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31 results on '"Benaque, Alba"'

1. Author Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

Author

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, Montrreal, Laura, Antúnez, Carmen, Antonell, Anna, Tankard, Rick M., Bis, Joshua C., Sims, Rebecca, Bellenguez, Céline, Quintela, Inés, González-Perez, Antonio, Calero, Miguel, Franco-Macías, Emilio, Macías, Juan, Blesa, Rafael, Cervera-Carles, Laura, Menéndez-González, Manuel, Frank-García, Ana, Royo, Jose Luís, Moreno, Fermin, Huerto Vilas, Raquel, Baquero, Miquel, Diez-Fairen, Mónica, Lage, Carmen, García-Madrona, Sebastián, García-González, Pablo, Alarcón-Martín, Emilio, Valero, Sergi, Sotolongo-Grau, Oscar, Ullgren, Abbe, Naj, Adam C., Lemstra, Afina W., Benaque, Alba, Pérez-Cordón, Alba, Benussi, Alberto, Rábano, Alberto, Padovani, Alessandro, Squassina, Alessio, de Mendonça, Alexandre, Arias Pastor, Alfonso, Kok, Almar A. L., Meggy, Alun, Pastor, Ana Belén, Espinosa, Ana, Corma-Gómez, Anaïs, Martín Montes, Angel, Sanabria, Ángela, DeStefano, Anita L., Schneider, Anja, Haapasalo, Annakaisa, Kinhult Ståhlbom, Anne, Tybjærg-Hansen, Anne, Hartmann, Annette M., Spottke, Annika, Corbatón-Anchuelo, Arturo, Rongve, Arvid, Borroni, Barbara, Arosio, Beatrice, Nacmias, Benedetta, Nordestgaard, Børge G., Kunkle, Brian W., Charbonnier, Camille, Abdelnour, Carla, Masullo, Carlo, Martínez Rodríguez, Carmen, Muñoz-Fernandez, Carmen, Dufouil, Carole, Graff, Caroline, Ferreira, Catarina B., Chillotti, Caterina, Reynolds, Chandra A., Fenoglio, Chiara, Van Broeckhoven, Christine, Clark, Christopher, Pisanu, Claudia, Satizabal, Claudia L., Holmes, Clive, Buiza-Rueda, Dolores, Aarsland, Dag, Rujescu, Dan, Alcolea, Daniel, Galimberti, Daniela, Wallon, David, Seripa, Davide, Grünblatt, Edna, Dardiotis, Efthimios, Düzel, Emrah, Scarpini, Elio, Conti, Elisa, Rubino, Elisa, Gelpi, Ellen, Rodriguez-Rodriguez, Eloy, Duron, Emmanuelle, Boerwinkle, Eric, Ferri, Evelyn, Tagliavini, Fabrizio, Küçükali, Fahri, Pasquier, Florence, Sanchez-Garcia, Florentino, Mangialasche, Francesca, Jessen, Frank, Nicolas, Gaël, Selbæk, Geir, Ortega, Gemma, Chêne, Geneviève, Hadjigeorgiou, Georgios, Rossi, Giacomina, Spalletta, Gianfranco, Giaccone, Giorgio, Grande, Giulia, Binetti, Giuliano, Papenberg, Goran, Hampel, Harald, Bailly, Henri, Zetterberg, Henrik, Soininen, Hilkka, Karlsson, Ida K., Alvarez, Ignacio, Appollonio, Ildebrando, Giegling, Ina, Skoog, Ingmar, Saltvedt, Ingvild, Rainero, Innocenzo, Rosas Allende, Irene, Hort, Jakub, Diehl-Schmid, Janine, Van Dongen, Jasper, Vidal, Jean-Sebastien, Lehtisalo, Jenni, Wiltfang, Jens, Thomassen, Jesper Qvist, Kornhuber, Johannes, Haines, Jonathan L., Vogelgsang, Jonathan, Pineda, Juan A., Fortea, Juan, Popp, Julius, Deckert, Jürgen, Buerger, Katharina, Morgan, Kevin, Fließbach, Klaus, Sleegers, Kristel, Molina-Porcel, Laura, Kilander, Lena, Weinhold, Leonie, Farrer, Lindsay A., Wang, Li-San, Kleineidam, Luca, Farotti, Lucia, Parnetti, Lucilla, Tremolizzo, Lucio, Hausner, Lucrezia, Benussi, Luisa, Froelich, Lutz, Ikram, M. Arfan, Deniz-Naranjo, M. Candida, Tsolaki, Magda, Rosende-Roca, Maitée, Löwenmark, Malin, Hulsman, Marc, Spallazzi, Marco, Pericak-Vance, Margaret A., Esiri, Margaret, Bernal Sánchez-Arjona, María, Dalmasso, Maria Carolina, Martínez-Larrad, María Teresa, Arcaro, Marina, Nöthen, Markus M., Fernández-Fuertes, Marta, Dichgans, Martin, Ingelsson, Martin, Herrmann, Martin J., Scherer, Martin, Vyhnalek, Martin, Kosmidis, Mary H., Yannakoulia, Mary, Schmid, Matthias, Ewers, Michael, Heneka, Michael T., Wagner, Michael, Scamosci, Michela, Kivipelto, Miia, Hiltunen, Mikko, Zulaica, Miren, Alegret, Montserrat, Fornage, Myriam, Roberto, Natalia, van Schoor, Natasja M., Seidu, Nazib M., Banaj, Nerisa, Armstrong, Nicola J., Scarmeas, Nikolaos, Scherbaum, Norbert, Goldhardt, Oliver, Hanon, Oliver, Peters, Oliver, Skrobot, Olivia Anna, Quenez, Olivier, Lerch, Ondrej, Bossù, Paola, Caffarra, Paolo, Dionigi Rossi, Paolo, Sakka, Paraskevi, Mecocci, Patrizia, Hoffmann, Per, Holmans, Peter A., Fischer, Peter, Riederer, Peter, Yang, Qiong, Marshall, Rachel, Kalaria, Rajesh N., Mayeux, Richard, Vandenberghe, Rik, Cecchetti, Roberta, Ghidoni, Roberta, Frikke-Schmidt, Ruth, Sorbi, Sandro, Hägg, Sara, Engelborghs, Sebastiaan, Helisalmi, Seppo, Botne Sando, Sigrid, Kern, Silke, Archetti, Silvana, Boschi, Silvia, Fostinelli, Silvia, Gil, Silvia, Mendoza, Silvia, Mead, Simon, Ciccone, Simona, Djurovic, Srdjan, Heilmann-Heimbach, Stefanie, Riedel-Heller, Steffi, Kuulasmaa, Teemu, del Ser, Teodoro, Lebouvier, Thibaud, Polak, Thomas, Ngandu, Tiia, Grimmer, Timo, Bessi, Valentina, Escott-Price, Valentina, Giedraitis, Vilmantas, Deramecourt, Vincent, Maier, Wolfgang, Jian, Xueqiu, Pijnenburg, Yolande A. L., 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., and Ruiz, Agustín

Published
2023
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3. Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

