.G. Kilander, L. Ståhlbom, A.K. Kivipelto, M. Koivisto, A. Kornhuber, J. Kosmidis, M.H. Kukull, W.A. Kuksa, P.P. Kunkle, B.W. Kuzma, A.B. Lage, C. Laukka, E.J. Launer, L. Lauria, A. Lee, C.-Y. Lehtisalo, J. Lerch, O. Lleó, A. Longstreth, W., Jr Lopez, O. de Munain, A.L. Love, S. Löwemark, M. Luckcuck, L. Lunetta, K.L. Ma, Y. Macías, J. MacLeod, C.A. Maier, W. Mangialasche, F. Spallazzi, M. Marquié, M. Marshall, R. Martin, E.R. Montes, A.M. Rodríguez, C.M. Masullo, C. Mayeux, R. Mead, S. Mecocci, P. Medina, M. Meggy, A. Mehrabian, S. Mendoza, S. Menéndez-González, M. Mir, P. Moebus, S. Mol, M. Molina-Porcel, L. Montrreal, L. Morelli, L. Moreno, F. Morgan, K. Mosley, T. Nöthen, M.M. Muchnik, C. Mukherjee, S. Nacmias, B. Ngandu, T. Nicolas, G. Nordestgaard, B.G. Olaso, R. Orellana, A. Orsini, M. Ortega, G. Padovani, A. Paolo, C. Papenberg, G. Parnetti, L. Pasquier, F. Pastor, P. Peloso, G. Pérez-Cordón, A. Pérez-Tur, J. Pericard, P. Peters, O. Pijnenburg, Y.A.L. Pineda, J.A. Piñol-Ripoll, G. Pisanu, C. Polak, T. Popp, J. Posthuma, D. Priller, J. Puerta, R. Quenez, O. Quintela, I. Thomassen, J.Q. Rábano, A. Rainero, I. Rajabli, F. Ramakers, I. Real, L.M. Reinders, M.J.T. Reitz, C. Reyes-Dumeyer, D. Ridge, P. Riedel-Heller, S. Riederer, P. Roberto, N. Rodriguez-Rodriguez, E. Rongve, A. Allende, I.R. Rosende-Roca, M. Royo, J.L. Rubino, E. Rujescu, D. Sáez, M.E. Sakka, P. Saltvedt, I. Sanabria, Á. Sánchez-Arjona, M.B. Sanchez-Garcia, F. Juan, P.S. Sánchez-Valle, R. Sando, S.B. Sarnowski, C. Satizabal, C.L. Scamosci, M. Scarmeas, N. Scarpini, E. Scheltens, P. Scherbaum, N. Scherer, M. Schmid, M. Schneider, A. Schott, J.M. Selbæk, G. Seripa, D. Serrano, M. Sha, J. Shadrin, A.A. Skrobot, O. Slifer, S. Snijders, G.J.L. Soininen, H. Solfrizzi, V. Solomon, A. Song, Y. Sorbi, S. Sotolongo-Grau, O. Spalletta, G. Spottke, A. Squassina, A. Stordal, E. Tartan, J.P. Tárraga, L. Tesí, N. Thalamuthu, A. Thomas, T. Tosto, G. Traykov, L. Tremolizzo, L. Tybjærg-Hansen, A. Uitterlinden, A. Ullgren, A. Ulstein, I. Valero, S. Valladares, O. Broeckhoven, C.V. Vance, J. Vardarajan, B.N. van der Lugt, A. Dongen, J.V. van Rooij, J. van Swieten, J. Vandenberghe, R. Verhey, F. Vidal, J.-S. Vogelgsang, J. Vyhnalek, M. Wagner, M. Wallon, D. Wang, L.-S. Wang, R. Weinhold, L. Wiltfang, J. Windle, G. Woods, B. Yannakoulia, M. Zare, H. Zhao, Y. Zhang, X. Zhu, C. Zulaica, M. Farrer, L.A. Psaty, B.M. Ghanbari, M. Raj, T. Sachdev, P. Mather, K. Jessen, F. Ikram, M.A. de Mendonça, A. Hort, J. Tsolaki, M. Pericak-Vance, M.A. Amouyel, P. Williams, J. Frikke-Schmidt, R. Clarimon, J. Deleuze, J.-F. Rossi, G. Seshadri, S. Andreassen, O.A. Ingelsson, M. Hiltunen, M. Sleegers, K. Schellenberg, G.D. van Duijn, C.M. Sims, R. van der Flier, W.M. Ruiz, A. Ramirez, A. Lambert, J.-C. EADB GR@ACE DEGESCO EADI GERAD Demgene FinnGen ADGC CHARGE
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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. © 2022. The Author(s).
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- 2022
29. Public service motivation and human resource management
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Ripoll, G. and Adrian Ritz
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- 2021
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30. Sleep quality in individuals with post-COVID-19 condition: Relation with emotional, cognitive and functional variables
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Carnes-Vendrell, A., Piñol-Ripoll, G., Ariza, M., Cano, N., Segura, B., Junque, C., Béjar, J., Barrue, C., Arauzo, Vanesa, Bernia, Jose A., Balague-Marmaña, Marta, Valles-Pauls, Berta, Gonzalez-Aguado, Ester, Tayó-Juli, Carme, Forcadell-Ferreres, Eva, Reverte-Vilarroya, Silvia, Forné, Susanna, Bartes-Plans, Anna, Muñoz-Padros, Jordina, Muñoz-Moreno, Jose A., Prats-Paris, Anna, Rico, Inmaculada, Sabé, Nuria, Almeria, Marta, Casas, Laura, Ciudad, Maria José, Ferré, Anna, Garzon, Tamar, Cullell, Marta, Vega, Sonia, Alsina, Sílvia, Maldonado-Belmonte, Maria J., Vazquez-Rivera, Susana, Baillès, Eva, Navarro, Sandra, and Garolera, M.
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The study aimed to assess sleep quality in PCC patients and its predictors by analysing its relationship with emotional, cognitive and functional variables, as well as possible differences based on COVID-19 severity. We included 368 individuals with PCC and 123 healthy controls (HCs) from the NAUTILUS Project (NCT05307549 and NCT05307575). We assessed sleep quality (Pittsburgh Sleep Quality Index, PSQI), anxiety (Generalized Anxiety Disorder, GAD-7), depression (Patient Health Questionnaire, PHQ-9), global cognition (Montreal Cognitive Assessment, MoCA), everyday memory failures (Memory Failures of Everyday Questionnaire, MFE-30), fatigue (Chadler Fatigue Questionnaire, CFQ), quality of life (European Quality of Life-5 Dimensions, EQ-5D), and physical activity levels (International Physical Activity Questionnaire, IPAQ). 203 were nonhospitalized, 83 were hospitalized and 82 were admitted to the intensive care unit (ICU). We found statistically significant differences in the PSQI total score between the PCC and HC groups (p < 0.0001), but there were no differences among the PCC groups. In the multiple linear regressions, the PHQ-9 score was a predictor of poor sleep quality for mild PCC patients (p = 0.003); GAD-7 (p = 0.032) and EQ-5D (p = 0.011) scores were predictors of poor sleep quality in the hospitalized PCC group; and GAD-7 (p = 0.045) and IPAQ (p = 0.005) scores were predictors of poor sleep quality in the group of ICU-PCC. These results indicate that worse sleep quality is related to higher levels of depression and anxiety, worse quality of life and less physical activity. Therapeutic strategies should focus on these factors to have a positive impact on the quality of sleep.
