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1. Prevalence of treated patients with Alzheimer’s disease: current trends and COVID-19 impact

Author: Olazarán, Javier, Carnero-Pardo, Cristóbal, Fortea, Juan, Sánchez-Juan, Pascual, García-Ribas, Guillermo, Viñuela, Félix, Martínez-Lage, Pablo, and Boada, Mercè
Published: 2023
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2. Awareness of Diagnosis in Persons with Early-Stage Alzheimer’s Disease: An Observational Study in Spain

Author: Villarejo-Galende, Alberto, García-Arcelay, Elena, Piñol-Ripoll, Gerard, del Olmo-Rodríguez, Antonio, Viñuela, Félix, Boada, Mercè, Franco-Macías, Emilio, de la Peña, Almudena Ibañez, Riverol, Mario, Puig-Pijoan, Albert, Abizanda-Soler, Pedro, Arroyo, Rafael, Baquero-Toledo, Miquel, Feria-Vilar, Inmaculada, Balasa, Mircea, Berbel, Ángel, Rodríguez-Rodríguez, Eloy, Vieira-Campos, Alba, García-Ribas, Guillermo, Rodrigo-Herrero, Silvia, Lleó, Albert, and Maurino, Jorge
Published: 2022
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3. FORTCARE-MCI study protocol: evaluation of Fortasyn Connect in the management of mild cognitive impairment in primary care.

Author: Arrieta, Enrique, Baz, Pablo, and García-Ribas, Guillermo
Subjects: MILD cognitive impairment, ALZHEIMER'S disease, NEUROPSYCHOLOGICAL tests, ARTIFICIAL intelligence, QUALITY of life
Abstract: Background: Neuropsychiatric symptoms are prevalent in patients with mild cognitive impairment (MCI) and are predictive of the conversion to dementia. Fortasyn Connect, a medical food, has shown efficacy in managing cognitive and behavioral symptoms associated with MCI. Early diagnosis and intervention in primary care are essential for managing MCI. However, real-world prospective studies assessing Fortasyn Connect in MCI are still limited. Methods: This observational, multicenter, prospective study will enroll 150 patients recently diagnosed with MCI by primary care physicians across several regions in Spain. Participants will be followed-up over a 12-month period, with assessments at baseline, 6 months, and 12 months, as per clinical practice. The study aims to evaluate the impact of Fortasyn Connect on neuropsychiatric symptoms, cognition, and health-related quality of life (HRQoL) using validated neuropsychological tests and machine learning (ML) techniques. The primary outcome measure will be changes in neuropsychiatric symptoms using the Neuropsychiatric Inventory Questionnaire (NPI-Q) at 6 months. Secondary outcome measures include further changes in the NPI-Q at 12 months, and changes in cognition (Fototest, and clock-drawing test) and HRQoL (EQ-5D-5L) at 6 and 12 months. Exploratory outcomes will assess speech using an artificial intelligence (AI)-enhanced ML tool, with a correlation analysis of these findings with traditional neuropsychological test results. Conclusion: This study will provide evidence of the effectiveness of Fortasyn Connect in a real-world setting, exploring its potential to stabilize or improve neuropsychiatric symptoms, cognition, and HRQoL in MCI patients. Results will also contribute to the understanding of AI and ML in identifying early biomarkers of cognitive decline, supporting the timely management of MCI. [ABSTRACT FROM AUTHOR]
Published: 2024
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4. Transcranial sonography in atypical parkinsonism: How reliable is it in real clinical practice? A multicentre comprehensive study

Author: Alonso-Canovas, Araceli, Tembl Ferrairó, José Ignacio, Martínez-Torres, Irene, Lopez-Sendon Moreno, Jose Luis, Parees-Moreno, Isabel, Monreal-Laguillo, Enric, Pérez-Torre, Paula, Toledano Delgado, Rafael, García Ribas, Guillermo, Sastre Bataller, Isabel, Masjuan, Jaime, Martinez-Castrillo, Juan Carlos, and Walter, Uwe
Published: 2019
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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. Mendelian Randomisation Confirms the Role of Y-Chromosome Loss in Alzheimer’s Disease Aetiopathogenesis in Men

Author: Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), Instituto de Salud Carlos III, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Ace Alzheimer Center Barcelona, Grifols, Fundación la Caixa, European Commission, European Alzheimer's Disease DNA BioBank, García-González, Pablo, Rojas, Itziar de, Moreno-Grau, Sonia, Montrreal, Laura, Puerta, Raquel, Alarcón-Martín, Emilio, Quintela, Inés, Orellana, Adela, Andrade, Victor, Martino-Adami, Pamela V., Heilmann-Heimbach, Stefanie, Gómez-Garre, Pilar, Periñán, María Teresa, Álvarez, Ignacio, Díez-Fairen, Mónica, Nuñez-Llaves, Raul, Olivé-Roig, Claudia, García-Ribas, Guillermo, Menéndez-González, Manuel, Martínez, Carmen, Aguilar Barberá, Miquel, Buongiorno, Maria Teresa, Franco-Macías, Emilio, Sáez, María Eugenia, Cano, Amanda, Bullido, María Jesús, Real, Luis Miguel, Rodríguez-Rodríguez, Eloy, Royo, José Luis, Álvarez, Victoria, Pastor, Pau, Piñol-Ripoll, Gerard, Mir, Pablo, Calero, Miguel, Medina-Padilla, Miguel, Sánchez-Juan, Pascual, Carracedo, Ángel, Valero, Sergi, Hernández, Isabel, Tárraga, Lluís, Ramírez, Alfredo, Boada, Mercè, Ruiz, Agustín, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), Instituto de Salud Carlos III, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Ace Alzheimer Center Barcelona, Grifols, Fundación la Caixa, European Commission, European Alzheimer's Disease DNA BioBank, García-González, Pablo, Rojas, Itziar de, Moreno-Grau, Sonia, Montrreal, Laura, Puerta, Raquel, Alarcón-Martín, Emilio, Quintela, Inés, Orellana, Adela, Andrade, Victor, Martino-Adami, Pamela V., Heilmann-Heimbach, Stefanie, Gómez-Garre, Pilar, Periñán, María Teresa, Álvarez, Ignacio, Díez-Fairen, Mónica, Nuñez-Llaves, Raul, Olivé-Roig, Claudia, García-Ribas, Guillermo, Menéndez-González, Manuel, Martínez, Carmen, Aguilar Barberá, Miquel, Buongiorno, Maria Teresa, Franco-Macías, Emilio, Sáez, María Eugenia, Cano, Amanda, Bullido, María Jesús, Real, Luis Miguel, Rodríguez-Rodríguez, Eloy, Royo, José Luis, Álvarez, Victoria, Pastor, Pau, Piñol-Ripoll, Gerard, Mir, Pablo, Calero, Miguel, Medina-Padilla, Miguel, Sánchez-Juan, Pascual, Carracedo, Ángel, Valero, Sergi, Hernández, Isabel, Tárraga, Lluís, Ramírez, Alfredo, Boada, Mercè, and Ruiz, Agustín
Abstract: Mosaic loss of chromosome Y (mLOY) is a common ageing-related somatic event and has been previously associated with Alzheimer’s disease (AD). However, mLOY estimation from genotype microarray data only reflects the mLOY degree of subjects at the moment of DNA sampling. Therefore, mLOY phenotype associations with AD can be severely age-confounded in the context of genome-wide association studies. Here, we applied Mendelian randomisation to construct an age-independent mLOY polygenic risk score (mloy-PRS) using 114 autosomal variants. The mloy-PRS instrument was associated with an 80% increase in mLOY risk per standard deviation unit (p = 4.22 × 10−20) and was orthogonal with age. We found that a higher genetic risk for mLOY was associated with faster progression to AD in men with mild cognitive impairment (hazard ratio (HR) = 1.23, p = 0.01). Importantly, mloy-PRS had no effect on AD conversion or risk in the female group, suggesting that these associations are caused by the inherent loss of the Y chromosome. Additionally, the blood mLOY phenotype in men was associated with increased cerebrospinal fluid levels of total tau and phosphorylated tau181 in subjects with mild cognitive impairment and dementia. Our results strongly suggest that mLOY is involved in AD pathogenesis.
Published: 2023

7. La nueva era de las enfermedades neurodegenerativas. La base de los nuevos abordajes

Author: García Ribas, Guillermo, primary, Garay Albizuri, Patricia, additional, Stiauren Fernández, Erik Sturla, additional, Pérez Trapote, Fernando, additional, and Zea Sevilla, María Ascensión, additional
Published: 2023
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8. Protective association of HLA‐DRB1*04 subtypes in neurodegenerative diseases implicates acetylated tau PHF6 sequences