Author

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, Montrreal, Laura, Antúnez, Carmen, Antonell, Anna, Tankard, Rick M., Bis, Joshua C., Sims, Rebecca, Bellenguez, Céline, Quintela, Inés, González-Perez, Antonio, Calero, Miguel, Franco-Macías, Emilio, Macías, Juan, Blesa, Rafael, Cervera-Carles, Laura, Menéndez-González, Manuel, Frank-García, Ana, Royo, Jose Luís, Moreno, Fermin, Huerto Vilas, Raquel, Baquero, Miquel, Diez-Fairen, Mónica, Lage, Carmen, García-Madrona, Sebastián, García-González, Pablo, Alarcón-Martín, Emilio, Valero, Sergi, Sotolongo-Grau, Oscar, Ullgren, Abbe, Naj, Adam C., Lemstra, Afina W., Benaque, Alba, Pérez-Cordón, Alba, Benussi, Alberto, Rábano, Alberto, Padovani, Alessandro, Squassina, Alessio, de Mendonça, Alexandre, Arias Pastor, Alfonso, Kok, Almar A. L., Meggy, Alun, Pastor, Ana Belén, Espinosa, Ana, Corma-Gómez, Anaïs, Martín Montes, Angel, Sanabria, Ángela, DeStefano, Anita L., Schneider, Anja, Haapasalo, Annakaisa, Kinhult Ståhlbom, Anne, Tybjærg-Hansen, Anne, Hartmann, Annette M., Spottke, Annika, Corbatón-Anchuelo, Arturo, Rongve, Arvid, Borroni, Barbara, Arosio, Beatrice, Nacmias, Benedetta, Nordestgaard, Børge G., Kunkle, Brian W., Charbonnier, Camille, Abdelnour, Carla, Masullo, Carlo, Martínez Rodríguez, Carmen, Muñoz-Fernandez, Carmen, Dufouil, Carole, Graff, Caroline, Ferreira, Catarina B., Chillotti, Caterina, Reynolds, Chandra A., Fenoglio, Chiara, Van Broeckhoven, Christine, Clark, Christopher, Pisanu, Claudia, Satizabal, Claudia L., Holmes, Clive, Buiza-Rueda, Dolores, Aarsland, Dag, Rujescu, Dan, Alcolea, Daniel, Galimberti, Daniela, Wallon, David, Seripa, Davide, Grünblatt, Edna, Dardiotis, Efthimios, Düzel, Emrah, Scarpini, Elio, Conti, Elisa, Rubino, Elisa, Gelpi, Ellen, Rodriguez-Rodriguez, Eloy, Duron, Emmanuelle, Boerwinkle, Eric, Ferri, Evelyn, Tagliavini, Fabrizio, Küçükali, Fahri, Pasquier, Florence, Sanchez-Garcia, Florentino, Mangialasche, Francesca, Jessen, Frank, Nicolas, Gaël, Selbæk, Geir, Ortega, Gemma, Chêne, Geneviève, Hadjigeorgiou, Georgios, Rossi, Giacomina, Spalletta, Gianfranco, Giaccone, Giorgio, Grande, Giulia, Binetti, Giuliano, Papenberg, Goran, Hampel, Harald, Bailly, Henri, Zetterberg, Henrik, Soininen, Hilkka, Karlsson, Ida K., Alvarez, Ignacio, Appollonio, Ildebrando, Giegling, Ina, Skoog, Ingmar, Saltvedt, Ingvild, Rainero, Innocenzo, Rosas Allende, Irene, Hort, Jakub, Diehl-Schmid, Janine, Van Dongen, Jasper, Vidal, Jean-Sebastien, Lehtisalo, Jenni, Wiltfang, Jens, Thomassen, Jesper Qvist, Kornhuber, Johannes, Haines, Jonathan L., Vogelgsang, Jonathan, Pineda, Juan A., Fortea, Juan, Popp, Julius, Deckert, Jürgen, Buerger, Katharina, Morgan, Kevin, Fließbach, Klaus, Sleegers, Kristel, Molina-Porcel, Laura, Kilander, Lena, Weinhold, Leonie, Farrer, Lindsay A., Wang, Li-San, Kleineidam, Luca, Farotti, Lucia, Parnetti, Lucilla, Tremolizzo, Lucio, Hausner, Lucrezia, Benussi, Luisa, Froelich, Lutz, Ikram, M. Arfan, Deniz-Naranjo, M. Candida, Tsolaki, Magda, Rosende-Roca, Maitée, Löwenmark, Malin, Hulsman, Marc, Spallazzi, Marco, Pericak-Vance, Margaret A., Esiri, Margaret, Bernal Sánchez-Arjona, María, Dalmasso, Maria Carolina, Martínez-Larrad, María Teresa, Arcaro, Marina, Nöthen, Markus M., Fernández-Fuertes, Marta, Dichgans, Martin, Ingelsson, Martin, Herrmann, Martin J., Scherer, Martin, Vyhnalek, Martin, Kosmidis, Mary H., Yannakoulia, Mary, Schmid, Matthias, Ewers, Michael, Heneka, Michael T., Wagner, Michael, Scamosci, Michela, Kivipelto, Miia, Hiltunen, Mikko, Zulaica, Miren, Alegret, Montserrat, Fornage, Myriam, Roberto, Natalia, van Schoor, Natasja M., Seidu, Nazib M., Banaj, Nerisa, Armstrong, Nicola J., Scarmeas, Nikolaos, Scherbaum, Norbert, Goldhardt, Oliver, Hanon, Oliver, Peters, Oliver, Skrobot, Olivia Anna, Quenez, Olivier, Lerch, Ondrej, Bossù, Paola, Caffarra, Paolo, Dionigi Rossi, Paolo, Sakka, Paraskevi, Mecocci, Patrizia, Hoffmann, Per, Holmans, Peter A., Fischer, Peter, Riederer, Peter, Yang, Qiong, Marshall, Rachel, Kalaria, Rajesh N., Mayeux, Richard, Vandenberghe, Rik, Cecchetti, Roberta, Ghidoni, Roberta, Frikke-Schmidt, Ruth, Sorbi, Sandro, Hägg, Sara, Engelborghs, Sebastiaan, Helisalmi, Seppo, Botne Sando, Sigrid, Kern, Silke, Archetti, Silvana, Boschi, Silvia, Fostinelli, Silvia, Gil, Silvia, Mendoza, Silvia, Mead, Simon, Ciccone, Simona, Djurovic, Srdjan, Heilmann-Heimbach, Stefanie, Riedel-Heller, Steffi, Kuulasmaa, Teemu, del Ser, Teodoro, Lebouvier, Thibaud, Polak, Thomas, Ngandu, Tiia, Grimmer, Timo, Bessi, Valentina, Escott-Price, Valentina, Giedraitis, Vilmantas, Deramecourt, Vincent, Maier, Wolfgang, Jian, Xueqiu, Pijnenburg, Yolande A. L., 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., and Ruiz, Agustín

Published
2021
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4. Author Correction: Interaction of neuropsychiatric symptoms with APOE ε4 and conversion to dementia in MCI patients in a Memory Clinic

Author

Valero, Sergi, Marquié, Marta, De Rojas, Itziar, Espinosa, Ana, Moreno‑Grau, Sonia, Orellana, Adelina, Montrreal, Laura, Hernández, Isabel, Mauleón, Ana, Rosende‑Roca, Maiteé, Alegret, Montse, Pérez‑Cordón, Alba, Ortega, Gemma, Roberto, Natalia, Sanabria, Angela, Abdelnour, Carla, Gil, Silvia, Tartari, Juan Pablo, Vargas, Liliana, Antonio, Ester Esteban‑De, Benaque, Alba, Tárraga, Lluís, Boada, Mercè, and Ruíz, Agustín

Published
2021
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5. Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project

Author

Abdelnour, C., Aguilera, N., Alarcon, E., Alegret, M., Benaque, A., Boada, M., Buendia, M., Cañabate, P., Carracedo, A., Corbatón, 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., Monté-Rubio, G., Montrreal, L., Moreno-Grau, S., Moreno, M., Orellana, A., Ortega, G., Pancho, A., Pelejà, E., Pérez-Cordon, A., Pineda, J.A., Preckler, S., Quintela, I., Real, L.M., Rodríguez-Gómez, O., Rosende-Roca, M., Ruiz, A., Ruiz, S., Sáez, M.E., Sanabria, A., Santos-Santos, M.A., Serrano-Rios, M., Sotolongo-Grau, O., Tárraga, L., Valero, S., Vargas, L., Adarmes-Gómez, A.D., Alarcón-Martín, E., Álvarez, I., Álvarez, V., Amer-Ferrer, Goo, 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., Fortea, J., Franco, E., Frank-García, A., García-Alberca, J.M., Garcia Madrona, S., Garcia-Ribas, G., Gómez-Garre, P., Hevilla, S., Jesús, S., Espinosa, Labrador, Lage, C., Legaz, A., Lleó, A., López de Munáin, A., López-García, S., Macias, 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, A.B., Pastor, P., Pérez Tur, J., Periñán-Tocino, T., Piñol Ripoll, G., Rábano, A., Real de Asúa, D., Rodrigo, S., Rodríguez-Rodríguez, E., Royo, J.L., A, Ruiz, Sanchez del Valle Díaz, R., Sánchez-Juan, P., Sastre, I., Vicente, M.P., Vivancos, L., Moreno-Grau, Sonia, de Rojas, Itziar, Hernández, Isabel, Quintela, Inés, Montrreal, Laura, Alegret, Montserrat, Hernández-Olasagarre, Begoña, Madrid, Laura, González-Perez, Antonio, Maroñas, Olalla, Rosende-Roca, Maitée, Mauleón, Ana, Vargas, Liliana, Lafuente, Asunción, Abdelnour, Carla, Rodríguez-Gómez, Octavio, Gil, Silvia, Santos-Santos, Miguel Ángel, Espinosa, Ana, Ortega, Gemma, Sanabria, Ángela, Pérez-Cordón, Alba, Cañabate, Pilar, Moreno, Mariola, Preckler, Silvia, Ruiz, Susana, Aguilera, Nuria, Pineda, Juan Antonio, Macías, Juan, Alarcón-Martín, Emilio, Sotolongo-Grau, Oscar, Marquié, Marta, Monté-Rubio, Gemma, Valero, Sergi, Benaque, Alba, Clarimón, Jordi, Bullido, Maria Jesus, García-Ribas, Guillermo, Pástor, Pau, Sánchez-Juan, Pascual, Álvarez, Victoria, Piñol-Ripoll, Gerard, García-Alberca, Jose Maria, Royo, José Luis, Franco, Emilio, Mir, Pablo, Calero, Miguel, Medina, Miguel, Rábano, Alberto, Ávila, Jesús, Antúnez, Carmen, Real, Luis Miguel, Orellana, Adelina, Carracedo, Ángel, Sáez, María Eugenia, Tárraga, Lluís, Boada, Mercè, and Ruiz, Agustín