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- 2024
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31. Genetic Associations between Modifiable Risk Factors and Alzheimer Disease
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Luo, Jiao, Thomassen, Jesper Qvist, Bellenguez, Céline, Grenier-Boley, Benjamin, de Rojas, Itziar, Castillo, Atahualpa, Parveen, Kayenat, Küçükali, Fahri, Nicolas, Aude, Peters, Oliver, Schneider, Anja, Dichgans, Martin, Rujescu, Dan, Scherbaum, Norbert, Jürgen, Deckert, Riedel-Heller, Steffi, Hausner, Lucrezia, Porcel, Laura Molina, Düzel, Emrah, Grimmer, Timo, Wiltfang, Jens, Heilmann-Heimbach, Stefanie, Moebus, Susanne, Tegos, Thomas, Scarmeas, Nikolaos, Clarimon, Jordi, Moreno, Fermin, Pérez-Tur, Jordi, Bullido, María J., Pastor, Pau, Sánchez-Valle, Raquel, Álvarez, Victoria, Boada, Mercè, García-González, Pablo, Puerta, Raquel, Mir, Pablo, Real, Luis M., Piñol-Ripoll, Gerard, García-Alberca, Jose María, Royo, Jose Luís, Rodriguez-Rodriguez, Eloy, Soininen, Hilkka, Kuulasmaa, Teemu, De Mendonça, Alexandre, Mehrabian, Shima, Hort, Jakub, Vyhnalek, Martin, van der Lee, Sven, Graff, Caroline, Papenberg, Goran, Giedraitis, Vilmantas, Boland, Anne, Bacq-Daian, Delphine, Deleuze, Jean-François, Nicolas, Gael, Dufouil, Carole, Pasquier, Florence, Hanon, Olivier, Debette, Stéphanie, Grünblatt, Edna, Popp, Julius, Benussi, Luisa, Galimberti, Daniela, Arosio, Beatrice, Mecocci, Patrizia, Solfrizzi, Vincenzo, Parnetti, Lucilla, Squassina, Alessio, Tremolizzo, Lucio, Borroni, Barbara, Nacmias, Benedetta, Sorbi, Sandro, Caffarra, Paolo, Seripa, Davide, Rainero, Innocenzo, Daniele, Antonio, Masullo, Carlo, Spalletta, Gianfranco, Williams, Julie, Amouyel, Philippe, Jessen, Frank, Kehoe, Patrick, Magda, Tsolaki, Rossi, Giacomina, Sánchez-Juan, Pascual, Sleegers, Kristel, Ingelsson, Martin, Andreassen, Ole A., Hiltunen, Mikko, Van Duijn, Cornelia, Sims, Rebecca, van der Flier, Wiesje, Ruiz, Agustín, Ramirez, Alfredo, Lambert, Jean-Charles, Frikke-Schmidt, Ruth, Epidemiology, Repositório da Universidade de Lisboa, Luo, J, Thomassen, J, Bellenguez, C, Grenier-Boley, B, de Rojas, I, Castillo, A, Parveen, K, Küçükali, F, Nicolas, A, Peters, O, Schneider, A, Dichgans, M, Rujescu, D, Scherbaum, N, Jürgen, D, Riedel-Heller, S, Hausner, L, Porcel, L, Düzel, E, Grimmer, T, Wiltfang, J, Heilmann-Heimbach, S, Moebus, S, Tegos, T, Scarmeas, N, Clarimon, J, Moreno, F, Pérez-Tur, J, Bullido, M, Pastor, P, Sánchez-Valle, R, Álvarez, V, Boada, M, García-González, P, Puerta, R, Mir, P, Real, L, Piñol-Ripoll, G, García-Alberca, J, Royo, J, Rodriguez-Rodriguez, E, Soininen, H, Kuulasmaa, T, de Mendonça, A, Mehrabian, S, Hort, J, Vyhnalek, M, van der Lee, S, Graff, C, Papenberg, G, Giedraitis, V, Boland, A, Bacq-Daian, D, Deleuze, J, Nicolas, G, Dufouil, C, Pasquier, F, Hanon, O, Debette, S, Grünblatt, E, Popp, J, Benussi, L, Galimberti, D, Arosio, B, Mecocci, P, Solfrizzi, V, Parnetti, L, Squassina, A, Tremolizzo, L, Borroni, B, Nacmias, B, Sorbi, S, Caffarra, P, Seripa, D, Rainero, I, Daniele, A, Masullo, C, Spalletta, G, Williams, J, Amouyel, P, Jessen, F, Kehoe, P, Magda, T, Rossi, G, Sánchez-Juan, P, Sleegers, K, Ingelsson, M, Andreassen, O, Hiltunen, M, Van Duijn, C, Sims, R, van der Flier, W, Ruiz, A, Ramirez, A, Lambert, J, Frikke-Schmidt, R, Human genetics, Neurology, Amsterdam Neuroscience - Neurodegeneration, VU University medical center, Epidemiology and Data Science, APH - Methodology, and APH - Personalized Medicine
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MED/26 - NEUROLOGIA ,Settore MED/26 - NEUROLOGIA ,Alzheimer Disease ,Modifiable Risk Factors ,Genetic Associations ,Medizin ,genetics, Alzheimer's disease, risk factors - Abstract
© 2023 European Alzheimer’s & Dementia Biobank Mendelian Randomization (EADB-MR) Collaboration. JAMA Network Open. Open Access: This is an open access article distributed under the terms of the CC-BY License, Importance: An estimated 40% of dementia is potentially preventable by modifying 12 risk factors throughout the life course. However, robust evidence for most of these risk factors is lacking. Effective interventions should target risk factors in the causal pathway to dementia. Objective: To comprehensively disentangle potentially causal aspects of modifiable risk factors for Alzheimer disease (AD) to inspire new drug targeting and improved prevention. Design, setting, and participants: This genetic association study was conducted using 2-sample univariable and multivariable mendelian randomization. Independent genetic variants associated with modifiable risk factors were selected as instrumental variables from genomic consortia. Outcome data for AD were obtained from the European Alzheimer & Dementia Biobank (EADB), generated on August 31, 2021. Main analyses were conducted using the EADB clinically diagnosed end point data. All analyses were performed between April 12 and October 27, 2022. Exposures: Genetically determined modifiable risk factors. Main outcomes and measures: Odds ratios (ORs) and 95% CIs for AD were calculated per 1-unit change of genetically determined risk factors. Results: The EADB-diagnosed cohort included 39 106 participants with clinically diagnosed AD and 401 577 control participants without AD. The mean age ranged from 72 to 83 years for participants with AD and 51 to 80 years for control participants. Among participants with AD, 54% to 75% were female, and among control participants, 48% to 60% were female. Genetically determined high-density lipoprotein (HDL) cholesterol concentrations were associated with increased odds of AD (OR per 1-SD increase, 1.10 [95% CI, 1.05-1.16]). Genetically determined high systolic blood pressure was associated with increased risk of AD after adjusting for diastolic blood pressure (OR per 10-mm Hg increase, 1.22 [95% CI, 1.02-1.46]). In a second analysis to minimize bias due to sample overlap, the entire UK Biobank was excluded from the EADB consortium; odds for AD were similar for HDL cholesterol (OR per 1-SD unit increase, 1.08 [95% CI, 1.02-1.15]) and systolic blood pressure after adjusting for diastolic blood pressure (OR per 10-mm Hg increase, 1.23 [95% CI, 1.01-1.50]). Conclusions and relevance: This genetic association study found novel genetic associations between high HDL cholesterol concentrations and high systolic blood pressure with higher risk of AD. These findings may inspire new drug targeting and improved prevention implementation., Dr Frikke-Schmidt was funded by grants from the Lundbeck Foundation (grant No. R278-2018-804), the Danish Heart Foundation, and Innovation Fund Denmark (grant No. 9084-00020B).