Author: Guen, Yann Le, primary, Luo, Guo, additional, Ambati, Aditya, additional, Damotte, Vincent, additional, Jansen, Iris E, additional, Yu, Eric, additional, Nicolas, Aude, additional, de Rojas, Itziar, additional, Leal, Thiago Peixoto, additional, Miyashita, Akinori, additional, Bellenguez, Céline, additional, Lian, Michelle Mulan, additional, Parveen, Kayenat, additional, Morizono, Takashi, additional, Park, Hyeonseul, additional, Grenier‐Boley, Benjamin, additional, Naito, Tatsuhiko, additional, Küçükali, Fahri, additional, Talyansky, Seth D., additional, Yogeshwar, Selina Marie, additional, Sempere, Vicente, additional, Satake, Wataru, additional, Álvarez‐Martínez, Victoria, additional, Arosio, Beatrice, additional, Belloy, Michael E, additional, Benussi, Luisa, additional, Boland, Anne, additional, Borroni, Barbara, additional, Bullido, María J., additional, Caffarra, Paolo, additional, Clarimon, Jordi, additional, Daniele, Antonio, additional, Darling, Daniel, additional, Debette, Stéphanie, additional, Deleuze, Jean‐François, additional, Dichgans, Martin, additional, Dufouil, Carole, additional, During, Emmanuel, additional, Duzel, Emrah, additional, Galimberti, Daniela, additional, García‐Ribas, Guillermo, additional, García‐Alberca, Jose María, additional, García‐González, Pablo, additional, Giedraitis, Vilmantas, additional, Goldhardt, Oliver, additional, Graff, Caroline, additional, Grunblatt, Edna, additional, Hanon, Olivier, additional, Hausner, Lucrezia, additional, Heilmann‐Heimbach, Stefanie, additional, Holstege, Henne, additional, Hort, Jakub, additional, Jung, Yoo Jin, additional, Jurgen, Deckert, additional, Kern, Silke, additional, Kuulasmaa, Teemu, additional, Lee, Kun Ho, additional, Ling, Ling, additional, Masullo, Carlo, additional, Mecocci, Patrizia, additional, Mehrabian, Shima, additional, de Mendonça, Alexandre, additional, Boada, Mercè, additional, Mir, Pablo, additional, Moebus, Susanne, additional, Moreno, Fermin, additional, Nacmias, Benedetta, additional, Nicolas, Gaël, additional, Niida, Shumpei, additional, Nordestgaard, Børge G., additional, Papenberg, Goran, additional, Papma, Janne M., additional, Parnetti, Lucilla, additional, Pasquier, Florence, additional, Pastor, Pau, additional, Peters, Oliver, additional, Pijnenburg, Yolande A.L., additional, Piñol‐Ripoll, Gerard, additional, Popp, Julius, additional, Molina, Laura, additional, Puerta, Raquel, additional, Pérez‐Tur, Jordi, additional, Rainero, Innocenzo, additional, Real, Luis Miguel, additional, Riedel‐Heller, Steffi G., additional, Rodríguez, Eloy Rodríguez, additional, Royo, José Luís, additional, Rujescu, Dan, additional, Scarmeas, Nikolaos, additional, Scheltens, Philip, additional, Scherbaum, Norbert, additional, Schneider, Anja, additional, Seripa, Davide, additional, Skoog, Ingmar, additional, Solfrizzi, Vincenzo, additional, Spalletta, Gianfranco, additional, Squassina, Alessio, additional, van Swieten, John C, additional, Sanchez‐Valle, Raquel, additional, Tan, Eng‐King, additional, Tegos, Thomas, additional, Teunissen, Charlotte E., additional, Thomassen, Jesper Qvist, additional, Tremolizzo, Lucio, additional, Vyhnalek, Martin, additional, Verhey, Frans R.J., additional, Waern, Margda, additional, Wiltfang, Jens, additional, Zhang, Jing, additional, Zetterberg, Henrik, additional, Blennow, Kaj, additional, Williams, Julie, additional, Amouyel, Philippe, additional, Jessen, Frank, additional, Kehoe, Patrick G, additional, Andreassen, Ole, additional, van Duijn, Cornelia M, additional, Tsolaki, Magda, additional, Sanchez‐Juan, Pascual, additional, Frikke‐Schmidt, Ruth, additional, Sleegers, Kristel, additional, Toda, Tatsushi, additional, Zettergren, Anna, additional, Ingelsson, Martin, additional, Okada, Yukinori, additional, Rossi, Giacomina, additional, Hiltunen, Mikko, additional, Gim, Jungsoo, additional, Ozaki, Kouichi, additional, Sims, Rebecca, additional, Foo, Jia Nee, additional, van der Flier, Wiesje M., additional, Ikeuchi, Takeshi, additional, Ramirez, Alfredo, additional, Mata, Ignacio, additional, Ruiz, Agustin, additional, Gan‐Or, Ziv, additional, Lambert, Jean‐Charles, additional, Greicius, Michael D, additional, and Mignot, Emmanuel, additional
Published: 2022
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9. Quality of Life and the Experience of Living with Early-Stage Alzheimer’s Disease

Author: Villarejo-Galende, Alberto, primary, García-Arcelay, Elena, additional, Piñol-Ripoll, Gerard, additional, del Olmo-Rodríguez, Antonio, additional, Viñuela, Félix, additional, Boada, Mercè, additional, Franco-Macías, Emilio, additional, Ibañez de la Peña, Almudena, additional, Riverol, Mario, additional, Puig-Pijoan, Albert, additional, Abizanda-Soler, Pedro, additional, Arroyo, Rafael, additional, Baquero-Toledo, Miquel, additional, Feria-Vilar, Inmaculada, additional, Balasa, Mircea, additional, Berbel, Ángel, additional, Rodríguez-Rodríguez, Eloy, additional, Vieira-Campos, Alba, additional, García-Ribas, Guillermo, additional, Rodrigo-Herrero, Silvia, additional, Terrancle, Ángeles, additional, Prefasi, Daniel, additional, Lleó, Alberto, additional, and Maurino, Jorge, additional
Published: 2022
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10. A double-blind, randomized, cross-over, placebo-controlled, pilot trial with Sativex in Huntington’s disease

Author: López-Sendón Moreno, Jose Luis, García Caldentey, Juan, Trigo Cubillo, Patricia, Ruiz Romero, Carolina, García Ribas, Guillermo, Alonso Arias, M. A. Alonso, García de Yébenes, María Jesús, Tolón, Rosa María, Galve-Roperh, Ismael, Sagredo, Onintza, Valdeolivas, Sara, Resel, Eva, Ortega-Gutierrez, Silvia, García-Bermejo, María Laura, Fernández Ruiz, Javier, Guzmán, Manuel, and García de Yébenes Prous, Justo
Published: 2016
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11. Does Your Loved One With Cognitive Symptoms Need to See a Doctor? Check It Online

Author: Agüera-Ortiz, Luis, primary, Martín-Carrasco, Manuel, additional, Arriola-Manchola, Enrique, additional, Martínez-Lage, Pablo, additional, Pérez-Martínez, David Andrés, additional, Ojea, Tomás, additional, Soler-López, Begoña, additional, and García-Ribas, Guillermo, additional
Published: 2022
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12. Awareness of Diagnosis in Persons with Early-Stage Alzheimer's Disease: An Observational Study in Spain

Author: Roche, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), European Commission, European Federation of Pharmaceutical Industries and Associations, Instituto de Salud Carlos III, Grifols, Fundación la Caixa, Villarejo-Galende, Alberto, García-Arcelay, Elena, Piñol-Ripoll, Gerard, Olmo-Rodríguez, Antonio del, Viñuela, Félix, Boada, Mercè, Franco-Macías, Emilio, Ibáñez de la Peña, Almudena, Riverol, Mario, Puig-Pijoan, Albert, Abizanda-Soler, Pedro, Arroyo, Rafael, Baquero, Miquel, Feria-Vilar, Inmaculada, Balasa, Mircea, Berbel, Ángel, Rodríguez-Rodríguez, Eloy, Vieira-Campos, Alba, García-Ribas, Guillermo, Rodrigo-Herrero, Silvia, Lleó, Alberto, Maurino, Jorge, Roche, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), European Commission, European Federation of Pharmaceutical Industries and Associations, Instituto de Salud Carlos III, Grifols, Fundación la Caixa, Villarejo-Galende, Alberto, García-Arcelay, Elena, Piñol-Ripoll, Gerard, Olmo-Rodríguez, Antonio del, Viñuela, Félix, Boada, Mercè, Franco-Macías, Emilio, Ibáñez de la Peña, Almudena, Riverol, Mario, Puig-Pijoan, Albert, Abizanda-Soler, Pedro, Arroyo, Rafael, Baquero, Miquel, Feria-Vilar, Inmaculada, Balasa, Mircea, Berbel, Ángel, Rodríguez-Rodríguez, Eloy, Vieira-Campos, Alba, García-Ribas, Guillermo, Rodrigo-Herrero, Silvia, Lleó, Alberto, and Maurino, Jorge
Abstract: [Introduction] Limited information is available on people’s experiences of living with Alzheimer’s disease (AD) at earlier stages. This study assessed awareness of diagnosis among people with early-stage AD and its impact on different person-centered outcome measures., [Methods] We conducted an observational, cross-sectional study in 21 memory clinics in Spain. Persons aged 50–90 years, diagnosed with prodromal or mild AD (NIA/AA criteria), a Mini Mental State Examination (MMSE) score ≥ 22, and a Clinical Dementia Rating-Global score (CDR-GS) of 0.5 or 1.0 were recruited. The Representations and Adjustment to Dementia Index (RADIX) was used to assess participants’ beliefs about their condition and its consequences., [Results] A total of 149 persons with early-stage AD were studied. Mean (SD) age was 72.3 (7.0) years and 50.3% were female. Mean duration of AD was 1.4 (1.8) years. Mean MMSE score was 24.6 (2.1) and 87.2% had a CDR-GS score of 0.5. Most participants (n = 84, 57.5%) used a descriptive term related to specific AD symptoms (e.g., memory difficulties) when asked what they called their condition. Participants aware of their diagnosis using the term AD (n = 66, 45.2%) were younger, had more depressive symptoms, and poorer life satisfaction and quality of life compared to those without awareness of their specific diagnosis. Practical and emotional consequences RADIX scores showed a significant negative correlation with Quality of Life in Alzheimer’s Disease score (rho = − 0.389 and − 0.413, respectively; p < 0.0001). Years of education was the only predictor of awareness of AD diagnosis [OR = 1.04 (95% CI 1.00–1.08); p = 0.029]., [Conclusions] Awareness of diagnosis was a common phenomenon in persons with early-stage AD negatively impacting their quality of life. Understanding illness representations in earlier stages may facilitate implementing optimized care that supports improved quality of life and well-being.
Published: 2022