Published
2019
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6. Interaction of neuropsychiatric symptoms with APOE ε4 and conversion to dementia in MCI patients in a Memory Clinic

Author

Valero, Sergi, Marquié, Marta, De Rojas, Itziar, Espinosa, Ana, Moreno-Grau, Sonia, Orellana, Adelina, Montrreal, Laura, Hernández, Isabel, Mauleón, Ana, Rosende-Roca, Maitée, Alegret, Montse, Pérez-Cordón, Alba, Ortega, Gemma, Roberto, Natalia, Sanabria, Angela, Abdelnour, Carla, Gil, Silvia, Tartari, Juan Pablo, Vargas, Liliana, Esteban-De Antonio, Ester, Benaque, Alba, Tárraga, Lluís, Boada, Mercè, and Ruíz, Agustín

Published
2020
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7. A computerized version of the Short Form of the Face-Name Associative Memory Exam (FACEmemory®) for the early detection of Alzheimer’s disease

Author

Alegret, Montserrat, Muñoz, Nathalia, Roberto, Natalia, Rentz, Dorene M., Valero, Sergi, Gil, Silvia, Marquié, Marta, Hernández, Isabel, Riveros, Catalina, Sanabria, Angela, Perez-Cordon, Alba, Espinosa, Ana, Ortega, Gemma, Mauleón, Ana, Abdelnour, Carla, Rosende-Roca, Maitee, Papp, Kathryn V., Orellana, Adela, Benaque, Alba, Tarraga, Lluís, Ruiz, Agustín, and Boada, Mercè

Published
2020
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8. Model de relació entre l’atenció primària i comunitària i l’atenció hospitalària ambulatòria

Author

Abilleira, Sònia, Algar, Daniel, Barahona Marco, Marta, Benaque, Alba, Benavent, Jaume, Boada, Albert, Boadas, Jaume, Borràs, Xavier, Carrasco, Ignasi, Carrasco, Marta, Carod, Cristina, Casajuana, Josep, Cebrián, Rocío, Enfedaque Montes, M. Belén, Escosa, Àlex, Espinalt, Marta, Estrada, Oriol, Ferrer, Daniel, Garcia, Oriol, Gómez, Maite, Ingla, Jordi, Llussa, Judit, Lopez, David, Mármol, José, Moreno, Nemesio, Navasquillo Calderon, Amparo, Peiró, Ricard, Regaña, Daniel, Rodoreda, Sara, Romero, Rosa, Ruiz, Rafael, Solans, Oscar, Vall Llosera, Anna, Mas, Ariadna, Gil, Esther, and Departament de Salut

Subjects
atención a la salud (salud pública)::niveles de atención a la salud::atención a la salud (salud pública)::atención primaria de la salud [SALUD PÚBLICA], Atenció primària, Serveis sanitaris, Health Care (Public Health)::Health Care Levels::Health Care (Public Health)::Primary Health Care [PUBLIC HEALTH], atención a la salud (salud pública)::prestación sanitaria::atención hospitalaria [SALUD PÚBLICA], atención a la salud (salud pública)::servicios de salud [SALUD PÚBLICA], Health Care (Public Health)::Health Services [PUBLIC HEALTH], Health Care (Public Health)::Delivery of Health Care::Hospital Care [PUBLIC HEALTH], Assistència hospitalària
Abstract

Atenció primària; Atenció hospitalària; Pacient Atención primaria; Atención hospitalaria; Paciente Primary care; Hospital care; Patient L’objectiu del present document és definir un model de relació entre l’atenció primària i comunitària i l’atenció hospitalària ambulatòria que doni una resposta resolutiva, equitativa i de qualitat durant tot el procés assistencial. A tal fi es defineix el diagrama del procés assistencial pel qual els metgesa especialistes de medicina de família i comunitària (MFiC) sol·liciten l’atenció, mitjançant l’ordre clínica, dels seus homòlegs d’atenció hospitalària ambulatòria (MAH). A més, s’estableixen un seguit de recomanacions relatives a la relació que s’estableix entre l’MFiC i el MAH a l’hora de contribuir a la millora de la salut de la persona atesa.

Published
2023

9. Visual impairment in aging and cognitive decline: experience in a Memory Clinic

Author

Marquié, Marta, Castilla-Martí, Miguel, Valero, Sergi, Martínez, Joan, Sánchez, Domingo, Hernández, Isabel, Rosende-Roca, Maitée, Vargas, Liliana, Mauleón, Ana, Rodríguez-Gómez, Octavio, Abdelnour, Carla, Gil, Silvia, Santos-Santos, Miguel A., Alegret, Montserrat, Espinosa, Ana, Ortega, Gemma, Pérez-Cordón, Alba, Sanabria, Ángela, Roberto, Natalia, Moreno-Grau, Sonia, de Rojas, Itziar, Simó, Rafael, Ciudin, Andreea, Hernández, Cristina, Orellana, Adelina, Monté-Rubio, Gemma, Benaque, Alba, Ruiz, Agustín, Tárraga, Lluís, and Boada, Mercè

Published
2019
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10. Ruta assistencial de complexitat 2.0 (PCC/MACA) a Catalunya: definició de la ruta i proposta de desplegament

Author

Amblàs-Novellas, Jordi, Banqué, Miquel, Boada, Albert, Comin-Colet, Josep, Contel-Segura, Joan C., Delgado, Albert, Grego, Josep M., Ruiz, Rafa, Santaeugènia-Gonzàlez, Sebastià J., Benaque, Alba, and Departament de Salut

Subjects
Políticas, Planificación y Administración en salud::planificación en salud [SALUD PÚBLICA], afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedad crónica [ENFERMEDADES], Salut pública - Planificació, Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Chronic Disease [DISEASES], Health Policy, Planning and Management::Health Planning [PUBLIC HEALTH], Malalts crònics - Assistència mèdica
Abstract

Ruta assistencial; Pacients crònics complexos; Desplegament Via clínica; Pacientes crónicos complejos; Despliegue Clinical pathway; Complex chronic patients; Deployment Les rutes assistencials s’orienten a donar una millor resposta a les persones amb patologies i problemes de salut crònics i de més prevalença; permeten millorar-ne el maneig, organitzar l’atenció dels professionals partint d’un model d’atenció integrada i proactiva, adequar la prestació de serveis a un model d’atenció compartida entre els diferents àmbits d’atenció, així com definir mecanismes per a la individualització del pla d’atenció i l’adequació en la utilització de recursos. En aquest document es presenta la ruta assistencial de complexitat (PCC/MACA) i es proporcionen instruments i eines per fer-ne el desplegament al territori.

Published
2022

11. Interaction of neuropsychiatric symptoms with APOE e4 and conversion to dementia in MCI patients in a memory clinic

Author

Valero, Sergi, primary, Marquie, Marta, additional, Rojas, Itziar, additional, Moreno, Sonia, additional, Espinosa, Ana, additional, Orellana, Adelina, additional, Montrreal, Laura, additional, Hernandez, Isabel, additional, Mauleon, Ana, additional, Rosende‐Roca, Maitee, additional, Alegret, Montserrat, additional, Pérez‐Cordón, Alba, additional, Ortega, Gemma, additional, Roberto, Natalia, additional, Sanabria, Angela, additional, Abdelnour, Carla, additional, Gil, Silvia, additional, Tartari, Juan Pablo, additional, Vargas, Liliana, additional, Antonio, Ester Esteban‐De, additional, Benaque, Alba, additional, Tarraga, Lluis, additional, Boada, Mercè, additional, and Ruiz, Agustín, additional

Published
2020
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12. How gender and sex influence clinical trial recruitment in Alzheimer's disease: Findings from Fundació ACE Barcelona Alzheimer Treatment and Research Center

Author

Abdelnour, Carla, primary, Valero, Sergi, additional, Rosende‐Roca, Maitee, additional, Lafuente, Asuncion, additional, Hernandez, Isabel, additional, Tartari, Juan Pablo, additional, Santuccione, Antonella, additional, Ferretti, Maria Teresa, additional, Maguire, Peggy, additional, Buendía, Mar, additional, Pancho, Ana, additional, Tarraga, Lluis, additional, Benaque, Alba, additional, Gurrutxaga, Miren, additional, Ruiz, Agustín, additional, and Boada, Mercè, additional

Published
2020
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13. Gender and sex bias in clinical trial recruitment in Alzheimer's disease: Findings from Fundació ACE

Author

Abdelnour, Carla, primary, Valero, Sergi, additional, Rosende‐Roca, Maitee, additional, Lafuente, Asuncion, additional, Hernandez, Isabel, additional, Tartari, Juan Pablo, additional, Santuccione, Antonella, additional, Ferreti, Maria Teresa, additional, Maguire, Peggy, additional, Buendía, Mar, additional, Pancho, Ana, additional, Tarraga, Lluis, additional, Benaque, Alba, additional, Gurrutxaga, Miren, additional, Ruiz, Agustín, additional, and Boada, Mercè, additional

Published
2020
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14. General practitioners’ attitude toward early and pre-dementia diagnosis of AD in five European countries—A MOPEAD project survey.