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- 2023
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32. Association of Rare APOE Missense Variants V236E and R251G with Risk of Alzheimer Disease
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Le Guen, Yann, Belloy, Michael E, Eger, Sarah J, Mir, Pablo, Moreno, Fermin, Pastor, Pau, Piñol-Ripoll, Gerard, Molina-Porcel, Laura, Pérez-Tur, Jordi, Rodríguez-Rodríguez, Eloy, Royo, Jose Luís, Sánchez-Valle, Raquel, Dichgans, Martin, Rasmussen, Katrine Laura, Rujescu, Dan, Thomassen, Jesper Qvist, Deleuze, Jean-François, He, Zihuai, Napolioni, Valerio, Amouyel, Philippe, Jessen, Frank, Kehoe, Patrick Gavin, van Duijn, Cornelia, Grenier-Boley, Benjamin, Tsolaki, Magda, Sánchez-Juan, Pascual, Sleegers, Kristel, Ingelsson, Martin, Rossi, Giacomina, Hiltunen, Mikko, Sims, Rebecca, van der Flier, Wiesje M, Ramirez, Alfredo, Andreassen, Ole A, de Rojas, Itziar, Frikke-Schmidt, Ruth, Williams, Julie, Ruiz, Agustín, Lambert, Jean-Charles, Greicius, Michael D, Members of the EADB, GR@ACE, DEGESCO, DemGene, GERAD, Groups, EADI, Arosio, Beatrice, Benussi, Luisa, Boland, Anne, Castillo-Morales, Atahualpa, Borroni, Barbara, Caffarra, Paolo, Daian, Delphine, Daniele, Antonio, Debette, Stéphanie, Dufouil, Carole, Düzel, Emrah, Galimberti, Daniela, Giedraitis, Vilmantas, Grimmer, Timo, Jansen, Iris, Graff, Caroline, Grünblatt, Edna, Hanon, Olivier, Hausner, Lucrezia, Heilmann-Heimbach, Stefanie, Holstege, Henne, Hort, Jakub, Jürgen, Deckert, Kuulasmaa, Teemu, van der Lugt, Aad, Nicolas, Aude, Masullo, Carlo, Mecocci, Patrizia, Mehrabian, Shima, de Mendonça, Alexandre, Moebus, Susanne, Nacmias, Benedetta, Nicolas, Gael, Olaso, Robert, Papenberg, Goran, Parnetti, Lucilla, Bellenguez, Céline, Pasquier, Florence, Peters, Oliver, Pijnenburg, Yolande A L, Popp, Julius, Rainero, Innocenzo, Ramakers, Inez, Riedel-Heller, Steffi, Scarmeas, Nikolaos, Scheltens, Philip, Scherbaum, Norbert, Dalmasso, Carolina, Schneider, Anja, Seripa, Davide, Soininen, Hilkka, Solfrizzi, Vincenzo, Spalletta, Gianfranco, Squassina, Alessio, van Swieten, John, Tegos, Thomas J, Tremolizzo, Lucio, Verhey, Frans, Küçükali, Fahri, Vyhnalek, Martin, Wiltfang, Jens, Boada, Mercè, García-González, Pablo, Puerta, Raquel, Real, Luis M, Álvarez, Victoria, Bullido, María J, Clarimon, Jordi, García-Alberca, José María, Neurology, Amsterdam Neuroscience - Neurodegeneration, VU University medical center, APH - Personalized Medicine, APH - Methodology, National Institutes of Health (US), National Institute on Aging (US), European Research Council, Pérez-Tur, Jordi [0000-0002-9111-1712], RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Psychology 2, Psychiatrie & Neuropsychologie, MUMC+: MA Med Staf Spec Psychiatrie (9), Le Guen, Y, Belloy, M, Grenier-Boley, B, de Rojas, I, Castillo-Morales, A, Jansen, I, Nicolas, A, Bellenguez, C, Dalmasso, C, Küçükali, F, Eger, S, Rasmussen, K, Thomassen, J, Deleuze, J, He, Z, Napolioni, V, Amouyel, P, Jessen, F, Kehoe, P, van Duijn, C, Tsolaki, M, Sánchez-Juan, P, Sleegers, K, Ingelsson, M, Rossi, G, Hiltunen, M, Sims, R, van der Flier, W, Ramirez, A, Andreassen, O, Frikke-Schmidt, R, Williams, J, Ruiz, A, Lambert, J, Greicius, M, Arosio, B, Benussi, L, Boland, A, Borroni, B, Caffarra, P, Daian, D, Daniele, A, Debette, S, Dufouil, C, Düzel, E, Galimberti, D, Giedraitis, V, Grimmer, T, Graff, C, Grünblatt, E, Hanon, O, Hausner, L, Heilmann-Heimbach, S, Holstege, H, Hort, J, Jürgen, D, Kuulasmaa, T, van der Lugt, A, Masullo, C, Mecocci, P, Mehrabian, S, de Mendonça, A, Moebus, S, Nacmias, B, Nicolas, G, Olaso, R, Papenberg, G, Parnetti, L, Pasquier, F, Peters, O, Pijnenburg, Y, Popp, J, Rainero, I, Ramakers, I, Riedel-Heller, S, Scarmeas, N, Scheltens, P, Scherbaum, N, Schneider, A, Seripa, D, Soininen, H, Solfrizzi, V, Spalletta, G, Squassina, A, van Swieten, J, Tegos, T, Tremolizzo, L, Verhey, F, Vyhnalek, M, Wiltfang, J, Boada, M, García-González, P, Puerta, R, Real, L, Álvarez, V, Bullido, M, Clarimon, J, García-Alberca, J, Mir, P, Moreno, F, Pastor, P, Piñol-Ripoll, G, Molina-Porcel, L, Pérez-Tur, J, Rodríguez-Rodríguez, E, Royo, J, Sánchez-Valle, R, Dichgans, M, Rujescu, D, Epidemiology, Radiology & Nuclear Medicine, Graduate School, Medical Psychology, APH - Quality of Care, Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), EADB Group, GR@ACE Groupp, DEGESCO Group, DemGene Group, GERAD Group, EADI Group, Repositório da Universidade de Lisboa, and Pérez-Tur, Jordi
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Male ,Genotype ,Apolipoprotein E2 ,epidemiology [Alzheimer Disease] ,Apolipoprotein E4 ,Medizin ,genetics [Alzheimer Disease] ,APOLIPOPROTEIN-E ,Apolipoproteins E ,Settore BIO/13 - Biologia Applicata ,Alzheimer Disease ,genetics [Apolipoprotein E2] ,Humans ,BEHAVIORAL DEFICITS ,ddc:610 ,Age of Onset ,PROGRESS ,Alleles ,genetics [Apolipoprotein E4] ,Alzheimer's disease, genetics, APOE, risk factor ,A-BETA ,Original Investigation ,Settore MED/26 - NEUROLOGIA ,ALLELE ,genetics [Apolipoproteins E] ,[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie ,Female ,INFERENCE ,Neurology (clinical) ,Human medicine - Abstract
34 páginas, 2 tablas, 2 figuras. 2 ficheros con material suplementario. Data used in preparation of this manuscript can be obtained upon application at: - dbGaP (https://www.ncbi.nlm.nih.gov/gap/advanced_search/) - NIAGADS and NIAGADS DSS (https://www.niagads.org/) - LONI (https://ida.loni.usc.edu/) - Synapse (https://adknowledgeportal.synapse.org/) - RADC Rush (https://www.radc.rush.edu/) - NACC (https://naccdata.org/) - UK Biobank (https://biobank.ndph.ox.ac.uk/showcase/), The APOE ε2 and APOE ε4 alleles are the strongest protective and risk-increasing, respectively, genetic variants for late-onset Alzheimer disease (AD). However, the mechanisms linking APOE to AD-particularly the apoE protein's role in AD pathogenesis and how this is affected by APOE variants-remain poorly understood. Identifying missense variants in addition to APOE ε2 and APOE ε4 could provide critical new insights, but given the low frequency of additional missense variants, AD genetic cohorts have previously been too small to interrogate this question robustly., This work was supported by the National Institute of Health and National Institute of Aging grants AG060747 (MDG), AG066206 (ZH), AG066515 (ZH, MDG), the European Union’s Horizon 2020 research and innovation program under the Marie Skłodowska-Curie (grant agreement No. 890650, YLG), the Alzheimer’s Association (AARF-20-683984, MEB), and the Iqbal Farrukh and Asad Jamal Fund, a grant from the EU Joint Programme – Neurodegenerative Disease Research (European Alzheimer DNA BioBank, EADB; JPND). Inserm UMR1167 is also funded by the Inserm, Institut Pasteur de Lille, Lille Métropole Communauté Urbaine, and the French government’s LABEX DISTALZ program (development of innovative strategies for a transdisciplinary approach to Alzheimer’s disease). EADB thank the study participants, researchers, and staff for collecting and contributing to the data, the high-performance computing service at the University of Lille, and the staff at CEA-CNRGH for their help with sample preparation and genotyping, and technical assistance. Additional funders of individual investigators and institutions who contributed to data collection and genotyping are provided in the Supplemental Online Content.