13. Quality of Life and the Experience of Living with Early-Stage Alzheimer's Disease

Author: Roche, Villarejo-Galende, Alberto, García-Arcelay, Elena, Piñol-Ripoll, Gerard, Olmo-Rodríguez, Antonio del, Viñuela, Félix, Boada, Mercè, Franco-Macías, Emilio, Ibáñez de la Peña, Almudena, Riverol, Mario, Puig-Pijoan, Albert, Abizanda-Soler, Pedro, Arroyo, Rafael, Baquero, Miquel, Feria-Vilar, Inmaculada, Balasa, Mircea, Berbel, Ángel, Rodríguez-Rodríguez, Eloy, Vieira-Campos, Alba, García-Ribas, Guillermo, Rodrigo-Herrero, Silvia, Terrancle, Ángeles, Prefasi, Daniel, Lleó, Alberto, Maurino, Jorge, Roche, Villarejo-Galende, Alberto, García-Arcelay, Elena, Piñol-Ripoll, Gerard, Olmo-Rodríguez, Antonio del, Viñuela, Félix, Boada, Mercè, Franco-Macías, Emilio, Ibáñez de la Peña, Almudena, Riverol, Mario, Puig-Pijoan, Albert, Abizanda-Soler, Pedro, Arroyo, Rafael, Baquero, Miquel, Feria-Vilar, Inmaculada, Balasa, Mircea, Berbel, Ángel, Rodríguez-Rodríguez, Eloy, Vieira-Campos, Alba, García-Ribas, Guillermo, Rodrigo-Herrero, Silvia, Terrancle, Ángeles, Prefasi, Daniel, Lleó, Alberto, and Maurino, Jorge
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.
Published: 2022

14. Genomic Characterization of Host Factors Related to SARS-CoV-2 Infection in People with Dementia and Control Populations: The GR@ACE/DEGESCO Study

Author: Rojas, Itziar de, Hernández, Isabel, Montrreal, Laura, Quintela, Inés, Calero, Miguel, Royo, José Luis, Huerto Vilas, Raquel, González-Pérez, Antonio, Franco-Macías, Emilio, Macias, Juan, Menéndez-González, Manuel, Frank-García, Ana, Díez-Fairen, Mónica, Lage, Carmen, García-Madrona, Sebastián, Aguilera, Nuria, Garcia-González, Pablo, Puerta, Raquel, Sotolongo-Grau, Oscar, Alonso-Lana, Silvia, Rábano, Alberto, Arias Pastor, Alfonso, Pastor, Ana Belén, Corma-Gómez, Anaïs, Martin Montes, Ángel, Martínez Rodríguez, Carmen, Buiza-Rueda, Dolores, Periñán, María Teresa, Rodríguez-Rodríguez, Eloy, Álvarez, Ignacio, Rosas Allende, Irene, Pineda, Juan A., Bernal Sánchez-Arjona, María, Fernández-Fuertes, Marta, Mendoza, Silvia, Ser, Teodoro del, GR@ACE, DEGESCO Consortium, García-Ribas, Guillermo, Sanchez-Juan, Pascual, Pastor, Pau, Bullido, María Jesús, Álvarez, Victoria, Real, Luis M., Mir, Pablo, Piñol-Ripoll, Gerard, García-Alberca, José María, Medina, Miguel, Orellana, Adelina, Butler, Christopher R., Marquie, Marta, Sáez, María Eugenia, Carracedo, Ángel, Tárraga, Lluís, Boada, Mercè, Ruiz, Agustín, Instituto de Salud Carlos III, Unión Europea, Grifols (Spain), Fundación La Caixa, Fundació ACE, Centro de Investigación Biomédica en Red - CIBERNED (Enfermedades Neurodegenerativas), Fundación Reina Sofía, Grifols, La Caixa, Ace Alzheimer Center Barcelona, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), European Commission, Rojas, Itziar de [0000-0002-2148-381X], Calero, Miguel [0000-0001-5366-3324], Menéndez-González, Manuel [0000-0002-5218-0774], Díez-Fairen, Mónica [0000-0003-1882-0309], Rábano, Alberto [0000-0001-9320-6566], Rodríguez-Rodríguez, Eloy [0000-0001-7742-677X], Álvarez, Ignacio [0000-0002-8537-3935], Bullido, María Jesús [0000-0002-6477-1117], Álvarez, Victoria [0000-0002-1916-2523], Real, Luis M. [0000-0003-4932-7429], Medina, Miguel [0000-0002-7016-5340], Butler, Christopher R. [0000-0002-7502-9284], Sáez, María Eugenia [0000-0001-9299-2534], Carracedo, Ángel [0000-0003-1085-8986], Ruiz, Agustín [0000-0003-2633-2495], Universidad de Cantabria, Rojas, Itziar de, Calero, Miguel, Menéndez-González, Manuel, Díez-Fairen, Mónica, Rábano, Alberto, Rodríguez-Rodríguez, Eloy, Álvarez, Ignacio, Bullido, María Jesús, Álvarez, Victoria, Real, Luis M., Medina, Miguel, Butler, Christopher R., Sáez, María Eugenia, Carracedo, Ángel, Ruiz, Agustín, and UAM. Departamento de Biología Molecular
Subjects: SARS-CoV-2, COVID-19, GWAS, GR@ACE/DEGESCO, dementia, APOE, Medicine (miscellaneous), Biología y Biomedicina / Biología, Article, Medicine
Abstract: Emerging studies have suggested several chromosomal regions as potential host genetic factors involved in the susceptibility to SARS-CoV-2 infection and disease outcome. We nested a COVID-19 genome-wide association study using the GR@ACE/DEGESCO study, searching for susceptibility factors associated with COVID-19 disease. To this end, we compared 221 COVID-19 confirmed cases with 17,035 individuals in whom the COVID-19 disease status was unknown. Then, we performed a meta-analysis with the publicly available data from the COVID-19 Host Genetics Initiative. Because the APOE locus has been suggested as a potential modifier of COVID-19 disease, we added sensitivity analyses stratifying by dementia status or by disease severity. We confirmed the existence of the 3p21.31 region (LZTFL1, SLC6A20) implicated in the susceptibility to SARS-CoV-2 infection and TYK2 gene might be involved in COVID-19 severity. Nevertheless, no statistically significant association was observed in the COVID-19 fatal outcome or in the stratified analyses (dementia-only and non-dementia strata) for the APOE locus not supporting its involvement in SARS-CoV-2 pathobiology or COVID-19 prognosis., We would like to thank patients and controls who participated in this project. The present work has been performed as part of the doctoral program of I. de Rojas at the Universitat de Barcelona (Barcelona, Spain) supported by national grant from the Instituto de Salud Carlos III FI20/00215. The Genome Research @ Fundació ACE project (GR@ACE) is supported by Grifols SA, Fundación bancaria ‘La Caixa’, Fundació ACE, and CIBERNED. The Vallecas Project is supported by Queen Sofia Foundation and the Instituto de Salud Carlos III. The position held by SA-L is funded by Instituto de Salud Carlos III (Co-funded by European Social Fund “Investing in your future”) Sara Borrell Contract (CD19/00232). A.R. and M.B. receive support from the European Union/EFPIA Innovative Medicines Initiative Joint undertaking ADAPTED and MOPEAD projects (grant numbers 115975 and 115985, respectively). M.B. and A.R. are also supported by national grants PI13/02434, PI16/01861, PI17/01474, PI19/01240 and PI19/01301. Acción Estratégica en Salud is integrated into the Spanish National R + D + I Plan and funded by ISCIII (Instituto de Salud Carlos III)–Subdirección General de Evaluación and the Fondo Europeo de Desarrollo Regional (FEDER–‘Una manera de hacer Europa’). Some control samples and data from patients included in this study were provided in part by the National DNA Bank Carlos III (www.bancoadn.org, accessed date: 1 October 2021, University of Salamanca, Spain) and Hospital Universitario Virgen de Valme (Sevilla, Spain); they were processed following standard operating procedures with the appropriate approval of the Ethical and Scientific Committee. This research has been conducted using the COVID-19 Host Genetic Initiative public resource obtained through the web site (https://www.covid19hg.org/results/, accessed date: 1 October 2021).
Published: 2021

15. De Novo PS1 Mutation (Pro436Gln) in a Very Early-Onset Posterior Variant of Alzheimer’s Disease Associated with Spasticity: A Case Report

Author: Agüero, Pablo, primary, Sainz, María José, additional, Téllez, Raquel, additional, Lorda, Isabel, additional, Ávila, Almudena, additional, García-Ribas, Guillermo, additional, Rodríguez, Patricia Paredes, additional, and Gómez-Tortosa, Estrella, additional
Published: 2021
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16. Quantifying Knowledge of Alzheimer's Disease: an Analysis of the Psychometric Properties of the Alzheimer's Disease Knowledge Scale

Author: Neurociencias, Neurozientziak, García Ribas, Guillermo, García Arcelay, Elena, Montoya, Alonso, Maurino, Jorge, Ballesteros Rodríguez, Francisco Javier, Neurociencias, Neurozientziak, García Ribas, Guillermo, García Arcelay, Elena, Montoya, Alonso, Maurino, Jorge, and Ballesteros Rodríguez, Francisco Javier
Abstract: Introduction: The Alzheimer's Disease Knowledge Scale (ADKS) is one of the most popular instruments for assessing a person's knowledge regarding Alzheimer's disease (AD). The objective of this study was to explore ADKS item characteristics with item response theory (IRT) procedures. Methods: A noninterventional web-based study was conducted. A nonparametric IRT procedure, Mokken analysis, was used to explore the underlying latent structure of the ADKS and ADKS item characteristics regarding scalability and violations of the monotone homogeneity (MH) model. A random-effects meta-analysis was implemented that combined ADKS scores from independent studies. Results: A total of 447 employees of a pharmaceutical company participated in the study. The mean ADKS score was 21.2 (SD 2.8). Mokken analysis showed that most ADKS items (22 of 30) do not fit to any scale and can be considered to be scale independent. Two items (#1: particularly prone to depression; #20: depression can be mistaken for AD) fit to a domain relating to depression, another two items (#2: mental exercise can prevent AD development; #8: benefit of psychotherapy) can be related to potential prevention and improvement, and four items (#12: poor nutrition can make the symptoms worse; #18: high cholesterol may increase the risk of AD; #26: high blood pressure may increase the risk of AD; #27: genes can only partially account for AD development) fit to a risk factor domain. As expected from those results, neither the overall scale (H = 0.033) nor its items showed appropriate scalability index values, suggesting that ADKS does not fit to a MH model. Eleven items showed violations of the assumptions of the MH model. The meta-analytical average score was 21.78 (95% CI 20.67-22.90), with healthcare professionals and caregivers showing the highest levels of AD knowledge. Conclusion: Although the ADKS does not present a unidimensional structure, its independent items together provide a comprehensive spectrum of inf
Published: 2021