Author

Sannemann, Lena, Müller, Theresa, Waterink, Lisa, Zwan, Marissa, Wimo, Anders, Stomrud, Erik, Pinó, Susana, Arrufat, Jordi, Rodríguez-Gomez, Octavio, Benaque, Alba, Bon, Jaka, Ferreira, Daniel, Johansson, Gunilla, Dron, Amanda, Dumas, Annette, Georges, Jean, Kramberger, Milica G., Visser, Pieter Jelle, Winblad, Bengt, and Campo, Laura

Subjects
EARLY diagnosis, DEMENTIA, PRIMARY care, GENERAL practitioners, ALZHEIMER'S disease, MILD cognitive impairment
Abstract

Introduction: General practitioners (GPs) play a key role in early identification of dementia, yet diagnosis is often missed or delayed in primary care. As part of the multinational Models of Patient Engagement for Alzheimer’s Disease project, weassess GPs’attitude toward early and pre-dementia diagnosis of AD and explore barriers to early diagnosis. Methods: Our survey covered general attitude toward early diagnosis, diagnostic procedures, resources, and opinion on present and future treatment options across five European countries. Results: In total 343 GPs completed the survey; 74% of GPs indicated that an early diagnosis is valuable. There were country-specific differences in GPs’ perceptions of reimbursement and time available for the patient. If a drug were available to slow down the progression of AD, 59% of the GPs would change their implementation of early diagnosis. Discussion: Our findings provide insight into GPs’ attitudes by exploring differences in perception and management of early diagnosis. [ABSTRACT FROM AUTHOR]

Published
2021
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15. Subtle executive deficits are associated with higher brain amyloid burden and lower cortical volume in subjective cognitive decline: the FACEHBI cohort.

Author

Pérez-Cordón, Alba, Monté-Rubio, Gemma, Sanabria, Angela, Rodriguez-Gomez, Octavio, Valero, Sergi, Abdelnour, Carla, Marquié, Marta, Espinosa, Ana, Ortega, Gemma, Hernandez, Isabel, Rosende-Roca, Maitee, Vargas, Liliana, Mauleón, Ana, Gil, Silvia, Tartari, Juan Pablo, Lomeña, Francisco, Campos, Francisco, Vivas, Assumpta, Gomez-Chiari, Marta, and Benaque, Alba

Subjects
ALZHEIMER'S disease, GENE expression, PHENOTYPES, BIOLOGICAL databases, EMISSION-computed tomography
Abstract

To determine whether lower performance on executive function tests in subjective cognitive decline (SCD) individuals are associated with higher levels of brain amyloid beta (Aβ) deposition and regional volumetric reduction in areas of interest for Alzheimer's disease (AD). 195 individuals with SCD from the FACEHBI study were assessed with a neuropsychological battery that included the following nine executive function tests: Trail Making Test A and B (TMTA, TMTB), the Rule Shift Cards subtest of BADS, the Automatic Inhibition subtest of the Syndrom Kurz Test (AI-SKT), Digit Span Backwards and Similarities from WAIS-III, and the letter, semantic, and verb fluency tests. All subjects underwent an 18F-Florbetaben positron emission tomography (FBB-PET) scan to measure global standard uptake value ratio (SUVR), and a magnetic resonance imaging (MRI). A multiple regression analysis, adjusted for age, was carried out to explore the association between global SUVR and performance on executive tests. Then, on those tests significantly associated with amyloid burden, a voxel-based morphometry (VBM) analysis was carried out to explore their correlates with grey matter volume. Multiple regression analysis revealed a statistically significant association between Aβ deposition and performance on one of the executive tests (the AI-SKT). Moreover, VBM analysis showed worse AI-SKT scores were related to lower volume in bilateral hippocampus and left inferior frontal regions. In conclusion, in SCD individuals, worse automatic inhibition ability has been found related to higher cerebral Aβ deposition and lower volume in the hippocampus and frontal regions. Thus, our results may contribute to the early detection of AD in individuals with SCD. [ABSTRACT FROM AUTHOR]

Published
2020
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16. Managing Clinical Trials for Alzheimer's Disease During the COVID-19 Crisis: Experience at Fundació ACE in Barcelona, Spain.

Author

Abdelnour, Carla, Esteban de Antonio, Ester, Pérez-Cordón, Alba, Lafuente, Asunción, Buendía, Mar, Pancho, Ana, Jofresa, Sara, Aguilera, Nuria, Ibarria, Marta, Cuevas, Rosario, Cañada, Laia, Calvet, Anna, Diego, Susana, González-Pérez, Antonio, Orellana, Adela, Montrreal, Laura, de Jorge, Laura, Marquié, Marta, Benaque, Alba, and Gurruchaga, Miren

Subjects
COVID-19 pandemic, ALZHEIMER'S disease, CLINICAL trials, SERODIAGNOSIS, SARS-CoV-2, ALZHEIMER'S disease treatment, PREVENTION of epidemics, VIRAL pneumonia, EXPERIMENTAL design, CLINICAL pathology, COVID-19, MEDICAL care, PATIENTS, CLINICS, TELEMEDICINE
Abstract

Background: The COVID-19 pandemic has brought great disruption to health systems worldwide. This affected ongoing clinical research, particularly among those most vulnerable to the pandemic, like dementia patients. Fundació ACE is a research center and memory clinic based in Barcelona, Spain, one of the hardest-hit countries.Objective: To describe the ad-hoc strategic plan developed to cope with this crisis and to share its outcomes.Methods: We describe participants' clinical and demographic features. Additionally, we explain our strategic plan aimed at minimizing the impact on clinical trial research activities, which included SARS-CoV-2 RT-PCR and IgG serological tests to all participants and personnel. The outcomes of the plan are described in terms of observed safety events and drop-outs during the study period.Results: A total of 130 patients were participating in 16 active clinical trials in Fundació ACE when the lockdown was established. During the confinement, we performed 1018 calls to the participants, which led to identify adverse events in 26 and COVID-19 symptoms in 6. A total of 83 patients (64%) could restart on-site visits as early as May 11, 2020. All SARS-CoV-2 RT-PCR diagnostic tests performed before on-site visits were negative and only three IgG serological tests were positive. Throughout the study period, we only observed one drop-out, due to an adverse event unrelated to COVID-19.Discussion: The plan implemented by Fundació ACE was able to preserve safety and integrity of ongoing clinical trials. We must use the lessons learned from the pandemic and design crisis-proof protocols for clinical trials. [ABSTRACT FROM AUTHOR]

Published
2020
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17. Avaluació dels resultats de la concentració de la cirurgia oncològica digestiva d’alta especialització a Catalunya: actualització 2014-2015

Author

Manchón-Walsh, Paula, Alfons-Espinàs, Josep, Prades, Joan, Torrents, Abiguei, Aliste, Luisa, Pozuelo, Alfonso, Benaque, Alba, Guarga, Alex, Nadal, Cristina, Argimon-Pallàs, Josep M., Borràs, Josep M., [Manchón-Walsh P, Espinàs JA, Prades J, Torrents A, Aliste L, Borràs JM] Pla Director d’Oncologia, Departament de Salut, Generalitat de Catalunya, Barcelona, Spain. [Pozuelo A, Benaque A, Guarga A, Nadal C] Àrea d’Atenció Sanitària, Servei Català de la Salut (CatSalut), Generalitat de Catalunya, Barcelona, Spain. [Argimon JM] Subdirecció, Servei Català de la Salut (CatSalut), Generalitat de Catalunya, Barcelona, Spain, Departament de Salut, and [Manchón-Walsh, P, Alfons-Espinàs J, Prades J, Torrents A, Aliste L, Borràs JM] Pla Director d’oncologia, Departament de Salut, Generalitat de Catalunya, Barcelona, Spain. [Pozuelo A, Benaque A, Guarga A, Nadal C] Àrea d’atenció sanitària, Servei Català de la Salut (CatSalut), Departament de Salut, Generalitat de Catalunya, Barcelona, Spain. [Argimon JM] Subdirecció, Servei Català de la Salut (CatSalut), Departament de Salut, Generalitat de Catalunya, Barcelona, Spain

Subjects
neoplasias::neoplasias por localización::neoplasias del sistema digestivo [ENFERMEDADES], Neoplasms::Neoplasms by Site::Digestive System Neoplasms [DISEASES], Catalonia, Otros calificadores::Otros calificadores::Otros calificadores::/mortalidad [Otros calificadores], Other subheadings::Other subheadings::Other subheadings::/mortality [Other subheadings], Cataluña, Aparell digestiu - Càncer - Mortalitat, Otros calificadores::Otros calificadores::/cirugía [Otros calificadores], Cirurgia - Catalunya - Estadístiques, Other subheadings::Other subheadings::/surgery [Other subheadings]
Abstract