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- 2022
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33. Pla d’atenció sanitària a les persones amb deteriorament cognitiu lleu i demència de Catalunya (PLADEMCAT)
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Bullich-Marín, Íngrid, Cañabate, Pilar, Casablancas Figueras, Sira, Cuevas-Esteban, Jorge, Forné, Susanna, Llado Plarrumani, Albert, Lozano Moreno, Dolors, Pinyol Ripoll, Gerard, Roy Millán, Pedro, Garcia-Sabaté, Anna, Pablo Reyes, Sara, [Bullich Marín I] Corporació Consorci Parc Taulí, Sabadell, Spain. [Cañabate González MP] Fundació ACE, Barcelona, Spain. [Casablancas Figueras S] Consorci d'Atenció Primària de Salut de l'Eixample (CAPSBE], Barcelona, Spain. [Cuevas Esteban J, Pablo Reyes S] Institut Català de la Salut (ICS), Departament de Salut, Generalitat de Catalunya, Barcelona, Spain. [Forné González S] Fundació Sant Hospital, La Seu d’Urgell, Spain. [Lladó Plarrumaní A] Hospital Clínic i Provincial de Barcelona, Barcelona, Spain. [Lozano Moreno D] Consorci Sanitari Integral (CSI), L’Hospitalet de Llobregat, Spain. [Pinyol Ripoll G] Gestió Serveis Sanitaris, Departament de Salut, Generalitat de Catalunya, Barcelona, Spain. [Roy Millán P] Germanes Hospitalàries, Martorell, Spain. [Sabaté García RM] Parc de Salut Mar, Departament de Salut, Generalitat de Catalunya, Barcelona, Spain, and Departament de Salut
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Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Dementia [DISEASES] ,enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::demencia [ENFERMEDADES] ,Assistència sanitària - Planificació ,Mental Disorders::Neurocognitive Disorders::Cognition Disorders::Cognitive Dysfunction [PSYCHIATRY AND PSYCHOLOGY] ,Deteriorament cognitiu lleu ,administración de los servicios de salud::gestión de la atención al paciente::prestación sanitaria [ATENCIÓN DE SALUD] ,Demència ,Health Services Administration::Patient Care Management::Delivery of Health Care [HEALTH CARE] ,trastornos mentales::trastornos neurocognitivos::trastornos cognitivos::disfunción cognitiva [PSIQUIATRÍA Y PSICOLOGÍA] - Abstract
Atenció sanitària; Deteriorament cognitiu; Salut pública Atención sanitaria; Deterioro cognitivo; Salud pública Health care; Cognitive impairment; Public health El Pla d’atenció sanitària a les persones amb deteriorament cognitiu lleu i demència de Catalunya, PLADEMCAT, està conformat per tres documents íntimament relacionats: estat de situació, model d’atenció i operativa. Tots tres tenen una estructura comuna corresponent a les diferents fases evolutives de les demències: la prevenció, el diagnòstic, el tractament integral i l’atenció al llarg de l’evolució de tota la malaltia fins a la fase de demència avançada i final de la vida de les persones. Així, en els tres documents hi ha els mateixos apartats, amb l’objectiu de mantenir un fil conductor comú. Aquest projecte ha estat financiat a càrrec dels fons per a les estratègies 2019 del Ministerio de Sanidad, Consumo y Bienestar Social que vàren ser aprovats en el CISNS de data 13 de desembre de 2019, com a recolzament a la implemenció de la estratègia davant les patologies neurodegeneratives (inclosa ELA).
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- 2022
34. X-chromosome-wide association study for Alzheimer's disease.
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Le Borgne J, Gomez L, Heikkinen S, Amin N, Ahmad S, Choi SH, Bis J, Grenier-Boley B, Rodriguez OG, Kleineidam L, Young J, Tripathi KP, Wang L, Varma A, Campos-Martin R, van der Lee S, Damotte V, de Rojas I, Palmal S, Lipton R, Reiman E, McKee A, De Jager P, Bush W, Small S, Levey A, Saykin A, Foroud T, Albert M, Hyman B, Petersen R, Younkin S, Sano M, Wisniewski T, Vassar R, Schneider J, Henderson V, Roberson E, DeCarli C, LaFerla F, Brewer J, Swerdlow R, Van Eldik L, Hamilton-Nelson K, Paulson H, Naj A, Lopez O, Chui H, Crane P, Grabowski T, Kukull W, Asthana S, Craft S, Strittmatter S, Cruchaga C, Leverenz J, Goate A, Kamboh MI, George-Hyslop PS, Valladares O, Kuzma A, Cantwell L, Riemenschneider M, Morris J, Slifer S, Dalmasso C, Castillo A, Küçükali F, Peters O, Schneider A, Dichgans M, Rujescu D, Scherbaum N, Deckert J, Riedel-Heller S, Hausner L, Molina-Porcel L, Düzel E, Grimmer T, Wiltfang J, Heilmann-Heimbach S, Moebus S, Tegos T, Scarmeas N, Dols-Icardo O, Moreno F, Pérez-Tur J, Bullido MJ, Pastor P, Sánchez-Valle R, Álvarez V, Boada M, García-González P, Puerta R, Mir P, Real LM, Piñol-Ripoll G, García-Alberca JM, Royo JL, Rodriguez-Rodriguez E, Soininen H, de Mendonça A, Mehrabian S, Traykov L, Hort J, Vyhnalek M, Thomassen JQ, Pijnenburg YAL, Holstege H, van Swieten J, Ramakers I, Verhey F, Scheltens P, Graff C, Papenberg G, Giedraitis V, Boland A, Deleuze JF, Nicolas G, Dufouil C, Pasquier F, Hanon O, Debette S, Grünblatt E, Popp J, Ghidoni R, Galimberti D, Arosio B, Mecocci P, Solfrizzi V, Parnetti L, Squassina A, Tremolizzo L, Borroni B, Nacmias B, Spallazzi M, Seripa D, Rainero I, Daniele A, Bossù P, Masullo C, Rossi G, Jessen F, Fernandez V, Kehoe PG, Frikke-Schmidt R, Tsolaki M, Sánchez-Juan P, Sleegers K, Ingelsson M, Haines J, Farrer L, Mayeux R, Wang LS, Sims R, DeStefano A, Schellenberg GD, Seshadri S, Amouyel P, Williams J, van der Flier W, Ramirez A, Pericak-Vance M, Andreassen OA, Van Duijn C, Hiltunen M, Ruiz A, Dupuis J, Martin E, Lambert JC, Kunkle B, and Bellenguez C
- Abstract
Due to methodological reasons, the X-chromosome has not been featured in the major genome-wide association studies on Alzheimer's Disease (AD). To address this and better characterize the genetic landscape of AD, we performed an in-depth X-Chromosome-Wide Association Study (XWAS) in 115,841 AD cases or AD proxy cases, including 52,214 clinically-diagnosed AD cases, and 613,671 controls. We considered three approaches to account for the different X-chromosome inactivation (XCI) states in females, i.e. random XCI, skewed XCI, and escape XCI. We did not detect any genome-wide significant signals (P ≤ 5 × 10
- 8 ) but identified seven X-chromosome-wide significant loci (P ≤ 1.6 × 10- 6 ). The index variants were common for the Xp22.32, FRMPD4, DMD and Xq25 loci, and rare for the WNK3, PJA1, and DACH2 loci. Overall, this well-powered XWAS found no genetic risk factors for AD on the non-pseudoautosomal region of the X-chromosome, but it identified suggestive signals warranting further investigations., Competing Interests: Competing interests: The authors declare no competing interests. Ethics approval and consent to participate: Written informed consent was obtained from study participants or, for those with substantial cognitive impairment, a caregiver, legal guardian or other proxy. Study protocols for all cohorts were reviewed and approved by the appropriate institutional review boards., (© 2024. The Author(s).)- Published
- 2024
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35. Alzheimer's Disease Detection in EEG Sleep Signals.
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Gallego-Vinaras L, Mira-Tomas JM, Gaeta AM, Pinol-Ripoll G, Barbe F, Olmos PM, and Munoz-Barrutia A
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Alzheimer's disease (AD) and sleep disorders exhibit a close association, where disruptions in sleep patterns often precede the onset of Mild Cognitive Impairment (MCI) and early-stage AD. This study delves into the potential of utilizing sleep-related electroencephalography (EEG) signals acquired through polysomnography (PSG) for the early detection of AD. Our primary focus is on exploring semi-supervised Deep Learning techniques for the classification of EEG signals due to the clinical scenario characterized by the limited data availability. The methodology entails testing and comparing the performance of semi-supervised models, benchmarked against an unsupervised and a supervised model. The study highlights the significance of spatial and temporal analysis capabilities, conducting independent analyses of each sleep stage. Results demonstrate the effectiveness of one semi-supervised model in leveraging limited labeled data, achieving stable metrics across all sleep stages, and reaching 90% accuracy in its supervised form. Comparative analyses reveal this superior performance over the unsupervised model, while the supervised model ranges between 92-94% . These findings underscore the potential of semi-supervised models in early AD detection, particularly in overcoming the challenges associated with the scarcity of labeled data. Ablation tests affirm the critical role of spatio-temporal feature extraction in semi-supervised predictive performance, and t-SNE visualizations validate the model's proficiency in distinguishing AD patterns. Overall, this research contributes to the advancement of AD detection through innovative Deep Learning approaches, highlighting the crucial role of semi-supervised learning in addressing data limitations.
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- 2024
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36. Connecting genomic and proteomic signatures of amyloid burden in the brain.