17. 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, Monica, 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, 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, García-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, Universitat Autònoma de Barcelona, 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, Monica, 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, 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, García-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, and Universitat Autònoma de Barcelona
Abstract: 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. Known genetic loci account for only a fraction of the genetic contribution to Alzheimer's disease. Here, the authors have performed a large genome-wide meta-analysis comprising 409,435 individuals to discover 6 new loci and demonstrate the efficacy of an Alzheimer's disease polygenic risk score.
Published: 2021

18. Genomic Characterization of Host Factors Related to SARS-CoV-2 Infection in People with Dementia and Control Populations: The GR@ACE/DEGESCO Study

Author: Instituto de Salud Carlos III, Grifols, La Caixa, Ace Alzheimer Center Barcelona, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), Fundación Reina Sofía, European Commission, Rojas, Itziar de [0000-0002-2148-381X], Calero, Miguel [0000-0001-5366-3324], Menéndez-González, Manuel [0000-0002-5218-0774], Díez-Fairen, Mónica [0000-0003-1882-0309], Rábano, Alberto [0000-0001-9320-6566], Rodríguez-Rodríguez, Eloy [0000-0001-7742-677X], Álvarez, Ignacio [0000-0002-8537-3935], Bullido, María Jesús [0000-0002-6477-1117], Álvarez, Victoria [0000-0002-1916-2523], Real, Luis M. [0000-0003-4932-7429], Medina, Miguel [0000-0002-7016-5340], Butler, Christopher R. [0000-0002-7502-9284], Sáez, María Eugenia [0000-0001-9299-2534], Carracedo, Ángel [0000-0003-1085-8986], Ruiz, Agustín [0000-0003-2633-2495], Rojas, Itziar de, Hernández, Isabel, Montrreal, Laura, Quintela, Inés, Calero, Miguel, Royo, José Luis, Huerto Vilas, Raquel, González-Pérez, Antonio, Franco-Macías, Emilio, Macías Sánchez, Juan, Menéndez-González, Manuel, Frank-García, Ana, Díez-Fairen, Mónica, Lage, Carmen, García-Madrona, Sebastián, Aguilera, Nuria, García-González, Pablo, Puerta, Raquel, Sotolongo-Grau, Oscar, Alonso-Lana, Silvia, Rábano, Alberto, Arias Pastor, Alfonso, Pastor, Ana Belén, Corma-Gómez, Anaïs, Martin Montes, Ángel, Martínez Rodríguez, Carmen, Buiza-Rueda, Dolores, Periñán, María Teresa, Rodríguez-Rodríguez, Eloy, Álvarez, Ignacio, Rosas Allende, Irene, Pineda, Juan A., Bernal Sánchez-Arjona, María, Fernández-Fuertes, Marta, Mendoza, Silvia, Ser, Teodoro del, GR@ACE, DEGESCO Consortium, García-Ribas, Guillermo, Sánchez-Juan, Pascual, Pastor, Pau, Bullido, María Jesús, Álvarez, Victoria, Real, Luis Miguel, Mir, Pablo, Piñol-Ripoll, Gerard, García-Alberca, José María, Medina, Miguel, Orellana, Adelina, Butler, Christopher R., Marquié, Marta, Sáez, María Eugenia, Carracedo, Ángel, Tárraga, Lluís, Boada, Mercè, Ruiz, Agustín, Instituto de Salud Carlos III, Grifols, La Caixa, Ace Alzheimer Center Barcelona, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), Fundación Reina Sofía, European Commission, Rojas, Itziar de [0000-0002-2148-381X], Calero, Miguel [0000-0001-5366-3324], Menéndez-González, Manuel [0000-0002-5218-0774], Díez-Fairen, Mónica [0000-0003-1882-0309], Rábano, Alberto [0000-0001-9320-6566], Rodríguez-Rodríguez, Eloy [0000-0001-7742-677X], Álvarez, Ignacio [0000-0002-8537-3935], Bullido, María Jesús [0000-0002-6477-1117], Álvarez, Victoria [0000-0002-1916-2523], Real, Luis M. [0000-0003-4932-7429], Medina, Miguel [0000-0002-7016-5340], Butler, Christopher R. [0000-0002-7502-9284], Sáez, María Eugenia [0000-0001-9299-2534], Carracedo, Ángel [0000-0003-1085-8986], Ruiz, Agustín [0000-0003-2633-2495], Rojas, Itziar de, Hernández, Isabel, Montrreal, Laura, Quintela, Inés, Calero, Miguel, Royo, José Luis, Huerto Vilas, Raquel, González-Pérez, Antonio, Franco-Macías, Emilio, Macías Sánchez, Juan, Menéndez-González, Manuel, Frank-García, Ana, Díez-Fairen, Mónica, Lage, Carmen, García-Madrona, Sebastián, Aguilera, Nuria, García-González, Pablo, Puerta, Raquel, Sotolongo-Grau, Oscar, Alonso-Lana, Silvia, Rábano, Alberto, Arias Pastor, Alfonso, Pastor, Ana Belén, Corma-Gómez, Anaïs, Martin Montes, Ángel, Martínez Rodríguez, Carmen, Buiza-Rueda, Dolores, Periñán, María Teresa, Rodríguez-Rodríguez, Eloy, Álvarez, Ignacio, Rosas Allende, Irene, Pineda, Juan A., Bernal Sánchez-Arjona, María, Fernández-Fuertes, Marta, Mendoza, Silvia, Ser, Teodoro del, GR@ACE, DEGESCO Consortium, García-Ribas, Guillermo, Sánchez-Juan, Pascual, Pastor, Pau, Bullido, María Jesús, Álvarez, Victoria, Real, Luis Miguel, Mir, Pablo, Piñol-Ripoll, Gerard, García-Alberca, José María, Medina, Miguel, Orellana, Adelina, Butler, Christopher R., Marquié, Marta, Sáez, María Eugenia, Carracedo, Ángel, Tárraga, Lluís, Boada, Mercè, and Ruiz, Agustín
Abstract: Emerging studies have suggested several chromosomal regions as potential host genetic factors involved in the susceptibility to SARS-CoV-2 infection and disease outcome. We nested a COVID-19 genome-wide association study using the GR@ACE/DEGESCO study, searching for susceptibility factors associated with COVID-19 disease. To this end, we compared 221 COVID-19 confirmed cases with 17,035 individuals in whom the COVID-19 disease status was unknown. Then, we performed a meta-analysis with the publicly available data from the COVID-19 Host Genetics Initiative. Because the APOE locus has been suggested as a potential modifier of COVID-19 disease, we added sensitivity analyses stratifying by dementia status or by disease severity. We confirmed the existence of the 3p21.31 region (LZTFL1, SLC6A20) implicated in the susceptibility to SARS-CoV-2 infection and TYK2 gene might be involved in COVID-19 severity. Nevertheless, no statistically significant association was observed in the COVID-19 fatal outcome or in the stratified analyses (dementia-only and non-dementia strata) for the APOE locus not supporting its involvement in SARS-CoV-2 pathobiology or COVID-19 prognosis.
Published: 2021

19. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

Author: Instituto de Salud Carlos III, Grifols, La Caixa, European Research Council, Pérez-Tur, Jordi [0000-0002-9111-1712], Rojas, Itziar de, Moreno-Grau, Sonia, Tesi, Niccolo, Grenier-Boley, Benjamin, Andrade, Victor, Jansen, Iris E., Pedersen, N. L., Stringa, N., Zettergren, Anna, Hernández, Isabel, Montrreal, Laura, Rossi, Giacomina, Tankard, R. M., Wiltfang, J., Giegling, Ina, Seidu, N. M., Dalmasso, Maria Carolina, Benussi, A., Boschi, Silvia, Sáez, María Eugenia, Binetti, Giuliano, Royo, José Luis, Pérez-Tur, Jordi, Spalletta, Gianfranco, Corbaton-Anchuelo, A., Froelich, L., Satizabal, Claudia L., Hagg, S., Ortega, G., Peters, Oliver, Vogelgsang, Jonathan, Serrano-Rios, M., Gil, S., Djurovic, Srdjan, Van Dongen, Jasper, Deramecourt, V., Kalaria, R. N., Wang, L. S., Goldhardt, O., Charbonnier, Camille, Farotti, Lucia, Kornhuber, Johannes, Andreassen, Ole A., Álvarez, Victoria, Herrmann, Martin J., Pasquier, Florence, Calero, Miguel, Holmes, Clive, Haapasalo, Annakaisa, Scherbaum, Norbert, Scheltens, Philip, Caffarra, P., Pineda, Juan A., Del Ser, Teodoro, Hort, Jakub, Espinosa, A., Bullido, María Jesús, Hampel, Harald, Medina, Miguel, Williams, Julie, Sims, Rebecca, Martinez-Larrad, M. T., Riederer, Peter, Esiri, M., Botne Sando, S., Grunblatt, E., Hoffmann, Per, Hiltunen, Mikko, Kern, Silke, Mendoza, Silvia, Kilander, Lena, Jessen, F., Ghidoni, R., Giedraitis, Vilmantas, Molina-Porcel, Laura, Sánchez-Juan, Pascual, Schmid, Matthias, van Duijn, Cornelia M., Antonell, A., Mir, Pablo, Moreno, F., Ferreira, Catarina B., Skrobot, Olivia, Sanchez-Valle, R., Chene, G., Duron, Emmanuelle, Martin Montes, Ángel, Ciccone, Simona, Piñol-Ripoll, Gerard, Ngandu, Tiia, Dardiotis, Efthimios, Scherer, Martin, Arosio, Beatrice, Meggy, A., Sotolongo-Grau, Oscar, Selbaek, Geir, Aarsland, D., Seshadri, Sudha, Bailly, Henri, Sánchez-García, Florentino, Roberto, Natalia, Armstrong, Nicola J., Farrer, Lindsay A., Popp, Julius, Riedel-Heller, Steffi, Fernández-Fuertes, Marta, Scamosci, Michela, Alcolea, Daniel, Rosas Allende, Irene, Marquié, Marta, Benussi, Luisa, Ewers, Michael, Antúnez, Carmen, van Broeckhoven, Christine, Masullo, C., Vyhnalek, Martin, Bossu, Paola, Appollonio, I., Mayeux, R., Lerch, Ondrej, Rábano, Alberto, Quenez, Olivier, Schneider, Anja, Wallon, David, Macías Sánchez, Juan, PGC-ALZ consortia, Yang, Q., Helisalmi, Seppo, Huisman, M., Lambert, Jean-Charles, Kehoe, Patrick G., Heneka, Michael T., DEGESCO consortium, Papenberg, Goran, Lowenmark, M., Frikke-Schmidt, Ruth, Fornage, Myriam, Kunkle, Brian W., Heilmann-Heimbach, Stefanie, Posthuma, Danielle, Tremolizzo, Lucio, Amouyel, Philippe, Franco-Macías, Emilio, Munoz-Fernandez, C., Sorbi, Sandro, Küçükali, Fahri, Dionigi Rossi, P., Huerto Vilas, Raquel, Spallazzi, Marco, Alarcón-Martín, Emilio, Maier, Wolfgang, de Mendonça, Alexandre, The GR@ACE study group, Benaque, Alba, EADB contributors, IGAP (ADGC, CHARGE, EADI, GERAD), van der Lee, Sven J., DeStefano, Anita, Lleó, Alberto, Kosmidis, Mary H., Rongve, A., Nicolas, Gael, Escott-Price, Valentina, Tybjaerg-Hansen, Anne, Chillotti, Caterina, Pastor, Pau, Buiza-Rueda, Dolores, Alegret, Montserrat, Lage, Carmen, Holmans, Peter A., Polak, Thomas, Pastor, Ana Belén, Nöthen, Markus M., García-Ribas, Guillermo, Pijnenburg, Yolande A L, Vidal, Jean-Sebastien, Squassina, Alessio, Kuulasmaa, Teemu, Pericak-Vance, M. A., Pisanu, Claudia, Fliessbach, Klaus, Grimmer, Timo, Galimberti, Daniela, Parnetti, L., López de Munain, Adolfo, Soininen, Hilkka, Carracedo, Ángel, Deckert, Jurgen, Karlsson, I. K., Buerger, Katharina, Clark, Christopher, Cecchetti, Roberta, Fostinelli, Silvia, Deniz-Naranjo, M. C., Engelborghs, S., Álvarez, Ignacio, Sakka, Paraskevi, Thomassen, Jesper Qvist, Ramirez, A., Holstege, Henne, Marshall, Rachel, Haines, Jonathan L., Hulsman, Marc, Kleineidam, Luca, Ferri, E., Pérez-Cordon, Alba, Menéndez-González, Manuel, van der Flier, Wiesje M., Rainero, Innocenzo, Rujescu, D., Wagner, Michael, Corma-Gómez, Anaïs, Lebouvier, T., Ruiz, Agustín, Vandenberghe, Rik, Weinhold, Leonie, Padovani, Alessandro, Diehl-Schmid, Janine, Mead, Simon, Fenoglio, Chiara, Conti, Elisa, Díez-Fairen, Mónica, Fischer, Peter, Abdelnour, Carla, Giaccone, G., González-Pérez, Antonio, Hartmann, Annette M., Hadjigeorgiou, Georgios, Zulaica, M., Sleegers, Kristel, Martínez Rodríguez, Carmen, García-González, Pablo, Rubino, Elisa, Bis, Joshua C., Orellana, Adelina, Zetterberg, Henrik, Schellenberg, Gerard D., Borroni, Barbara, Sanabria, Angela, Fortea, J., Reynolds, C. A., Gelpi, E., Bernal Sánchez-Arjona, María, Boerwinkle, Eric, Mather, K. A., Jian, X., Saltvedt, Ingvild, Frank-García, Ana, Rosende-Roca, Maitee, Kinhult Stahlbom, Anne, Hanon, Olivier, Skoog, Ingmar, Kivipelto, Miia, Lehtisalo, Jenni, García-Alberca, José María, Dufouil, Carole, Bellenguez, Celine, Ingelsson, Martin, Nacmias, B., Spottke, Annika, Ullgren, Abbe, Hausner, Lucrezia, Arias Pastor, Alfonso, Tsolaki, Magda, Seripa, Davide, Naj, A. C., Clarimón, Jordi, Nordestgaard, Borge G., Valero, Sergi, van Schoor, N. M., Scarpini, E., Graff, Caroline, Boada, Mercè, Tagliavini, F., Scarmeas, N., García-Madrona, Sebastián, Yannakoulia, Mary, Banaj, Nerisa, Blennow, Kaj, Duzel, Emrah, Tárraga, Lluís, Lemstra, A. W., Morgan, K., Kok, A. A. L., Bessi, Valentina, Baquero, Miquel, Rodríguez-Rodríguez, Eloy, Cervera-Carles, Laura, Archetti, Silvana, Grande, Giulia, Dichgans, Martin, Arcaro, Marina, Blesa, Rafael, Real, Luis Miguel, Ikram, M. Arfan, Mangialasche, Francesca, Quintela, Inés, Instituto de Salud Carlos III, Grifols, La Caixa, European Research Council, Pérez-Tur, Jordi [0000-0002-9111-1712], Rojas, Itziar de, Moreno-Grau, Sonia, Tesi, Niccolo, Grenier-Boley, Benjamin, Andrade, Victor, Jansen, Iris E., Pedersen, N. L., Stringa, N., Zettergren, Anna, Hernández, Isabel, Montrreal, Laura, Rossi, Giacomina, Tankard, R. M., Wiltfang, J., Giegling, Ina, Seidu, N. M., Dalmasso, Maria Carolina, Benussi, A., Boschi, Silvia, Sáez, María Eugenia, Binetti, Giuliano, Royo, José Luis, Pérez-Tur, Jordi, Spalletta, Gianfranco, Corbaton-Anchuelo, A., Froelich, L., Satizabal, Claudia L., Hagg, S., Ortega, G., Peters, Oliver, Vogelgsang, Jonathan, Serrano-Rios, M., Gil, S., Djurovic, Srdjan, Van Dongen, Jasper, Deramecourt, V., Kalaria, R. N., Wang, L. S., Goldhardt, O., Charbonnier, Camille, Farotti, Lucia, Kornhuber, Johannes, Andreassen, Ole A., Álvarez, Victoria, Herrmann, Martin J., Pasquier, Florence, Calero, Miguel, Holmes, Clive, Haapasalo, Annakaisa, Scherbaum, Norbert, Scheltens, Philip, Caffarra, P., Pineda, Juan A., Del Ser, Teodoro, Hort, Jakub, Espinosa, A., Bullido, María Jesús, Hampel, Harald, Medina, Miguel, Williams, Julie, Sims, Rebecca, Martinez-Larrad, M. T., Riederer, Peter, Esiri, M., Botne Sando, S., Grunblatt, E., Hoffmann, Per, Hiltunen, Mikko, Kern, Silke, Mendoza, Silvia, Kilander, Lena, Jessen, F., Ghidoni, R., Giedraitis, Vilmantas, Molina-Porcel, Laura, Sánchez-Juan, Pascual, Schmid, Matthias, van Duijn, Cornelia M., Antonell, A., Mir, Pablo, Moreno, F., Ferreira, Catarina B., Skrobot, Olivia, Sanchez-Valle, R., Chene, G., Duron, Emmanuelle, Martin Montes, Ángel, Ciccone, Simona, Piñol-Ripoll, Gerard, Ngandu, Tiia, Dardiotis, Efthimios, Scherer, Martin, Arosio, Beatrice, Meggy, A., Sotolongo-Grau, Oscar, Selbaek, Geir, Aarsland, D., Seshadri, Sudha, Bailly, Henri, Sánchez-García, Florentino, Roberto, Natalia, Armstrong, Nicola J., Farrer, Lindsay A., Popp, Julius, Riedel-Heller, Steffi, Fernández-Fuertes, Marta, Scamosci, Michela, Alcolea, Daniel, Rosas Allende, Irene, Marquié, Marta, Benussi, Luisa, Ewers, Michael, Antúnez, Carmen, van Broeckhoven, Christine, Masullo, C., Vyhnalek, Martin, Bossu, Paola, Appollonio, I., Mayeux, R., Lerch, Ondrej, Rábano, Alberto, Quenez, Olivier, Schneider, Anja, Wallon, David, Macías Sánchez, Juan, PGC-ALZ consortia, Yang, Q., Helisalmi, Seppo, Huisman, M., Lambert, Jean-Charles, Kehoe, Patrick G., Heneka, Michael T., DEGESCO consortium, Papenberg, Goran, Lowenmark, M., Frikke-Schmidt, Ruth, Fornage, Myriam, Kunkle, Brian W., Heilmann-Heimbach, Stefanie, Posthuma, Danielle, Tremolizzo, Lucio, Amouyel, Philippe, Franco-Macías, Emilio, Munoz-Fernandez, C., Sorbi, Sandro, Küçükali, Fahri, Dionigi Rossi, P., Huerto Vilas, Raquel, Spallazzi, Marco, Alarcón-Martín, Emilio, Maier, Wolfgang, de Mendonça, Alexandre, The GR@ACE study group, Benaque, Alba, EADB contributors, IGAP (ADGC, CHARGE, EADI, GERAD), van der Lee, Sven J., DeStefano, Anita, Lleó, Alberto, Kosmidis, Mary H., Rongve, A., Nicolas, Gael, Escott-Price, Valentina, Tybjaerg-Hansen, Anne, Chillotti, Caterina, Pastor, Pau, Buiza-Rueda, Dolores, Alegret, Montserrat, Lage, Carmen, Holmans, Peter A., Polak, Thomas, Pastor, Ana Belén, Nöthen, Markus M., García-Ribas, Guillermo, Pijnenburg, Yolande A L, Vidal, Jean-Sebastien, Squassina, Alessio, Kuulasmaa, Teemu, Pericak-Vance, M. A., Pisanu, Claudia, Fliessbach, Klaus, Grimmer, Timo, Galimberti, Daniela, Parnetti, L., López de Munain, Adolfo, Soininen, Hilkka, Carracedo, Ángel, Deckert, Jurgen, Karlsson, I. K., Buerger, Katharina, Clark, Christopher, Cecchetti, Roberta, Fostinelli, Silvia, Deniz-Naranjo, M. C., Engelborghs, S., Álvarez, Ignacio, Sakka, Paraskevi, Thomassen, Jesper Qvist, Ramirez, A., Holstege, Henne, Marshall, Rachel, Haines, Jonathan L., Hulsman, Marc, Kleineidam, Luca, Ferri, E., Pérez-Cordon, Alba, Menéndez-González, Manuel, van der Flier, Wiesje M., Rainero, Innocenzo, Rujescu, D., Wagner, Michael, Corma-Gómez, Anaïs, Lebouvier, T., Ruiz, Agustín, Vandenberghe, Rik, Weinhold, Leonie, Padovani, Alessandro, Diehl-Schmid, Janine, Mead, Simon, Fenoglio, Chiara, Conti, Elisa, Díez-Fairen, Mónica, Fischer, Peter, Abdelnour, Carla, Giaccone, G., González-Pérez, Antonio, Hartmann, Annette M., Hadjigeorgiou, Georgios, Zulaica, M., Sleegers, Kristel, Martínez Rodríguez, Carmen, García-González, Pablo, Rubino, Elisa, Bis, Joshua C., Orellana, Adelina, Zetterberg, Henrik, Schellenberg, Gerard D., Borroni, Barbara, Sanabria, Angela, Fortea, J., Reynolds, C. A., Gelpi, E., Bernal Sánchez-Arjona, María, Boerwinkle, Eric, Mather, K. A., Jian, X., Saltvedt, Ingvild, Frank-García, Ana, Rosende-Roca, Maitee, Kinhult Stahlbom, Anne, Hanon, Olivier, Skoog, Ingmar, Kivipelto, Miia, Lehtisalo, Jenni, García-Alberca, José María, Dufouil, Carole, Bellenguez, Celine, Ingelsson, Martin, Nacmias, B., Spottke, Annika, Ullgren, Abbe, Hausner, Lucrezia, Arias Pastor, Alfonso, Tsolaki, Magda, Seripa, Davide, Naj, A. C., Clarimón, Jordi, Nordestgaard, Borge G., Valero, Sergi, van Schoor, N. M., Scarpini, E., Graff, Caroline, Boada, Mercè, Tagliavini, F., Scarmeas, N., García-Madrona, Sebastián, Yannakoulia, Mary, Banaj, Nerisa, Blennow, Kaj, Duzel, Emrah, Tárraga, Lluís, Lemstra, A. W., Morgan, K., Kok, A. A. L., Bessi, Valentina, Baquero, Miquel, Rodríguez-Rodríguez, Eloy, Cervera-Carles, Laura, Archetti, Silvana, Grande, Giulia, Dichgans, Martin, Arcaro, Marina, Blesa, Rafael, Real, Luis Miguel, Ikram, M. Arfan, Mangialasche, Francesca, and Quintela, Inés
Abstract: 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.
Published: 2021