Cirurgia oncològica; Avaluació; Indicadors Cirugía oncológica; Evaluación; Indicadores Oncological surgery; Evaluation; Indicators El presente trabajo corresponde a la segunda evaluación de los resultados de la cirugía oncológica digestiva de alta especialización con intención curativa de cirugía de esófago, de páncreas y de hígado (que incluye metástasis hepáticas desde la primera evaluación, actualmente ampliado a vías biliares y tumor hepático primario) para los años 2014 y 2015. A diferencia de la primera evaluación basada en el uso de la auditoría clínica "externa", la metodología aplicada en esta segunda evaluación incorpora información directa de los propios profesionales. En ambos casos ha habido feedback, y validación de los resultados finales por su parte. El present treball correspon a la segona avaluació dels resultats de la cirurgia oncològica digestiva d’alta especialització amb intenció curativa de cirurgia d’esòfag, de pàncrees i de fetge (que inclou metàstasis hepàtiques des de la primera avaluació, actualment ampliat a vies biliars i tumor hepàtic primari) per als anys 2014 i 2015. A diferència de la primera avaluació basada en l’ús de l’auditoria clínica “externa”, la metodologia aplicada en aquesta segona avaluació incorpora informació directa dels propis professionals. En ambdós casos hi ha hagut feedback, i validació dels resultats finals per part seva. The present work corresponds to the second evaluation of the results of the digestive oncology surgery of high specialization with a curative intention of surgery of the esophagus, pancreas and liver (which includes hepatic metastases from the first evaluation, currently extended to bile ducts and primary hepatic tumor) for the years 2014 and 2015. Unlike the first evaluation based on the use of the "external" clinical audit, the methodology applied in this second evaluation incorporates direct information from the professionals themselves. In both cases there has been feedback, and validation of the final results on his part.

Published
2016

18. Dementia Care in Times of COVID-19: Experience at Fundació ACE in Barcelona, Spain.

Author

Benaque, Alba, Gurruchaga, Miren Jone, Abdelnour, Carla, Hernández, Isabel, Cañabate, Pilar, Alegret, Montserrat, Rodríguez, Isabel, Rosende-Roca, Maitee, Tartari, Juan Pablo, Esteban, Ester, López, Rogelio, Gil, Silvia, Vargas, Liliana, Mauleón, Ana, Espinosa, Ana, Ortega, Gemma, Sanabria, Angela, Pérez, Alba, Alarcón, Emilio, and González-Pérez, Antonio

Subjects
*COVID-19, *COVID-19 pandemic, *MILD cognitive impairment, *PATIENT safety, *DEMENTIA, *CORONAVIRUS disease treatment, *TREATMENT of dementia, *VIRAL pneumonia, *RESEARCH, *RESEARCH methodology, *PATIENT-centered care, *EVALUATION research, *MEDICAL cooperation, *HOLISTIC medicine, *COMPARATIVE studies, *EPIDEMICS, *TELEMEDICINE, *LONGITUDINAL method
Abstract

Background: Fundació ACE is a non-profit organization providing care based on a holistic model to persons with cognitive disorders and their families for 25 years in Barcelona, Spain. Delivering care to this vulnerable population amidst the COVID-19 pandemic has represented a major challenge to our institution.Objective: To share our experience in adapting our model of care to the new situation to ensure continuity of care.Methods: We detail the sequence of events and the actions taken within Fundació ACE to swiftly adapt our face-to-face model of care to one based on telemedicine consultations. We characterize individuals under follow-up by the Memory Unit from 2017 to 2019 and compare the number of weekly visits in 2020 performed before and after the lockdown was imposed.Results: The total number of individuals being actively followed by Fundació ACE Memory Unit grew from 6,928 in 2017 to 8,147 in 2019. Among those newly diagnosed in 2019, most patients had mild cognitive impairment or mild dementia (42% and 25%, respectively). Weekly visits dropped by 60% following the suspension of face-to-face activity. However, by April 24 we were able to perform 78% of the visits we averaged in the weeks before confinement began.Discussion: We have shown that Fundació ACE model of care has been able to successfully adapt to a health and social critical situation as COVID-19 pandemic. Overall, we were able to guarantee the continuity of care while preserving the safety of patients, families, and professionals. We also seized the opportunity to improve our model of care. [ABSTRACT FROM AUTHOR]

Published
2020
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19. Personality Factors and Subjective Cognitive Decline: The FACEHBI Cohort.

Author

Muñoz, Nathalia, Gomà-i-Freixanet, Montserrat, Valero, Sergi, Rodríguez-Gómez, Octavio, Sanabria, Angela, Pérez-Cordón, Alba, Hernández, Isabel, Marquié, Marta, Mir, Iolao, Martín, Elvira, Benaque, Alba, Ruiz, Agustín, Tarraga, Lluís, Boada, Mercè, Alegret, Montserrat, and on behalf of the FACEHBI study

Subjects
PERSONALITY assessment, PERSONALITY questionnaires, COGNITION disorders, COGNITIVE testing, STANDARDIZED tests, LIKES & dislikes
Abstract

Individuals with subjective cognitive decline (SCD) have the perception of memory problems without showing impairment on standardized cognitive tests. SCD has been associated with an increased risk of developing Alzheimer's disease (AD). Neuroticism and openness personality dimensions have also been associated with SCD and AD. From the aforementioned, we aimed to ascertain whether the dimensions and traits defined by the Zuckerman-Kuhlman Personality Questionnaire (ZKPQ) differentiate between individuals with SCD and the general population (GP). A total of 187 participants with SCD and mild affective symptomatology recruited from the Fundació ACE Health Brain Initiative (FACEHBI) project completed the ZKPQ. Each SCD participant was matched by sex and age to an individual from the GP. Both samples included 71 men and 116 women with a mean age of 65.9 years. Results indicated that the SCD group scored significantly lower in Neuroticism-Anxiety and Activity than the GP group. Only Activity remained statistically significant in a multivariate analysis. These findings suggest that individuals with SCD have a low energy level and a dislike for an active and busy life. From the obtained results and knowing additional physical activities may delay the conversion from normal aging to cognitive impairment, we encourage promoting this lifestyle in daily routine. The assessment of personality may result in an SCD plus feature, which may serve as an upgrading strategy for future research. [ABSTRACT FROM AUTHOR]

Published
2020
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21. General practitioners' opinion on early and pre‐dementia diagnosis of AD: A MOPEAD project survey in five European countries: Neuropsychiatry and behavioral neurology/Mild cognitive impairment/Early symptomatic disease.

Author

Sannemann, Lena, Müller, Theresa, Waterink, Lisa, Zwan, Marissa D., Wimo, Anders, Stomrud, Erik, Pino, Susana, Espinosa, Jordi Arrufat, Rodriguez‐Gomez, Octavio, Benaque, Alba, Bon, Jaka, Dron, Amanda, Ferreira, Daniel, Johansson, Gunilla, Dumas, Annette, Georges, Jean, Kramberger, Milica G., Visser, Pieter Jelle, Winblad, Bengt, and Campo, Laura

Abstract

Background: Over the last decade, research efforts have facilitated early detection of dementia and underlying diseases, such as Alzheimer disease (AD). There is growing evidence for the benefits of early diagnosis, including access to education, available treatment and support. On the other hand, the lack of a cure and the fear to stigmatize the patient are among the arguments that speak against early disclosure of a diagnosis. General Practitioners (GPs) are often the first contact person when cognitive changes arrive, and they play a key role in early identification of the disease. Based on the experiences working with GPs as part of the multinational "Models of Patient Engagement for Alzheimer's Disease" (MOPEAD) project, an EU‐funded public‐private study within the Innovative Medicines Initiative (IMI‐2) research agenda, we aimed to assess the current attitude of GPs towards early and pre‐dementia diagnosis for AD at the stage of mild cognitive impairment (MCI) or very mild dementia. Method: We designed a survey to measure the current attitude of GPs towards early and pre‐dementia diagnosis of AD at the MOPEAD sites in five European countries (Germany, Slovenia, Spain, Sweden, and the Netherlands). The questionnaire covered several topics, including attitude towards early diagnosis, diagnostic procedures, resources and opinion on present and future treatment options. Chi‐square tests were carried out to analyze differences among countries. Result: 343 GPs completed the survey. In total, 74% of GPs indicated that they considered an early diagnosis of value. However, only 44% of GPs felt confident in handling the diagnostic procedures for very early dementia and MCI. Currently available pharmacological treatments were mostly regarded as having low benefit, while 68% considered non‐pharmacological treatment options as "beneficial and not sufficiently available". There were country‐specific differences in the GPs' perception of monetary resources (X2(4)=117.26, p <.001) and time (X2(4)=14.84, p >.01) available for the patient. Conclusion: Our findings provide an up‐to‐date overview on GPs' opinion towards early and pre‐dementia diagnosis in five European countries. We show that the majority of GPs considers an early diagnosis beneficial, yet they are faced with country‐specific challenges that can contribute to delayed or missed diagnosis. [ABSTRACT FROM AUTHOR]