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Puerta R, de Rojas I, García-González P, Olivé C, Sotolongo-Grau O, García-Sánchez A, García-Gutiérrez F, Montrreal L, Pablo Tartari J, Sanabria Á, Pytel V, Lage C, Quintela I, Aguilera N, Rodriguez-Rodriguez E, Alarcón-Martín E, Orellana A, Pastor P, Pérez-Tur J, Piñol-Ripoll G, de Munian AL, García-Alberca JM, Royo JL, Bullido MJ, Álvarez V, Real LM, Anchuelo AC, Gómez-Garre D, Larrad MTM, Franco-Macías E, Mir P, Medina M, Sánchez-Valle R, Dols-Icardo O, Sáez ME, Carracedo Á, Tárraga L, Alegret M, Valero S, Marquié M, Boada M, Juan PS, Cavazos JE, Cabrera A, and Cano A
- Abstract
Background: Alzheimer's disease (AD) has a high heritable component characteristic of complex diseases, yet many of the genetic risk factors remain unknown. We combined genome-wide association studies (GWAS) on amyloid endophenotypes measured in cerebrospinal fluid (CSF) and positron emission tomography (PET) as surrogates of amyloid pathology, which may be helpful to understand the underlying biology of the disease., Methods: We performed a meta-analysis of GWAS of CSF Aβ42 and PET measures combining six independent cohorts (n=2,076). Due to the opposite effect direction of Aβ phenotypes in CSF and PET measures, only genetic signals in the opposite direction were considered for analysis (n=376,599). Polygenic risk scores (PRS) were calculated and evaluated for AD status and amyloid endophenotypes. We then searched the CSF proteome signature of brain amyloidosis using SOMAscan proteomic data (Ace cohort, n=1,008) and connected it with GWAS results of loci modulating amyloidosis. Finally, we compared our results with a large meta-analysis using publicly available datasets in CSF (n=13,409) and PET (n=13,116). This combined approach enabled the identification of overlapping genes and proteins associated with amyloid burden and the assessment of their biological significance using enrichment analyses., Results: After filtering the meta-GWAS, we observed genome-wide significance in the rs429358- APOE locus and nine suggestive hits were annotated. We replicated the APOE loci using the large CSF-PET meta-GWAS and identified multiple AD-associated genes as well as the novel GADL1 locus. Additionally, we found a significant association between the AD PRS and amyloid levels, whereas no significant association was found between any Aβ PRS with AD risk. CSF SOMAscan analysis identified 1,387 FDR-significant proteins associated with CSF Aβ42 levels. The overlap among GWAS loci and proteins associated with amyloid burden was very poor (n=35). The enrichment analysis of overlapping hits strongly suggested several signalling pathways connecting amyloidosis with the anchored component of the plasma membrane, synapse physiology and mental disorders that were replicated in the large CSF-PET meta-analysis., Conclusions: The strategy of combining CSF and PET amyloid endophenotypes GWAS with CSF proteome analyses might be effective for identifying signals associated with the AD pathological process and elucidate causative molecular mechanisms behind the amyloid mobilization in AD., Competing Interests: Competing interests All authors declare that the research was conducted in the absence of any conflict of interest.
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- 2024
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37. Predicting Alzheimer's disease CSF core biomarkers: a multimodal Machine Learning approach.
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Gaeta AM, Quijada-López M, Barbé F, Vaca R, Pujol M, Minguez O, Sánchez-de-la-Torre M, Muñoz-Barrutia A, and Piñol-Ripoll G
- Abstract
Introduction: Alzheimer's disease (AD) is a progressive neurodegenerative disorder. Current core cerebrospinal fluid (CSF) AD biomarkers, widely employed for diagnosis, require a lumbar puncture to be performed, making them impractical as screening tools. Considering the role of sleep disturbances in AD, recent research suggests quantitative sleep electroencephalography features as potential non-invasive biomarkers of AD pathology. However, quantitative analysis of comprehensive polysomnography (PSG) signals remains relatively understudied. PSG is a non-invasive test enabling qualitative and quantitative analysis of a wide range of parameters, offering additional insights alongside other biomarkers. Machine Learning (ML) gained interest for its ability to discern intricate patterns within complex datasets, offering promise in AD neuropathology detection. Therefore, this study aims to evaluate the effectiveness of a multimodal ML approach in predicting core AD CSF biomarkers., Methods: Mild-moderate AD patients were prospectively recruited for PSG, followed by testing of CSF and blood samples for biomarkers. PSG signals underwent preprocessing to extract non-linear, time domain and frequency domain statistics quantitative features. Multiple ML algorithms were trained using four subsets of input features: clinical variables (CLINVAR), conventional PSG parameters (SLEEPVAR), quantitative PSG signal features (PSGVAR) and a combination of all subsets (ALL). Cross-validation techniques were employed to evaluate model performance and ensure generalizability. Regression models were developed to determine the most effective variable combinations for explaining variance in the biomarkers., Results: On 49 subjects, Gradient Boosting Regressors achieved the best results in estimating biomarkers levels, using different loss functions for each biomarker: least absolute deviation (LAD) for the A β 42, least squares (LS) for p -tau and Huber for t -tau. The ALL subset demonstrated the lowest training errors for all three biomarkers, albeit with varying test performance. Specifically, the SLEEPVAR subset yielded the best test performance in predicting A β 42, while the ALL subset most accurately predicted p -tau and t -tau due to the lowest test errors., Conclusions: Multimodal ML can help predict the outcome of CSF biomarkers in early AD by utilizing non-invasive and economically feasible variables. The integration of computational models into medical practice offers a promising tool for the screening of patients at risk of AD, potentially guiding clinical decisions., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Gaeta, Quijada-López, Barbé, Vaca, Pujol, Minguez, Sánchez-de-la-Torre, Muñoz-Barrutia and Piñol-Ripoll.)
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- 2024
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38. The shift in the fatty acid composition of the circulating lipidome in Alzheimer's disease.
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Dakterzada F, Jové M, Cantero JL, Mota-Martorell N, Pamplona R, and Piñoll-Ripoll G
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- Humans, Male, Female, Aged, Cognitive Dysfunction blood, Cognitive Dysfunction cerebrospinal fluid, Biomarkers blood, Biomarkers cerebrospinal fluid, Docosahexaenoic Acids blood, Docosahexaenoic Acids cerebrospinal fluid, Middle Aged, Alzheimer Disease blood, Alzheimer Disease cerebrospinal fluid, Fatty Acids blood, Fatty Acids cerebrospinal fluid, Lipidomics, Disease Progression
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Introduction: Fatty acids (FAs) are the building blocks of complex lipids and signaling compounds; the role of the lipidome fatty acid profile (LFA) in AD progression remains unclear., Methods: The LFA of plasma and cerebrospinal fluid (CSF) samples from 289 participants (103 AD patients, 92 MCI patients, and 94 controls) was determined by GC-FID. The MCI subjects were followed up for 58 ± 12.5 months., Results: In controls, CSF has a more neuroprotective LFA than plasma. In CSF, a higher content of docosahexaenoic acid was associated with a reduced risk of MCI-to-AD progression. In plasma, higher oleic acid content was associated with lower risk of AD, MCI, and MCI-to-AD progression, whereas higher levels of vaccenic acid and docosahexaenoic acid were associated with greater risk of AD and MCI, and higher rate of MCI-to-AD progression, respectively., Discussion: The circulating LFA is involved in the pathogenesis and progression of AD., Highlights: The lipidome fatty acid profile in CSF and plasma was markedly different. Higher levels of vaccenic acid and lower levels of oleic acid in plasma were associated with greater risk of Alzheimer's disease. In plasma, higher levels of oleic acid were associated with a reduced risk of MCI-to-AD progression. Higher levels of docosahexaenoic acid in CSF were associated with a lower risk of MCI-to-AD progression. Higher levels of docosahexaenoic acid in plasma were associated with a greater rate of MCI-to-AD progression., (© 2024 The Authors. Alzheimer's & Dementia published by Wiley Periodicals LLC on behalf of Alzheimer's Association.)
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- 2024
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39. Assessment of the Correlation and Diagnostic Accuracy between Cerebrospinal Fluid and Plasma Alzheimer's Disease Biomarkers: A Comparison of the Lumipulse and Simoa Platforms.
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Dakterzada F, Cipriani R, López-Ortega R, Arias A, Riba-Llena I, Ruiz-Julián M, Huerto R, Tahan N, Matute C, Capetillo-Zarate E, and Piñol-Ripoll G
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- Humans, Male, Female, Aged, Middle Aged, Peptide Fragments cerebrospinal fluid, Peptide Fragments blood, Aged, 80 and over, Phosphorylation, Alzheimer Disease cerebrospinal fluid, Alzheimer Disease blood, Alzheimer Disease diagnosis, Biomarkers blood, Biomarkers cerebrospinal fluid, Amyloid beta-Peptides cerebrospinal fluid, Amyloid beta-Peptides blood, tau Proteins cerebrospinal fluid, tau Proteins blood, Cognitive Dysfunction diagnosis, Cognitive Dysfunction cerebrospinal fluid, Cognitive Dysfunction blood
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We compared the clinical and analytical performance of Alzheimer's disease (AD) plasma biomarkers measured using the single-molecule array (Simoa) and Lumipulse platforms. We quantified the plasma levels of amyloid beta 42 (Aβ42), Aβ40, phosphorylated tau (Ptau181), and total tau biomarkers in 81 patients with mild cognitive impairment (MCI), 30 with AD, and 16 with non-AD dementia. We found a strong correlation between the Simoa and Lumipulse methods. Concerning the clinical diagnosis, Simoa Ptau181/Aβ42 (AUC 0.739, 95% CI 0.592-0.887) and Lumipulse Aβ42 and Ptau181/Aβ42 (AUC 0.735, 95% CI 0.589-0.882 and AUC 0.733, 95% CI 0.567-0.900) had the highest discriminating power. However, their power was significantly lower than that of CSF Aβ42/Aβ40, as measured by Lumipulse (AUC 0.879, 95% CI 0.766-0.992). Simoa Ptau181 and Lumipulse Ptau181/Aβ42 were the markers most consistent with the CSF Aβ42/Aβ40 status (AUC 0.801, 95% CI 0.712-0.890 vs. AUC 0.870, 95% CI 0.806-0.934, respectively) at the ≥2.127 and ≥0.084 cut-offs, respectively. The performance of the Simoa and Lumipulse plasma AD assays is weaker than that of CSF AD biomarkers. At present, the analysed AD plasma biomarkers may be useful for screening to reduce the number of lumbar punctures in the clinical setting.