20. La escala multidimensional de craving de alcohol y el SPECT con yodobenzamida[l123] como predictores de recaida precoz en pacientes que presentan dependencia del alcohol

Author: Guardia-Serecigni, Josep, Estorch, Montserrat, Surkov, Sergey, Camacho, Ma. del Valle, and García-Ribas, Guillermo
Published: 2011

21. Non-severe immunosuppression might be associated with a lower risk of moderate-severe acute respiratory distress syndrome in COVID-19.

Author: Monreal, Enric, primary, Maza, Susana Sainz de la, additional, Gullón, Pedro, additional, Natera-Villalba, Elena, additional, Chico-García, Juan Luis, additional, Beltrán-Corbellini, Álvaro, additional, Martínez-Sanz, Javier, additional, García-Barragán, Nuria, additional, Buisán, Javier, additional, Toledano, Rafael, additional, Alonso-Canovas, Araceli, additional, Pérez-Torre, Paula, additional, Matute-Lozano, María Consuelo, additional, López-Sendón, Jose Luis, additional, García-Ribas, Guillermo, additional, Corral, Íñigo, additional, Fortún, Jesús, additional, Montero-Errasquín, Beatriz, additional, Manzano, Luis, additional, Máiz-Carro, Luis, additional, Costa-Frossard, Lucienne, additional, and Masjuan, Jaime, additional
Published: 2020
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22. Immunosuppression is associated with a lower risk of moderate to severe acute respiratory distress syndrome in COVID-19.

Author: Monreal, Enric, primary, Maza, Susana Sainz de la, additional, Gullón, Pedro, additional, Natera-Villalba, Elena, additional, Chico-García, Juan Luis, additional, Beltrán-Corbellini, Álvaro, additional, Martínez-Sanz, Javier, additional, García-Barragán, Nuria, additional, Buisán, Javier, additional, Toledano, Rafael, additional, Alonso-Canovas, Araceli, additional, Pérez-Torre, Paula, additional, Matute-Lozano, María Consuelo, additional, López-Sendón, Jose Luis, additional, García-Ribas, Guillermo, additional, Corral, Íñigo, additional, Fortún, Jesús, additional, Montero-Errasquín, Beatriz, additional, Manzano, Luis, additional, Máiz-Carro, Luis, additional, Costa-Frossard, Lucienne, additional, and Masjuan, Jaime, additional
Published: 2020
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23. De novo PSEN1 mutation (Pro436Gln) in a very early onset posterior variant of Alzheimer's disease is associated with pyramidal signs.

Author: Agüero, Pablo, Hernández‐Alfonso, Jorge, Sainz, María José, García‐Ribas, Guillermo, Téllez, Raquel, Lorda‐Sánchez, Isabel, Paredes‐Rodríguez, Patricia, Ávila‐Fernández, Almudena, and Gomez‐Tortosa, Estrella
Abstract: Background: Alzheimer's disease (AD) is a common cause of dementia even in cases with very early onset, and implication of monogenic mutations in the PSEN1, PSEN2, and APP genes must be considered. Strong family history is the rule in autosomal dominant AD associated with mutations in these genes but, in rare cases, de novo mutations can occur. Method: Case report of a sporadic AD case with onset in his twenties carrying the Pro436Gln mutation (exon 12, TM‐9 region) in PSEN1. Comparison with a previously reported familial case carrying the same mutation. Result: A 32 years old male consulted for a 10 years‐long mild but slowly progressive learning difficulties, apathy and anxiety. There was no family history of neurologic diseases and both parents were cognitively preserved in their early 70s. The previous two years he had developed progressive visual disturbances including impaired reading, recognizing numbers, letters and faces and, more recently, he had experienced troubles with manual praxias. There were no specific complaints regarding episodic memory. Neuropsychological assessment showed severe visual agnosia and mild impairments in memory, speech, and executive functions. Neurologic examination showed brief distal myoclonus in upper limbs, markedly enhanced reflexes in lower limbs, as well as mild spasticiy. Blood tests, EEG, spinal MRI, and SSEP were normal. Brain MRI and FDG‐PET revealed severe parieto‐occipital atrophy/hypoperfusion (fig. 1‐4). AD CSF biomarkers showed decrease in Ab1‐42 and 1‐42/1‐40 ratio, increased pTau and normal total tau. Amyloid‐PET was positive, identifying a high burden of amyloid plaques in posterior cortex. The pathogenic PSEN1 mutation was found in the patient but was absent in his parents. It is remarkable that the phenotype of the previously reported case with this mutation was almost identical as regards onset in the late twenties and associated pyramidalism. Conclusion: PSEN1 mutations should be considered in patients with sporadic very early onset dementia, as de novo mutations may occur. AD CSF biomarkers offer valuable diagnostic information in such cases. The specific mutation has a very strong impact in the clinical phenotype. Further, this case is another example that PSEN1 mutations affecting proline residues have the earliest age at onset. [ABSTRACT FROM AUTHOR]
Published: 2021
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24. Non‐severe immunosuppression might be associated with a lower risk of moderate–severe acute respiratory distress syndrome in COVID‐19: A pilot study.