Published
2020
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22. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

Author

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, Montrreal, Laura, Antúnez, Carmen, Antonell, Anna, Tankard, Rick M, Bis, Joshua C, Sims, Rebecca, Bellenguez, Céline, Quintela, Inés, González-Perez, Antonio, Calero, Miguel, Franco-Macías, Emilio, Macías, Juan, Blesa, Rafael, Cervera-Carles, Laura, Menéndez-González, Manuel, Frank-García, Ana, Royo, Jose Luís, Moreno, Fermin, Huerto Vilas, Raquel, Baquero, Miquel, Diez-Fairen, Mónica, Lage, Carmen, García-Madrona, Sebastián, García-González, Pablo, Alarcón-Martín, Emilio, Valero, Sergi, Sotolongo-Grau, Oscar, Ullgren, Abbe, Naj, Adam C, Lemstra, Afina W, Benaque, Alba, Pérez-Cordón, Alba, Benussi, Alberto, Rábano, Alberto, Padovani, Alessandro, Squassina, Alessio, De Mendonça, Alexandre, Arias Pastor, Alfonso, Kok, Almar AL, Meggy, Alun, Pastor, Ana Belén, Espinosa, Ana, Corma-Gómez, Anaïs, Martín Montes, Angel, Sanabria, Ángela, DeStefano, Anita L, Schneider, Anja, Haapasalo, Annakaisa, Kinhult Ståhlbom, Anne, Tybjærg-Hansen, Anne, Hartmann, Annette M, Spottke, Annika, Corbatón-Anchuelo, Arturo, Rongve, Arvid, Borroni, Barbara, Arosio, Beatrice, Nacmias, Benedetta, Nordestgaard, Børge G, Kunkle, Brian W, Charbonnier, Camille, Abdelnour, Carla, Masullo, Carlo, Martínez Rodríguez, Carmen, Muñoz-Fernandez, Carmen, Dufouil, Carole, Graff, Caroline, Ferreira, Catarina B, Chillotti, Caterina, Reynolds, Chandra A, Fenoglio, Chiara, Van Broeckhoven, Christine, Clark, Christopher, Pisanu, Claudia, Satizabal, Claudia L, Holmes, Clive, Buiza-Rueda, Dolores, Aarsland, Dag, Rujescu, Dan, Alcolea, Daniel, Galimberti, Daniela, Wallon, David, Seripa, Davide, Grünblatt, Edna, Dardiotis, Efthimios, Düzel, Emrah, Scarpini, Elio, Conti, Elisa, Rubino, Elisa, Gelpi, Ellen, Rodriguez-Rodriguez, Eloy, Duron, Emmanuelle, Boerwinkle, Eric, Ferri, Evelyn, Tagliavini, Fabrizio, Küçükali, Fahri, Pasquier, Florence, Sanchez-Garcia, Florentino, Mangialasche, Francesca, Jessen, Frank, Nicolas, Gaël, Selbæk, Geir, Ortega, Gemma, Chêne, Geneviève, Hadjigeorgiou, Georgios, Rossi, Giacomina, Spalletta, Gianfranco, Giaccone, Giorgio, Grande, Giulia, Binetti, Giuliano, Papenberg, Goran, Hampel, Harald, Bailly, Henri, Zetterberg, Henrik, Soininen, Hilkka, Karlsson, Ida K, Alvarez, Ignacio, Appollonio, Ildebrando, Giegling, Ina, Skoog, Ingmar, Saltvedt, Ingvild, Rainero, Innocenzo, Rosas Allende, Irene, Hort, Jakub, Diehl-Schmid, Janine, Van Dongen, Jasper, Vidal, Jean-Sebastien, Lehtisalo, Jenni, Wiltfang, Jens, Thomassen, Jesper Qvist, Kornhuber, Johannes, Haines, Jonathan L, Vogelgsang, Jonathan, Pineda, Juan A, Fortea, Juan, Popp, Julius, Deckert, Jürgen, Buerger, Katharina, Morgan, Kevin, Fließbach, Klaus, Sleegers, Kristel, Molina-Porcel, Laura, Kilander, Lena, Weinhold, Leonie, Farrer, Lindsay A, Wang, Li-San, Kleineidam, Luca, Farotti, Lucia, Parnetti, Lucilla, Tremolizzo, Lucio, Hausner, Lucrezia, Benussi, Luisa, Froelich, Lutz, Ikram, M Arfan, Deniz-Naranjo, M Candida, Tsolaki, Magda, Rosende-Roca, Maitée, Löwenmark, Malin, Hulsman, Marc, Spallazzi, Marco, Pericak-Vance, Margaret A, Esiri, Margaret, Bernal Sánchez-Arjona, María, Dalmasso, Maria Carolina, Martínez-Larrad, María Teresa, Arcaro, Marina, Nöthen, Markus M, Fernández-Fuertes, Marta, Dichgans, Martin, Ingelsson, Martin, Herrmann, Martin J, Scherer, Martin, Vyhnalek, Martin, Kosmidis, Mary H, Yannakoulia, Mary, Schmid, Matthias, Ewers, Michael, Heneka, Michael T, Wagner, Michael, Scamosci, Michela, Kivipelto, Miia, Hiltunen, Mikko, Zulaica, Miren, Alegret, Montserrat, Fornage, Myriam, Roberto, Natalia, Van Schoor, Natasja M, Seidu, Nazib M, Banaj, Nerisa, Armstrong, Nicola J, Scarmeas, Nikolaos, Scherbaum, Norbert, Goldhardt, Oliver, Hanon, Oliver, Peters, Oliver, Skrobot, Olivia Anna, Quenez, Olivier, Lerch, Ondrej, Bossù, Paola, Caffarra, Paolo, Dionigi Rossi, Paolo, Sakka, Paraskevi, Mecocci, Patrizia, Hoffmann, Per, Holmans, Peter A, Fischer, Peter, Riederer, Peter, Yang, Qiong, Marshall, Rachel, Kalaria, Rajesh N, Mayeux, Richard, Vandenberghe, Rik, Cecchetti, Roberta, Ghidoni, Roberta, Frikke-Schmidt, Ruth, Sorbi, Sandro, Hägg, Sara, Engelborghs, Sebastiaan, Helisalmi, Seppo, Botne Sando, Sigrid, Kern, Silke, Archetti, Silvana, Boschi, Silvia, Fostinelli, Silvia, Gil, Silvia, Mendoza, Silvia, Mead, Simon, Ciccone, Simona, Djurovic, Srdjan, Heilmann-Heimbach, Stefanie, Riedel-Heller, Steffi, Kuulasmaa, Teemu, Del Ser, Teodoro, Lebouvier, Thibaud, Polak, Thomas, Ngandu, Tiia, Grimmer, Timo, Bessi, Valentina, Escott-Price, Valentina, Giedraitis, Vilmantas, Deramecourt, Vincent, Maier, Wolfgang, Jian, Xueqiu, Pijnenburg, Yolande AL, EADB Contributors, GR@ACE Study Group, DEGESCO Consortium, IGAP (ADGC, CHARGE, EADI, GERAD), PGC-ALZ Consortia, 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, and Ruiz, Agustín

Subjects
Aged, 80 and over, Male, Heterozygote, Multifactorial Inheritance, Datasets as Topic, Middle Aged, Polymorphism, Single Nucleotide, Risk Assessment, 3. Good health, Cohort Studies, Amyloid beta-Protein Precursor, Apolipoproteins E, Alzheimer Disease, Risk Factors, Case-Control Studies, Humans, Female, Genetic Predisposition to Disease, Age of Onset, Aged, Follow-Up Studies, Genome-Wide Association Study
Abstract

Funder: Funder: Fundación bancaria ‘La Caixa’ Number: LCF/PR/PR16/51110003 Funder: Grifols SA Number: LCF/PR/PR16/51110003 Funder: European Union/EFPIA Innovative Medicines Initiative Joint Number: 115975 Funder: JPco-fuND FP-829-029 Number: 733051061, Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer's disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer's disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer's disease.