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- 2024
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40. Cerebrospinal fluid neutral lipids predict progression from mild cognitive impairment to Alzheimer's disease.
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Dakterzada F, Jové M, Huerto R, Carnes A, Sol J, Pamplona R, and Piñol-Ripoll G
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- Humans, Amyloid beta-Peptides, tau Proteins, Tandem Mass Spectrometry, Disease Progression, Biomarkers, Peptide Fragments cerebrospinal fluid, Peptide Fragments genetics, Lipids, Alzheimer Disease diagnosis, Cognitive Dysfunction
- Abstract
Genetic, metabolic, and clinical evidence links lipid dysregulation to an increased risk of Alzheimer's disease (AD). However, the role of lipids in the pathophysiological processes of AD and its clinical progression is unclear. We investigated the association between cerebrospinal fluid (CSF) lipidome and the pathological hallmarks of AD, progression from mild cognitive impairment (MCI) to AD, and the rate of cognitive decline in MCI patients. The CSF lipidome was analyzed by liquid chromatography coupled to mass spectrometry in an LC-ESI-QTOF-MS/MS platform for 209 participants: 91 AD, 92 MCI, and 26 control participants. The MCI patients were followed up for a median of 58 (± 12.5) months to evaluate their clinical progression to AD. Forty-eight (52.2%) MCI patients progressed to AD during follow-up. We found that higher CSF levels of hexacosanoic acid and ceramide Cer(d38:4) were associated with an increased risk of amyloid beta 42 (Aβ42) positivity in CSF, while levels of phosphatidylethanolamine PE(40:0) were associated with a reduced risk. Higher CSF levels of sphingomyelin SM(30:1) were positively associated with pathological levels of phosphorylated tau in CSF. Cholesteryl ester CE(11D3:1) and an unknown lipid were recognized as the most associated lipid species with MCI to AD progression. Furthermore, TG(O-52:2) was identified as the lipid most strongly associated with the rate of progression. Our results indicate the involvement of membrane and intracellular neutral lipids in the pathophysiological processes of AD and the progression from MCI to AD dementia. Therefore, CSF neutral lipids can be used as potential prognostic markers for AD., (© 2023. The Author(s).)
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- 2024
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41. Lithium management of periodic mood fluctuations in behavioural frontotemporal dementia: a case report.
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Llorca-Bofí V, Batalla I, Ruiz-Julián M, Adrados-Pérez M, Buil-Reiné E, Piñol-Ripoll G, Gallart-Palau X, and Torrent A
- Abstract
The behavioural variant of Frontotemporal Dementia (bvFTD) is a neurodegenerative condition characterized by behavioural and cognitive symptoms. Mood disturbances, including manic-like episodes, can occur in bvFTD, posing diagnostic and therapeutic challenges. This case report presents a 62-year-old male with bvFTD exhibiting weekly mood fluctuations alternating between manic and depressive-like states. While initial treatment with quetiapine and trazodone showed partial improvement, the periodicity of mood fluctuations persisted. Subsequently, lithium was introduced, resulting in a notable reduction in symptom severity for both manic and depressive episodes. This report highlights the potential use of lithium as a mood stabilizer in bvFTD patients with periodic mood fluctuations, refractory to standard treatments. Further research is needed to elucidate the mechanisms underlying lithium's efficacy in bvFTD and to establish treatment guidelines., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Llorca-Bofí, Batalla, Ruiz-Julián, Adrados-Pérez, Buil-Reiné, Piñol-Ripoll, Gallart-Palau and Torrent.)
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- 2024
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42. Human lifespan and sex-specific patterns of resilience to disease: a retrospective population-wide cohort study.
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Sol J, Ortega-Bravo M, Portero-Otín M, Piñol-Ripoll G, Ribas-Ripoll V, Artigues-Barberà E, Butí M, Pamplona R, and Jové M
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- Male, Humans, Female, Middle Aged, Aged, 80 and over, Cohort Studies, Retrospective Studies, Aging, Longevity, Resilience, Psychological
- Abstract
Background: Slower paces of aging are related to lower risk of developing diseases and premature death. Therefore, the greatest challenge of modern societies is to ensure that the increase in lifespan is accompanied by an increase in health span. To better understand the differences in human lifespan, new insight concerning the relationship between lifespan and the age of onset of diseases, and the ability to avoid them is needed. We aimed to comprehensively study, at a population-wide level, the sex-specific disease patterns associated with human lifespan., Methods: Observational data from the SIDIAP database of a cohort of 482,058 individuals that died in Catalonia (Spain) at ages over 50 years old between the 1st of January 2006 and the 30th of June 2022 were included. The time to the onset of the first disease in multiple organ systems, the prevalence of escapers, the percentage of life free of disease, and their relationship with lifespan were evaluated considering sex-specific traits., Results: In the study cohort, 50.4% of the participants were women and the mean lifespan was 83 years. The results show novel relationships between the age of onset of disease, health span, and lifespan. The key findings include: Firstly, the onset of both single and multisystem diseases is progressively delayed as lifespan increases. Secondly, the prevalence of escapers is lower in lifespans around life expectancy. Thirdly, the number of disease-free systems decreases until individuals reach lifespans around 87-88 years old, at which point it starts to increase. Furthermore, long-lived women are less susceptible to multisystem diseases. The associations between health span and lifespan are system-dependent, and disease onset and the percentage of life spent free of disease at the time of death contribute to explaining lifespan variability. Lastly, the study highlights significant system-specific disparities between women and men., Conclusions: Health interventions focused on delaying aging and age-related diseases should be the most effective in increasing not only lifespan but also health span. The findings of this research highlight the relevance of Electronic Health Records in studying the aging process and open up new possibilities in age-related disease prevention that should assist primary care professionals in devising individualized care and treatment plans., (© 2023. The Author(s).)
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- 2024
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43. An Insertion Within SIRPβ1 Shows a Dual Effect Over Alzheimer's Disease Cognitive Decline Altering the Microglial Response.