Author: Monreal, Enric, Maza S, Sainz de la, Gullón, Pedro, Natera‐Villalba, Elena, Chico‐García, Juan Luis, Beltrán‐Corbellini, Álvaro, Martínez‐Sanz, Javier, García‐Barragán, Nuria, Buisán, Javier, Toledano, Rafael, Alonso‐Canovas, Araceli, Pérez‐Torre, Paula, Matute‐Lozano, María C., López‐Sendón, Jose Luis, García‐Ribas, Guillermo, Corral, Íñigo, Fortún, Jesús, Montero‐Errasquín, Beatriz, Manzano, Luis, and Máiz‐Carro, Luis
Subjects: ADULT respiratory distress syndrome, COVID-19, IMMUNOSUPPRESSION, TSUTSUGAMUSHI disease
Abstract: The role of immunosuppression among coronavirus disease 2019 (COVID‐19) patients has not been elucidated and management may be challenging. This observational study included confirmed COVID‐19 patients. The primary endpoint was the development of moderate–severe acute respiratory distress syndrome (ARDS). Time to moderate–severe ARDS, the need for mechanical or noninvasive ventilation (MV/NIV), death, and a composite of death or MV/NIV were secondary endpoints. Of 138 patients included, 27 (19.6%) were immunosuppressed (IS) and 95 (68.8%) were male, with a median (IQR) age of 68 (54–78) years. A significantly lower proportion of IS patients (25.9%) compared to non‐IS patients (52.3%) developed moderate–severe ARDS, in both unadjusted (0.32; 95% CI, 0.13–0.83; p =.017) and adjusted (aOR, 0.25; 95% CI, 0.08–0.80; p =.019) analyses. After stratifying by pathologies, only IS patients with autoimmune diseases remained significant (aOR 0.25; 95% CI, 0.07–0.98; p =.046). Nonsignificant trends toward a longer time to moderate or severe ARDS, a lower need for MV/NIV, and a lower risk of death or MV/NIV were detected among IS. In our cohort of COVID‐19 patients, nonsevere immunosuppression was associated with a lower risk of moderate–severe ARDS, especially among AD. This suggests a potential protective effect from a hypothesized hyper‐inflammatory response. [ABSTRACT FROM AUTHOR]
Published: 2021
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25. Rare copy number variation in the GR@ACE/DEGESCO dementia dataset of spanish population.

Author: de Rojas, Itziar, García‐Ribas, Guillermo, Sanchez‐Juan, Pascual, Perez‐Tur, Jordi, Pastor, Pau, Bullido, María J., Álvarez‐Martínez, Victoria, Real, Luis Miguel, Mir, Pablo, Piñol‐Ripoll, Gerard, García‐Alberca, Jose María, Medina, Miguel, Sáez, María Eugenia, Carracedo, Angel, Tárraga, Lluís, Boada, Mercè, Van Der Lee, Sven J, and Ruiz, Agustin
Abstract: Background: Recent studies have found that duplications or deletions of DNA fragments, known as copy number variants (CNVs), may play a role in missing heritability for complex human diseases. Method: In that sense, we conducted a scan for CNVs in the GR@ACE/DEGESCO dementia dataset of Spanish population1 (n = 20,080 individuals using Axiom 815K Spanish biobank array (Thermo Fisher)). We ran CNV calling algorithms from PennCNV software to obtain high‐confidence calls for CNVs. After extensive quality control (QC) for individuals (sex discrepancies, excess of heterozygosity, high missingness, familiar relations and population outliers were excluded), CNVs (>50kb and nSNPs>10 were included), removing spurious CNVs in telomeric/centromeric regions, gene QC (ANOVA comparisons between DNA origin source evaluated in controls), 8,275 controls and 7,818 dementia cases were selected for following analysis. Result: Global burden analyses revealed highly significant differences between dementia cases and controls (dem/ctrl) in CNV rate of deletions (p = 2.69E‐04, meanctrl‐dem = 1.53‐1.38) but not in duplications (p = 0.535, meanctrl‐dem = 1.63‐1.61). However, only the number of genes affected by CNVs was significantly different in deletions (p = 0.042, meanctrl‐dem = 3.62‐3.10; duplications p = 0.448, meanctrl‐dem = 5.93‐5.68). We also observed a nominal deletion‐gene‐affected association by genes related to nervous system development pathway or intellectual disability such as VPS13B2 (nine cases affected), PKP3 (Freqctrl‐dem 0.17‐0.25%) and FBRSL13 (Freqctrl‐dem 0.15‐0.26%). The current study did not detect significant differences in CNVs that affect known Alzheimer's disease (AD) loci identified by recent genome‐wide association studies4 (deletions Fisher test p = 0.0875, duplications Fisher Test p = 0.5853). Nevertheless, we found three important AD genes with CNVs potentially associated to dementia. Specifically, we detected MAPT protective deletions (Freqctrl‐dem 0.16‐0.01%), ABCA7 risk deletions (Freqctrl‐dem 0.05‐0.14%) and APP CNVs detected in five dementia cases (0.064%). Because the technology used in our study has limitations in detecting small CNVs, future studies must carefully assess the presence of smaller CNVs and their relationship with dementia. Conclusion: We have detected potential CNVs in the Spanish population for Alzheimer's disease, however, because the technology used in our study has limitations in detecting small CNVs, future studies must carefully assess the presence of smaller CNVs and their relationship with dementia. [ABSTRACT FROM AUTHOR]
Published: 2023
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26. «Apuntes en Neurología»: una síntesis de la evidencia en trastornos neurológicos comunes paroxísticos y en trastornos neurodegenerativos

Author: Toledo Argany, Manuel, primary, Carnero Pardo, Cristóbal, additional, Carreño Martínez, Mª del Mar, additional, Escudero Torrella, Joaquín, additional, Gaig Ventura, Carles, additional, García Ribas, Guillermo, additional, Gil-Nagel Rein, Antonio, additional, Grandas Pérez, Francisco Javier, additional, Kulisevsky Bojarsky, Jaume, additional, Láinez Andrés, José Miguel, additional, Pareja Grande, Juan Antonio, additional, Porta Etessam, Jesús, additional, Poza Aldea, Juan José, additional, Rodríguez Oroz, María Cruz, additional, Serratosa Fernández, José María, additional, and Villanueva, Vicente, additional
Published: 2018
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27. Recommendations for the use of PET imaging biomarkers in the diagnosis of neurodegenerative conditions associated with dementia: consensus proposal from the SEMNIM and SEN

Author: Arbizu, Javier, García-Ribas, Guillermo, Carrió, Ignasi, Garrastachu, Puy, Martínez-Lage, Pablo, and Molinuevo, José Luis
Published: 2015
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28. CSF sAPPβ, YKL-40, and neurofilament light in frontotemporal lobar degeneration

Author: Alcolea, Daniel, primary, Vilaplana, Eduard, additional, Suárez-Calvet, Marc, additional, Illán-Gala, Ignacio, additional, Blesa, Rafael, additional, Clarimón, Jordi, additional, Lladó, Albert, additional, Sánchez-Valle, Raquel, additional, Molinuevo, José L., additional, García-Ribas, Guillermo, additional, Compta, Yaroslau, additional, Martí, María José, additional, Piñol-Ripoll, Gerard, additional, Amer-Ferrer, Guillermo, additional, Noguera, Aina, additional, García-Martín, Ana, additional, Fortea, Juan, additional, and Lleó, Alberto, additional
Published: 2017
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29. [P4-207]: A PRESCREENING STUDY IN SPAIN TO IDENTIFY INDIVIDUALS WHO MIGHT BE SUITABLE FOR PARTICIPATION IN CLINICAL STUDIES IN EARLY ALZHEIMER's DISEASE UTILIZING REFERRALS FROM GENERAL PRACTITIONER NETWORKS

Author: Sánchez-Valle, Raquel, primary, Del Olmo, Antonio, additional, Estanga, Ainara, additional, and García-Ribas, Guillermo, additional
Published: 2017
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30. Deterioro cognitivo como factor independiente de riesgo hospitalario: estudio DECOFIRH

Author: de Albóniga-Chindurza Barroeta, Asier, primary, Anciones Martín, Carla, additional, Acebrón Sánchez-Herrera, Fernando, additional, Ibáñez Segura, Dione, additional, Roiz Rey, Patricia, additional, Pérez Torre, Paula, additional, and García Ribas, Guillermo, additional
Published: 2017
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31. MEG functional network disorganization associates with cerebrospinal fluid biomarkers in early Alzheimer’s disease

Author: Canuet Delis, Leonides, Pusil Arce, Sandra, López García, María Eugenia, Bajo Breton, Ricardo, Pineda Pardo, José Ángel, Cuesta Prieto, Pablo, Gaztelu Quijano, José María, Lourido, Daniel, García Ribas, Guillermo, and Maestú Unturbe, Fernando
Subjects: Telecomunicaciones, Medicina
Abstract: To determine whether functional connectivity patterns, as an index of synaptic dysfunction, associate with cerebrospinal fluid (CSF) biomarkers (i.e., phospho-tau and amyloid beta -A 42- levels) in patients with Mild Cognitive Impairment due to Alzheimer?s disease. We also assessed orrelations of aberrant functional connections with structural connectivity abnormalities and with cognitive deficits
Published: 2015

32. A PRESCREENING STUDY IN SPAIN TO IDENTIFY INDIVIDUALS WHO MIGHT BE SUITABLE FOR PARTICIPATION IN CLINICAL STUDIES IN EARLY ALZHEIMER’S DISEASE UTILIZING REFERRALS FROM GENERAL PRACTITIONER NETWORKS

Author: Sánchez-Valle, Raquel, Del Olmo, Antonio, Estanga, Ainara, and García-Ribas, Guillermo
Published: 2017
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33. CONSULTA MÉDICA.