23. Additional file 3 of Association between retinal thickness and β-amyloid brain accumulation in individuals with subjective cognitive decline: Fundació ACE Healthy Brain Initiative

Author

Marquié, Marta, Valero, Sergi, Castilla-Marti, Miguel, Martínez, Joan, Rodríguez-Gómez, Octavio, Sanabria, Ángela, Tartari, Juan Pablo, Monté-Rubio, Gemma C., Sotolongo-Grau, Oscar, Alegret, Montserrat, Pérez-Cordón, Alba, Roberto, Natalia, Rojas, Itziar De, Moreno-Grau, Sonia, Montrreal, Laura, Hernández, Isabel, Maitee Rosende-Roca, Mauleón, Ana, Vargas, Liliana, Abdelnour, Carla, Gil, Silvia, Antonio, Ester Esteban-De, Espinosa, Ana, Ortega, Gemma, Lomeña, Francisco, Pavia, Javier, Vivas, Assumpta, Tejero, Miguel Ángel, Gómez-Chiari, Marta, Simó, Rafael, Ciudin, Andreea, Hernández, Cristina, Orellana, Adelina, Benaque, Alba, Ruiz, Agustín, Lluís Tárraga, and Boada, Mercè

Subjects
10. No inequality
Abstract

Additional file 3. Matrix of correlations of retinal thickness in multiple retinal regions. Description: Values over the diagonal line represent raw Peason’s r correlations between retinal measurements. Values below the diagonal line represent Pearson’s r correlations between retinal measurements adjusted by age, gender, years of education, APOE status and OCT image quality. Statistical significance was set-up at p

24. Additional file 1 of Association between retinal thickness and β-amyloid brain accumulation in individuals with subjective cognitive decline: Fundació ACE Healthy Brain Initiative

Author

Marquié, Marta, Valero, Sergi, Castilla-Marti, Miguel, Martínez, Joan, Rodríguez-Gómez, Octavio, Sanabria, Ángela, Tartari, Juan Pablo, Monté-Rubio, Gemma C., Sotolongo-Grau, Oscar, Alegret, Montserrat, Pérez-Cordón, Alba, Roberto, Natalia, Rojas, Itziar De, Moreno-Grau, Sonia, Montrreal, Laura, Hernández, Isabel, Maitee Rosende-Roca, Mauleón, Ana, Vargas, Liliana, Abdelnour, Carla, Gil, Silvia, Antonio, Ester Esteban-De, Espinosa, Ana, Ortega, Gemma, Lomeña, Francisco, Pavia, Javier, Vivas, Assumpta, Tejero, Miguel Ángel, Gómez-Chiari, Marta, Simó, Rafael, Ciudin, Andreea, Hernández, Cristina, Orellana, Adelina, Benaque, Alba, Ruiz, Agustín, Lluís Tárraga, and Boada, Mercè

Subjects
10. No inequality
Abstract

Additional file 1. Differences between excluded and included participants. Table with demographical, clinical, FBB-PET and OCT differences between those 71 participants excluded from the study and those 129 included in the final sample. A T-test was used to analyse differences on age, years of education, MMSE scores, global SUVR at v0 and all OCT-derived thickness measurements between groups. A Chi-Square test was employed to analyse differences on the distribution of females, APOE genotype, FBB-PET+ at v0 and converters to MCI at v2 between groups. *Statistical significance was set-up at p

25. Additional file 1 of Association between retinal thickness and β-amyloid brain accumulation in individuals with subjective cognitive decline: Fundació ACE Healthy Brain Initiative

Author

Marquié, Marta, Valero, Sergi, Castilla-Marti, Miguel, Martínez, Joan, Rodríguez-Gómez, Octavio, Sanabria, Ángela, Tartari, Juan Pablo, Monté-Rubio, Gemma C., Sotolongo-Grau, Oscar, Alegret, Montserrat, Pérez-Cordón, Alba, Roberto, Natalia, Rojas, Itziar De, Moreno-Grau, Sonia, Montrreal, Laura, Hernández, Isabel, Maitee Rosende-Roca, Mauleón, Ana, Vargas, Liliana, Abdelnour, Carla, Gil, Silvia, Antonio, Ester Esteban-De, Espinosa, Ana, Ortega, Gemma, Lomeña, Francisco, Pavia, Javier, Vivas, Assumpta, Tejero, Miguel Ángel, Gómez-Chiari, Marta, Simó, Rafael, Ciudin, Andreea, Hernández, Cristina, Orellana, Adelina, Benaque, Alba, Ruiz, Agustín, Lluís Tárraga, and Boada, Mercè

Subjects
10. No inequality
Abstract

Additional file 1. Differences between excluded and included participants. Table with demographical, clinical, FBB-PET and OCT differences between those 71 participants excluded from the study and those 129 included in the final sample. A T-test was used to analyse differences on age, years of education, MMSE scores, global SUVR at v0 and all OCT-derived thickness measurements between groups. A Chi-Square test was employed to analyse differences on the distribution of females, APOE genotype, FBB-PET+ at v0 and converters to MCI at v2 between groups. *Statistical significance was set-up at p

26. Additional file 2 of Association between retinal thickness and β-amyloid brain accumulation in individuals with subjective cognitive decline: Fundació ACE Healthy Brain Initiative

Author

Marquié, Marta, Valero, Sergi, Castilla-Marti, Miguel, Martínez, Joan, Rodríguez-Gómez, Octavio, Sanabria, Ángela, Tartari, Juan Pablo, Monté-Rubio, Gemma C., Sotolongo-Grau, Oscar, Alegret, Montserrat, Pérez-Cordón, Alba, Roberto, Natalia, Rojas, Itziar De, Moreno-Grau, Sonia, Montrreal, Laura, Hernández, Isabel, Maitee Rosende-Roca, Mauleón, Ana, Vargas, Liliana, Abdelnour, Carla, Gil, Silvia, Antonio, Ester Esteban-De, Espinosa, Ana, Ortega, Gemma, Lomeña, Francisco, Pavia, Javier, Vivas, Assumpta, Tejero, Miguel Ángel, Gómez-Chiari, Marta, Simó, Rafael, Ciudin, Andreea, Hernández, Cristina, Orellana, Adelina, Benaque, Alba, Ruiz, Agustín, Lluís Tárraga, and Boada, Mercè

Subjects
10. No inequality
Abstract

Additional file 2. Differences between participants coming from the Memory Clinic and those from the Open House Initiative. Description: Demographical, clinical and FBB-PET differences between participants coming from the Memory Clinic and those from the Open House Initiative. A T-test was used to analyse differences on age, years of education, MMSE scores, and global SUVR at v0. A Chi-Square test was employed to analyse differences on the distribution of females, APOE genotype, FBB-PET+ at v0 and converters to MCI at v2 between groups. *Statistical significance was set-up at p

27. Additional file 2 of Association between retinal thickness and β-amyloid brain accumulation in individuals with subjective cognitive decline: Fundació ACE Healthy Brain Initiative

Author

Marquié, Marta, Valero, Sergi, Castilla-Marti, Miguel, Martínez, Joan, Rodríguez-Gómez, Octavio, Sanabria, Ángela, Tartari, Juan Pablo, Monté-Rubio, Gemma C., Sotolongo-Grau, Oscar, Alegret, Montserrat, Pérez-Cordón, Alba, Roberto, Natalia, Rojas, Itziar De, Moreno-Grau, Sonia, Montrreal, Laura, Hernández, Isabel, Maitee Rosende-Roca, Mauleón, Ana, Vargas, Liliana, Abdelnour, Carla, Gil, Silvia, Antonio, Ester Esteban-De, Espinosa, Ana, Ortega, Gemma, Lomeña, Francisco, Pavia, Javier, Vivas, Assumpta, Tejero, Miguel Ángel, Gómez-Chiari, Marta, Simó, Rafael, Ciudin, Andreea, Hernández, Cristina, Orellana, Adelina, Benaque, Alba, Ruiz, Agustín, Lluís Tárraga, and Boada, Mercè

Subjects
10. No inequality
Abstract

Additional file 2. Differences between participants coming from the Memory Clinic and those from the Open House Initiative. Description: Demographical, clinical and FBB-PET differences between participants coming from the Memory Clinic and those from the Open House Initiative. A T-test was used to analyse differences on age, years of education, MMSE scores, and global SUVR at v0. A Chi-Square test was employed to analyse differences on the distribution of females, APOE genotype, FBB-PET+ at v0 and converters to MCI at v2 between groups. *Statistical significance was set-up at p

28. Long runs of homozygosity are associated with Alzheimer's disease.

Author

Moreno-Grau S, Fernández MV, de Rojas I, Garcia-González P, Hernández I, Farias F, Budde JP, Quintela I, Madrid L, González-Pérez A, Montrreal L, Alarcón-Martín E, Alegret M, Maroñas O, Pineda JA, Macías J, Marquié M, Valero S, Benaque A, Clarimón J, Bullido MJ, García-Ribas G, Pástor P, Sánchez-Juan P, Álvarez V, Piñol-Ripoll G, García-Alberca JM, Royo JL, Franco-Macías E, Mir P, Calero M, Medina M, Rábano A, Ávila J, Antúnez C, Real LM, Orellana A, Carracedo Á, Sáez ME, Tárraga L, Boada M, Cruchaga C, and Ruiz A