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García-Alberca JM, de Rojas I, Sanchez-Mejias E, Garrido-Martín D, Gonzalez-Palma L, Jimenez S, Pino-Angeles A, Cruz-Gamero JM, Mendoza S, Alarcón-Martín E, Muñoz-Castro C, Real LM, Tena JJ, Polvillo R, Govantes F, Lopez A, Royo-Aguado JL, Navarro V, Gonzalez I, Ruiz M, Reyes-Engel A, Gris E, Bravo MJ, Lopez-Gutierrez L, Mejias-Ortega M, De la Guía P, López de la Rica M, Ocejo O, Torrecilla J, Zafra C, Nieto MD, Urbano C, Jiménez-Sánchez R, Pareja N, Luque M, García-Peralta M, Carrillejo R, Furniet MDC, Rueda L, Sánchez-Fernández A, Mancilla T, Peña I, García-Casares N, Moreno-Grau S, Hernández I, Montrreal L, Quintela I, González-Pérez A, Calero M, Franco-Macías E, Macías J, Menéndez-González M, Frank-García A, Huerto Vilas R, Diez-Fairen M, Lage C, García-Madrona S, García-González P, Valero S, Sotolongo-Grau O, Pérez-Cordón A, Rábano A, Arias Pastor A, Pastor AB, Espinosa A, Corma-Gómez A, Martín Montes Á, Sanabria Á, Martínez Rodríguez C, Buiza-Rueda D, Rodriguez-Rodriguez E, Ortega G, Alvarez I, Rosas Allende I, Pineda JA, Rosende-Roca M, Bernal Sánchez-Arjona M, Fernández-Fuertes M, Alegret M, Roberto N, Del Ser T, Garcia-Ribas G, Sánchez-Juan P, Pastor P, Piñol-Ripoll G, Bullido MJ, Álvarez V, Mir P, Medina M, Marquié M, Sáez ME, Carracedo Á, Laplana M, Tomas-Gallardo L, Orellana A, Tárraga L, Boada M, Fibla Palazon J, Vitorica J, Ruiz A, Guigo R, Gutierrez A, and Royo JL
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- Humans, Amyloid beta-Peptides metabolism, Microglia metabolism, Phagocytosis, Alzheimer Disease diagnostic imaging, Alzheimer Disease genetics, Cognitive Dysfunction diagnostic imaging, Cognitive Dysfunction genetics, Cognitive Dysfunction metabolism, Receptors, Cell Surface metabolism
- Abstract
Background: Microglial dysfunction plays a causative role in Alzheimer's disease (AD) pathogenesis. Here we focus on a germline insertion/deletion variant mapping SIRPβ1, a surface receptor that triggers amyloid-β(Aβ) phagocytosis via TYROBP., Objective: To analyze the impact of this copy-number variant in SIRPβ1 expression and how it affects AD molecular etiology., Methods: Copy-number variant proxy rs2209313 was evaluated in GERALD and GR@ACE longitudinal series. Hippocampal specimens of genotyped AD patients were also examined. SIRPβ1 isoform-specific phagocytosis assays were performed in HEK393T cells., Results: The insertion alters the SIRPβ1 protein isoform landscape compromising its ability to bind oligomeric Aβ and its affinity for TYROBP. SIRPβ1 Dup/Dup patients with mild cognitive impairment show an increased cerebrospinal fluid t-Tau/Aβ ratio (p = 0.018) and a higher risk to develop AD (OR = 1.678, p = 0.018). MRIs showed that Dup/Dup patients exhibited a worse initial response to AD. At the moment of diagnosis, all patients showed equivalent Mini-Mental State Examination scores. However, AD patients with the duplication had less hippocampal degeneration (p < 0.001) and fewer white matter hyperintensities. In contrast, longitudinal studies indicate that patients bearing the duplication allele show a slower cognitive decline (p = 0.013). Transcriptional analysis also shows that the SIRPβ1 duplication allele correlates with higher TREM2 expression and an increased microglial activation., Conclusions: The SIRPβ1 internal duplication has opposite effects over MCI-to-Dementia conversion risk and AD progression, affecting microglial response to Aβ. Given the pharmacological approaches focused on the TREM2-TYROBP axis, we believe that SIRPβ1 structural variant might be considered as a potential modulator of this causative pathway.
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- 2024
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44. Sleep quality in individuals with post-COVID-19 condition: Relation with emotional, cognitive and functional variables.
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Carnes-Vendrell A, Piñol-Ripoll G, Ariza M, Cano N, Segura B, Junque C, Béjar J, Barrue C, and Garolera M
- Abstract
The study aimed to assess sleep quality in PCC patients and its predictors by analysing its relationship with emotional, cognitive and functional variables, as well as possible differences based on COVID-19 severity. We included 368 individuals with PCC and 123 healthy controls (HCs) from the NAUTILUS Project (NCT05307549 and NCT05307575). We assessed sleep quality (Pittsburgh Sleep Quality Index, PSQI), anxiety (Generalized Anxiety Disorder, GAD-7), depression (Patient Health Questionnaire, PHQ-9), global cognition (Montreal Cognitive Assessment, MoCA), everyday memory failures (Memory Failures of Everyday Questionnaire, MFE-30), fatigue (Chadler Fatigue Questionnaire, CFQ), quality of life (European Quality of Life-5 Dimensions, EQ-5D), and physical activity levels (International Physical Activity Questionnaire, IPAQ). 203 were nonhospitalized, 83 were hospitalized and 82 were admitted to the intensive care unit (ICU). We found statistically significant differences in the PSQI total score between the PCC and HC groups (p < 0.0001), but there were no differences among the PCC groups. In the multiple linear regressions, the PHQ-9 score was a predictor of poor sleep quality for mild PCC patients (p = 0.003); GAD-7 (p = 0.032) and EQ-5D (p = 0.011) scores were predictors of poor sleep quality in the hospitalized PCC group; and GAD-7 (p = 0.045) and IPAQ (p = 0.005) scores were predictors of poor sleep quality in the group of ICU-PCC. These results indicate that worse sleep quality is related to higher levels of depression and anxiety, worse quality of life and less physical activity. Therapeutic strategies should focus on these factors to have a positive impact on the quality of sleep., Competing Interests: The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Maite-Garolera reports financial support was provided by Agency for Management of University and Research Grants (10.13039/501100003030AGAUR) from the 10.13039/501100002809Generalitat de Catalunya (Pandemies, 202PANDE00053) and La Marató de TV3 Foundation (202111-30-31-32). Corresponding author (Gerard Piñol-Ripoll) recieved grants from the 10.13039/501100004587Instituto de Salud Carlos III de Madrid (PI22/01687, 10.13039/501100004587ISCIII) and Agency for Management of University and Research Grants (2021SGR 00761)., (© 2024 The Authors. Published by Elsevier Inc.)
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- 2023
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45. Medical help-seeking intentions among patients with early Alzheimer's disease.
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Villarejo-Galende A, García-Arcelay E, Piñol-Ripoll G, Del Olmo-Rodríguez A, Viñuela F, Boada M, Franco-Macías E, Ibañez de la Peña A, Riverol M, Puig-Pijoan A, Abizanda-Soler P, Arroyo R, Baquero-Toledo M, Feria-Vilar I, Balasa M, Berbel Á, Rodríguez-Rodríguez E, Vieira-Campos A, Garcia-Ribas G, Rodrigo-Herrero S, Lleó A, and Maurino J
- Abstract
Background: Limited information is available on the active process of seeking medical help in patients with Alzheimer's disease (AD) at early stages. The aim of this study was to assess the phenomenon of medical help-seeking in early AD and to identify associated factors., Methods: A multicenter, non-interventional study was conducted including patients of 50-90 years of age with prodromal or mild AD (National Institute on Aging/Alzheimer's Association criteria), a Mini-Mental State Examination (MMSE) score ≥ 22, and a Clinical Dementia Rating-Global score (CDR-GS) of 0.5-1.0. A multivariate logistic regression analysis was conducted., Results: A total of 149 patients were included. Mean age (SD) was 72.3 (7.0) years, 50.3% were female, and 87.2% had a CDR-GS score of 0.5. Mean disease duration was 1.4 (1.8) years. Ninety-four (63.1%) patients sought medical help, mostly from neurologists. Patients with help-seeking intentions were mostly female (60.6%) with a CDR-GS score of 0.5 (91.5%) and had a greater awareness of diagnosis, poorer quality of life, more depressive symptoms, and a more severe perception of their condition than their counterparts. Lack of help-seeking intentions was associated with male sex ( p = 0.003), fewer years of education ( p = 0.005), a low awareness of diagnosis ( p = 0.005), and a low emotional consequence of the condition ( p = 0.016)., Conclusion: Understanding the phenomenon of active medical help-seeking may facilitate the design of specific strategies to improve the detection of cognitive impairment, especially in patients with a lower level of educational attainment and poor awareness of their condition., Competing Interests: EG-A and JM are employees of Roche Farma Spain. AV-G discloses honoraria from a consulting/advisory role with KRKA, Kern Pharma, Exeltis, Esteve, Roche, AbbVie, Schwabe, Neuraxpharm, Nutricia, and Alter. AO-R discloses honoraria from a consulting/advisory role with Alter, Biocross, Biogen, KRKA, Esteve, Schwabe, Nutricia, and Lilly. EF-M discloses honoraria from a consulting/advisory role with Kern Pharma, Esteve, Roche, and Neuraxpharm. MeB discloses honoraria from a consulting/advisory role with Grifols, Araclon Biotech, Roche, Lilly, Merck, Biogen, Zambon, Novo-Nordisk, Bioiberica, Biogen, Eisai, Servier, and Schwabe Pharma. RA discloses their participation on an advisory board and having received speaking fees from Almirall, Bayer, Biogen, Merck, Novartis, Roche, Sanofi, and Teva. AL discloses honoraria from a consulting/advisory role with Grifols, Fujirebio-Europe, Novartis, Roche, Otsuka, Nutricia, Zambón, Biogen, Lilly, and KRKA. A preliminary report of this data was presented as an eposter at the 9th Congress of the European Academy of Neurology (EPO-187, Budapest, Hungary; July 1–4, 2023). The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Villarejo-Galende, García-Arcelay, Piñol-Ripoll, del Olmo-Rodríguez, Viñuela, Boada, Franco-Macías, Ibañez de la Peña, Riverol, Puig-Pijoan, Abizanda-Soler, Arroyo, Baquero-Toledo, Feria-Vilar, Balasa, Berbel, Rodríguez-Rodríguez, Vieira-Campos, Garcia-Ribas, Rodrigo-Herrero, Lleó and Maurino.)
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- 2023
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46. A Machine Learning Approach Investigating Consumers' Familiarity with and Involvement in the Just Noticeable Color Difference and Cured Color Characterization Scale.
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Ripoll G, Panea B, and Latorre MÁ
- Abstract
The aim of this study was to elucidate the relations between the visual color perception and the instrumental color of dry-cured ham, with a specific focus on determining the Just Noticeable Color Difference (JNCD). Additionally, we studied the influence of consumer involvement and familiarity on color-related associations and JNCD. Slices of ham were examined to determine their instrumental color and photos were taken. Consumers were surveyed about color scoring and matching of the pictures; they were also asked about their involvement in food, familiarity with cured ham, and sociodemographic characteristics. Consumers were clustered according to their level of involvement and the JNCD was calculated for the clusters. An interpretable machine learning algorithm was used to relate the visual appraisal to the instrumental color. A JNCD of ΔEab* = 6.2 was established, although it was lower for younger people. ΔEab* was also influenced by the involvement of consumers. The machine-learning algorithm results were better than those obtained via multiple linear regressions when consumers' psychographic characteristics were included. The most important color variables of the algorithm were L* and hab. The findings of this research underscore the impact of consumers' involvement and familiarity with dry-cured ham on their perception of color.
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- 2023
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47. Understanding the Episodic Memory and Executive Functioning Axis Impairment in MCI Patients: A Multicenter Study in Comparison with CSF Biomarkers.
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Chino B, Torres-Simón L, Żelwetro A, Rodríguez-Rojo IC, Carnes-Vendrell A, Piñol-Ripoll G, Yubero R, Paúl N, and Maestú F
- Abstract
Background: This study aimed to explore the association between a verbal learning task that evaluates the potential mutual dependency between memory and executive functions (i.e., the Test of Memory Strategies, TMS) and cerebrospinal fluid (CSF) Alzheimer's Disease (AD) biomarkers., Methods: A sample of 47 mild cognitive impairment (MCI) participants from Poland and Spain were classified according to the Erlangen Score Diagnostic Algorithm (ESA) into CSF- ( n = 16) and CSF+ ( n = 31) groups. Correlation analyses between TMS word-list conditions and CSF biomarkers were conducted. Additionally, an analysis of covariance was performed to define the effect on ESA classification in the sample, using as a covariable the country of origin of the participants., Results: Significant associations between the TMS-3 condition and Aβ42, t-tau, and p-tau were observed for the whole sample. In addition, the CSF- participants obtained higher cognitive performance in TMS-3 compared to the CSF+ group. This outcome persisted if the groups were based on Aβ42 scores, but not t-tau or p-tau values., Conclusions: These findings could indicate that poor performance on verbal learning tests may be affected by executive dysfunctions. Therefore, future intervention plans focused on training executive functions would be of interest to improve the ability of MCI patients to encode and organize information.
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- 2023
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48. Agreement of cerebrospinal fluid biomarkers and amyloid-PET in a multicenter study.
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Guillén N, Contador J, Buongiorno M, Álvarez I, Culell N, Alcolea D, Lleó A, Fortea J, Piñol-Ripoll G, Carnes-Vendrell A, Lourdes Ispierto M, Vilas D, Puig-Pijoan A, Fernández-Lebrero A, Balasa M, Sánchez-Valle R, and Lladó A
- Abstract
Core Alzheimer's disease (AD) cerebrospinal fluid (CSF) biomarkers have shown incomplete agreement with amyloid-positron emission tomography (PET). Our goal was to analyze the agreement between AD CSF biomarkers and amyloid-PET in a multicenter study. Retrospective multicenter study (5 centers). Participants who underwent both CSF biomarkers and amyloid-PET scan within 18 months were included. Clinical diagnoses were made according to latest diagnostic criteria by the attending clinicians. CSF Amyloid Beta
1-42 (Aβ1-42 , A), phosphorliated tau 181 (pTau181, T) and total tau (tTau, N) biomarkers were considered normal (-) or abnormal ( +) according to cutoffs of each center. Amyloid-PET was visually classified as positive/negative. Agreement between CSF biomarkers and amyloid-PET was analyzed by overall percent agreement (OPA). 236 participants were included (mean age 67.9 years (SD 9.1), MMSE score 24.5 (SD 4.1)). Diagnoses were mild cognitive impairment or dementia due to AD (49%), Lewy body dementia (22%), frontotemporal dementia (10%) and others (19%). Mean time between tests was 5.1 months (SD 4.1). OPA between single CSF biomarkers and amyloid-PET was 74% forAβ1-42 , 75% for pTau181, 73% for tTau. The use of biomarker ratios improved OPA: 87% for Aβ1-42 /Aβ1-40 (n = 155), 88% for pTau181/Aβ1-42 (n = 94) and 82% for tTau/Aβ1-42 (n = 160). A + T + N + cases showed the highest agreement between CSF biomarkers and amyloid-PET (96%), followed by A-T-N- cases (89%). Aβ1-42 /Aβ1-40 was a better marker of cerebral amyloid deposition, as identified by amyloid tracers, than Aβ1-42 alone. Combined biomarkers in CSF predicted amyloid-PET result better than single biomarkers., (© 2023. The Author(s).)- Published
- 2023
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49. Changes in Plasma Neutral and Ether-Linked Lipids Are Associated with The Pathology and Progression of Alzheimer's Disease.
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Dakterzada F, Jové M, Huerto R, Carnes A, Sol J, Pamplona R, and Piñol-Ripoll G
- Abstract
Aberrant lipid metabolism has been strongly linked to Alzheimer's disease (AD) pathogenesis. However, the role of lipids in the pathophysiological processes of AD and their clinical progression is unclear. We hypothesized that plasma lipids are associated with the pathological hallmarks of AD, progression from mild cognitive impairment (MCI) to AD, and the rate of cognitive decline in MCI patients. To evaluate our hypotheses, we analysed the plasma lipidome profile by liquid chromatography coupled to mass spectrometry in an LC-ESI-QTOF-MS/MS platform for 213 subjects recruited consecutively: 104 AD, 89 MCI, and 20 control subjects. Forty-seven (52.8%) MCI patients progressed to AD during follow-up (58 ± 12.5 months). We found that higher plasma levels of sphingomyelin SM(36:0) and diglyceride DG(44:3) were associated with an increased risk of amyloid beta 42 (Aβ42) positivity in CSF, while levels of SM(40:1) were associated with a reduced risk. Higher plasma levels of ether-linked triglyceride TG(O-60:10) were negatively associated with pathological levels of phosphorylated tau in CSF. Plasma levels of fatty acid ester of hydroxy fatty acid FAHFA(34:0) and ether-linked phosphatidylcholine PC(O-36:1) were positively associated with pathological levels of total tau in CSF. Regarding the plasma lipids most associated with progression from MCI to AD, our analysis detected phosphatidyl-ethanolamine plasmalogen PE(P-36:4), TG(59:12), TG(46:0), and TG(O-62:7). Furthermore, TG(O-62:7) was the lipid that was most strongly associated with the rate of progression. In conclusion, our results indicate that neutral and ether-linked lipids are involved in the pathophysiological processes of AD and the progression from MCI to AD dementia, suggesting the involvement of lipid-mediated antioxidant mechanisms in AD.
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- 2023
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50. Lipidomic Alterations in the Cerebral Cortex and White Matter in Sporadic Alzheimer's Disease.
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Obis E, Sol J, Andres-Benito P, Martín-Gari M, Mota-Martorell N, Galo-Licona JD, Piñol-Ripoll G, Portero-Otin M, Ferrer I, Jové M, and Pamplona R
- Abstract
Non-targeted LC-MS/MS-based lipidomic analysis was conducted in post-mortem human grey matter frontal cortex area 8 (GM) and white matter of the frontal lobe centrum semi-ovale (WM) to identify lipidome fingerprints in middle-aged individuals with no neurofibrillary tangles and senile plaques, and cases at progressive stages of sporadic Alzheimer's disease (sAD). Complementary data were obtained using RT-qPCR and immunohistochemistry. The results showed that WM presents an adaptive lipid phenotype resistant to lipid peroxidation, characterized by a lower fatty acid unsaturation, peroxidizability index, and higher ether lipid content than the GM. Changes in the lipidomic profile are more marked in the WM than in GM in AD with disease progression. Four functional categories are associated with the different lipid classes affected in sAD: membrane structural composition, bioenergetics, antioxidant protection, and bioactive lipids, with deleterious consequences affecting both neurons and glial cells favoring disease progression.
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- 2023
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