Subjects
Homozygote, Humans, Polymorphism, Single Nucleotide, Alzheimer Disease genetics
Abstract

Long runs of homozygosity (ROH) are contiguous stretches of homozygous genotypes, which are a footprint of inbreeding and recessive inheritance. The presence of recessive loci is suggested for Alzheimer's disease (AD); however, their search has been poorly assessed to date. To investigate homozygosity in AD, here we performed a fine-scale ROH analysis using 10 independent cohorts of European ancestry (11,919 AD cases and 9181 controls.) We detected an increase of homozygosity in AD cases compared to controls [β AVROH (CI 95%) = 0.070 (0.037-0.104); P = 3.91 × 10 -5 ; β FROH (CI95%) = 0.043 (0.009-0.076); P = 0.013]. ROHs increasing the risk of AD (OR > 1) were significantly overrepresented compared to ROHs increasing protection (p < 2.20 × 10 -16 ). A significant ROH association with AD risk was detected upstream the HS3ST1 locus (chr4:11,189,482‒11,305,456), (β (CI 95%) = 1.09 (0.48 ‒ 1.48), p value = 9.03 × 10 -4 ), previously related to AD. Next, to search for recessive candidate variants in ROHs, we constructed a homozygosity map of inbred AD cases extracted from an outbred population and explored ROH regions in whole-exome sequencing data (N = 1449). We detected a candidate marker, rs117458494, mapped in the SPON1 locus, which has been previously associated with amyloid metabolism. Here, we provide a research framework to look for recessive variants in AD using outbred populations. Our results showed that AD cases have enriched homozygosity, suggesting that recessive effects may explain a proportion of AD heritability.

Published
2021
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29. General practitioners' attitude toward early and pre-dementia diagnosis of AD in five European countries-A MOPEAD project survey.

Author

Sannemann L, Müller T, Waterink L, Zwan M, Wimo A, Stomrud E, Pinó S, Arrufat J, Rodríguez-Gomez O, Benaque A, Bon J, Ferreira D, Johansson G, Dron A, Dumas A, Georges J, Kramberger MG, Visser PJ, Winblad B, Campo L, Boada M, and Jessen F

Abstract

Introduction: General practitioners (GPs) play a key role in early identification of dementia, yet diagnosis is often missed or delayed in primary care. As part of the multinational Models of Patient Engagement for Alzheimer's Disease project, we assess GPs' attitude toward early and pre-dementia diagnosis of AD and explore barriers to early diagnosis., Methods: Our survey covered general attitude toward early diagnosis, diagnostic procedures, resources, and opinion on present and future treatment options across five European countries., Results: In total 343 GPs completed the survey; 74% of GPs indicated that an early diagnosis is valuable. There were country-specific differences in GPs' perceptions of reimbursement and time available for the patient. If a drug were available to slow down the progression of AD, 59% of the GPs would change their implementation of early diagnosis., Discussion: Our findings provide insight into GPs' attitudes by exploring differences in perception and management of early diagnosis., Competing Interests: Laura Campo is a full‐time employee of Eli Lilly Italia S.p.A. and shareholder of Eli Lilly. Anders Wimo works as a consultant for Biogen and has received a research grant from MSD outside of this study. The other authors report no conflicts of interest regarding the publication of this article., (© 2020 The Authors. Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring published by Wiley Periodicals, LLC on behalf of Alzheimer's Association.)

Published
2021
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30. Association between retinal thickness and β-amyloid brain accumulation in individuals with subjective cognitive decline: Fundació ACE Healthy Brain Initiative.

Author

Marquié M, Valero S, Castilla-Marti M, Martínez J, Rodríguez-Gómez O, Sanabria Á, Tartari JP, Monté-Rubio GC, Sotolongo-Grau O, Alegret M, Pérez-Cordón A, Roberto N, de Rojas I, Moreno-Grau S, Montrreal L, Hernández I, Rosende-Roca M, Mauleón A, Vargas L, Abdelnour C, Gil S, Esteban-De Antonio E, Espinosa A, Ortega G, Lomeña F, Pavia J, Vivas A, Tejero MÁ, Gómez-Chiari M, Simó R, Ciudin A, Hernández C, Orellana A, Benaque A, Ruiz A, Tárraga L, and Boada M

Subjects
Aged, Brain diagnostic imaging, Brain metabolism, Female, Humans, Male, Middle Aged, Positron-Emission Tomography, Alzheimer Disease diagnosis, Amyloid beta-Peptides metabolism, Cognitive Dysfunction diagnostic imaging, Retina diagnostic imaging, Retina pathology
Abstract

Background: Optical coherence tomography (OCT) of the retina is a fast and easily accessible tool for the quantification of retinal structural measurements. Multiple studies show that patients with Alzheimer's disease (AD) exhibit thinning in several retinal layers compared to age-matched controls. Subjective cognitive decline (SCD) has been proposed as a risk factor for progression to AD. There is little data about retinal changes in preclinical AD and their correlation with amyloid-β (Aβ) uptake., Aims: We investigated the association of retinal thickness quantified by OCT with Aβ accumulation and conversion to mild cognitive impairment (MCI) over 24 months in individuals with SCD., Methods: One hundred twenty-nine individuals with SCD enrolled in Fundació ACE Healthy Brain Initiative underwent comprehensive neuropsychological testing, OCT scan of the retina and florbetaben (FBB) positron emission tomography (PET) at baseline (v0) and after 24 months (v2). We assessed the association of sixteen retinal thickness measurements at baseline with FBB-PET status (+/-) and global standardize uptake value ratio (SUVR) as a continuous measure at v0 and v2 and their predictive value on clinical status change (conversion to mild cognitive impairment (MCI)) at v2., Results: Mean age of the sample was 64.72 ± 7.27 years; 62.8% were females. Fifteen participants were classified as FBB-PET+ at baseline and 22 at v2. Every 1 μm of increased thickness in the inner nasal macular region conferred 8% and 6% higher probability of presenting a FBB-PET+ status at v0 (OR = 1.08, 95% CI = 1.02-1.14, p = 0.007) and v2 (OR = 1.06, 95% CI = 1.02-1.11, p = 0.004), respectively. Inner nasal macular thickness also positively correlated with global SUVR (at v0: β = 0.23, p = 0.004; at v2: β = 0.26, p = 0.001). No retinal measurements were associated to conversion to MCI over 24 months., Conclusions: Subtle retinal thickness changes in the macular region are already present in SCD and correlate with Aβ uptake.

Published
2020
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31. Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project.

Author

Moreno-Grau S, de Rojas I, Hernández I, Quintela I, Montrreal L, Alegret M, Hernández-Olasagarre B, Madrid L, González-Perez A, Maroñas O, Rosende-Roca M, Mauleón A, Vargas L, Lafuente A, Abdelnour C, Rodríguez-Gómez O, Gil S, Santos-Santos MÁ, Espinosa A, Ortega G, Sanabria Á, Pérez-Cordón A, Cañabate P, Moreno M, Preckler S, Ruiz S, Aguilera N, Pineda JA, Macías J, Alarcón-Martín E, Sotolongo-Grau O, Marquié M, Monté-Rubio G, Valero S, Benaque A, Clarimón J, Bullido MJ, García-Ribas G, Pástor P, Sánchez-Juan P, Álvarez V, Piñol-Ripoll G, García-Alberca JM, Royo JL, Franco E, Mir P, Calero M, Medina M, Rábano A, Ávila J, Antúnez C, Real LM, Orellana A, Carracedo Á, Sáez ME, Tárraga L, Boada M, and Ruiz A

Subjects
Aged, Alzheimer Disease classification, Dementia genetics, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide genetics, Spain, Alzheimer Disease genetics, Endophenotypes, Genetic Loci, Genome-Wide Association Study
Abstract

Introduction: Large variability among Alzheimer's disease (AD) cases might impact genetic discoveries and complicate dissection of underlying biological pathways., Methods: Genome Research at Fundacio ACE (GR@ACE) is a genome-wide study of dementia and its clinical endophenotypes, defined based on AD's clinical certainty and vascular burden. We assessed the impact of known AD loci across endophenotypes to generate loci categories. We incorporated gene coexpression data and conducted pathway analysis per category. Finally, to evaluate the effect of heterogeneity in genetic studies, GR@ACE series were meta-analyzed with additional genome-wide association study data sets., Results: We classified known AD loci into three categories, which might reflect the disease clinical heterogeneity. Vascular processes were only detected as a causal mechanism in probable AD. The meta-analysis strategy revealed the ANKRD31-rs4704171 and NDUFAF6-rs10098778 and confirmed SCIMP-rs7225151 and CD33-rs3865444., Discussion: The regulation of vasculature is a prominent causal component of probable AD. GR@ACE meta-analysis revealed novel AD genetic signals, strongly driven by the presence of clinical heterogeneity in the AD series., (Copyright © 2019 The Authors. Published by Elsevier Inc. All rights reserved.)

Published
2019
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