Author: GARCÍA RIBAS, GUILLERMO, ROMANILLOS, TERESA, CHINER, EUSEBI, and PAULINO, MARCOS
Published: 2023

34. Biomarcadores en la enfermedad de Alzheimer

Author: García Ribas, Guillermo, primary, López-Sendón Moreno, José Luis, additional, and García Caldentey, Juan, additional
Published: 2014
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35. Sensibilidad de biomarcadores en el líquido cefalorraquídeo en enfermedades neurodegenerativas

Author: García Ribas, Guillermo, primary, Rubio Gómez, Isabel, additional, López-Sendón Moreno, José Luis, additional, Casarejos Fernández, María J., additional, Bascuñana, Mónica, additional, and García de Yébenes, Justo, additional
Published: 2011
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36. Risk Factors for Dementia of Alzheimer Type and Aging-Associated Cognitive Decline in a Spanish Population Based Sample, and in Brains with Pathology Confirmed Alzheimer's Disease

Author: Ampuero, Israel, primary, Ros, Raquel, additional, Royuela, Ana, additional, Abraira, Victor, additional, del Ser, Teodoro, additional, García-Ribas, Guillermo, additional, and de Yébenes, Justo García, additional
Published: 2008
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37. Determinantes del uso de los fármacos con indicación para la profilaxis de la migraña en España

Author: Pascual Gómez, Julio, primary, Caminero Rodríguez, Ana Belén, additional, Cano Orgaz, Antonio T., additional, Heras Pérez, José Antonio, additional, Leira Muiño, Rogelio, additional, García Ribas, Guillermo, additional, and Grupo de investigadores participant, Grupo de investigadores participant, additional
Published: 2007
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38. Network Disruption and Cerebrospinal Fluid Amyloid-Beta and Phospho-Tau Levels in Mild Cognitive Impairment.

Author: Canuet, Leonides, Pusil, Sandra, López, María Eugenia, Bajo, Ricardo, Pineda-Pardo, José Ángel, Cuesta, Pablo, Gálvez, Gerardo, Gaztelu, José María, Lourido, Daniel, García-Ribas, Guillermo, and Maestú, Fernando
Subjects: LONG-term synaptic depression, ALZHEIMER'S disease risk factors, MAGNETOENCEPHALOGRAPHY, DIFFUSION tensor imaging, AMYLOID beta-protein
Abstract: Synaptic dysfunction is a core deficit in Alzheimer's disease, preceding hallmark pathological abnormalities. Resting-state magnetoencephalography (MEG) was used to assess whether functional connectivity patterns, as an index of synaptic dysfunction, are associated with CSF biomarkers [i.e., phospho-tau (p-tau) and amyloid beta (Aβ42) levels]. We studied 12 human subjects diagnosed with mild cognitive impairment due to Alzheimer's disease, comparing those with normal and abnormal CSF levels of the biomarkers. We also evaluated the association between aberrant functional connections and structural connectivity abnormalities, measured with diffusion tensor imaging, as well as the convergent impact of cognitive deficits and CSF variables on network disorganization. One-third of the patients converted to Alzheimer's disease during a follow-up period of 2.5 years. Patients with abnomal CSF p-tau and Aβ42 levels exhibited both reduced and increased functional connectivity affecting limbic structures such as the anterior/posterior cingulate cortex, orbitofrontal cortex, and medial temporal areas in different frequency bands. A reduction in posterior cingulate functional connectivity mediated by p-tau was associated with impaired axonal integrity of the hippocampal cingulum. We noted that several connectivity abnormalities were predicted by CSF biomarkers and cognitive scores. These preliminary results indicate that CSF markers of amyloid deposition and neuronal injury in early Alzheimer's disease associate with a dual pattern of cortical network disruption, affecting key regions of the default mode network and the temporal cortex. MEG is useful to detect early synaptic dysfunction associated with Alzheimer's disease brain pathology in terms of functional network organization. [ABSTRACT FROM AUTHOR]
Published: 2015
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39. CONSULTA MÉDICA.

Author: MARÍN, FRANCISCO, CASTRO, ÓSCAR, GARCÍA-RIBAS, GUILLERMO, and FIGUEROA, MARTA S.
Published: 2022

40. Multidimensional alcohol craving scale and [123I] Iodobenzamide SPECT as predictors of early relapse in alcohol-dependent patients.

Author: Guardia-Serecigni, Josep, Estorch, Montserrat, Surkov, Sergey, del Valle Camacho, Mª, and García-Ribas, Guillermo
Subjects: ALCOHOL drinking, ALCOHOL Dependence Scale, DETOXIFICATION (Substance abuse treatment), PHOTON emission, TOMOGRAPHY, NALTREXONE
Abstract: Background: The Multidimensional Alcohol Craving Scale (MACS) and Single Photon Emission Computerized Tomography (SPECT) with 123I-iodobenzamide (123I-IBZM) can be useful tools for assessing relapse risk in early recovery from alcohol-dependency. The aim of this study was to assess possible relationships between MACS score, 123I-IBZM binding and time to first heavy drinking day (TFHD) after detoxification treatment. Methods: Nineteen alcohol-dependent in-patients were evaluated by MACS scale and an 123I-IBZM-SPECT, performed following alcohol detoxification treatment. At discharge, participants were advised to take naltrexone 50 mg/day for relapse prevention. TFHD was assessed over a 12-week follow up. Results: The MACS score at the beginning of the detoxification process and naltrexone treatment after detoxification were independent predictive factors for TFHD. Conclusions: The MACS scale is a better predictor of TFHD than IBZM binding. It is simple, non-invasive and inexpensive and appears to be a useful instrument both for clinical practice and for research. [ABSTRACT FROM AUTHOR]
Published: 2011
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41. CONSULTA MÉDICA.

Author: GARCÍA-RIBAS, GUILLERMO, REINO, ÓSCAR CASTRO, and MARÍN, FRANCISCO
Published: 2022

42. New insights on the genetic etiology of Alzheimer’s and related dementia

Author: Bellenguez, Céline, Küçükali, Fahri, Jansen, Iris, Andrade, Victor, Moreno-Grau, Sonia, Amin, Najaf, Naj, Adam C., Grenier-Boley, Benjamin, Campos-Martin, Rafael, Holmans, Peter A., Boland, Anne, Kleineidam, Luca, Damotte, Vincent, van der Lee, Sven J., Kuulasmaa, Teemu, Yang, Qiong, de Rojas, Itziar, Bis, Joshua C., Yaqub, Amber, Prokic, Ivana, Costa, Marcos R, Chapuis, Julien, Ahmad, Shahzad, Giedraitis, Vilmantas, Boada, Mercè, Aarsland, Dag, García-González, Pablo, Abdelnour, Carla, Alarcón-Martín, Emilio, Alegret, Montserrat, Alvarez, Ignacio, Álvarez, Victoria, Armstrong, Nicola J., Tsolaki, Anthoula, Antúnez, Carmen, Appollonio, Ildebrando, Arcaro, Marina, Archetti, Silvana, Pastor, Alfonso Arias, Arosio, Beatrice, Athanasiu, Lavinia, Bailly, Henri, Banaj, Nerisa, Baquero, Miquel, Belén Pastor, Ana, Benussi, Luisa, Berr, Claudine, Besse, Céline, Bessi, Valentina, Binetti, Giuliano, Bizzarro, Alessandra, Alcolea, Daniel, Blesa, Rafael, Borroni, Barbara, Boschi, Silvia, Bossù, Paola, Bråthen, Geir, Bresner, Catherine, Brookes, Keeley J., Brusco, Luis Ignacio, Bûrger, Katharina, Bullido, María J., Burholt, Vanessa, Bush, William S., Calero, Miguel, Dufouil, Carole, Carracedo, Ángel, Cecchetti, Roberta, Cervera-Carles, Laura, Charbonnier, Camille, Chillotti, Caterina, Brodaty, Henry, Ciccone, Simona, Claassen, Jurgen A.H.R., Clark, Christopher, Conti, Elisa, Corma-Gómez, Anaïs, Costantini, Emanuele, Custodero, Carlo, Daian, Delphine, Dalmasso, Maria Carolina, Daniele, Antonio, Dardiotis, Efthimios, Dartigues, Jean-François, de Deyn, Peter Paul, de Paiva Lopes, Katia, de Witte, Lot D., Debette, Stéphanie, Deckert, Jürgen, del Ser, Teodoro, Denning, Nicola, DeStefano, Anita, Dichgans, Martin, Diehl-Schmid, Janine, Diez-Fairen, Mónica, Rossi, Paolo Dionigi, Djurovic, Srdjan, Duron, Emmanuelle, Düzel, Emrah, Engelborghs, Sebastiaan, Escott-Price, Valentina, Espinosa, Ana, Buiza-Rueda, Dolores, Ewers, Michael, Tagliavini, Fabrizio, Nielsen, Sune Fallgaard, Farotti, Lucia, Fenoglio, Chiara, Fernández-Fuertes, Marta, Hardy, John, Ferrari, Raffaele, Ferreira, Catarina B, Ferri, Evelyn, Fin, Bertrand, Fischer, Peter, Fladby, Tormod, Fließbach, Klaus, Fortea, Juan, Fostinelli, Silvia, Fox, Nick C., Franco-Macías, Emlio, Frank-García, Ana, Froelich, Lutz, Galimberti, Daniela, García-Alberca, Jose Maria, Garcia-Madrona, Sebastian, García-Ribas, Guillermo, Chene, Geneviève, Ghidoni, Roberta, Giegling, Ina, Giaccone, Giorgio, Goldhardt, Oliver, González-Pérez, Antonio, Graff, Caroline, Grande, Giulia, Green, Emma, Grimmer, Timo, Grünblatt, Edna, Guetta-Baranes, Tamar, Haapasalo, Annakaisa, Hadjigeorgiou, Georgios, Haines, Jonathan L., Hamilton-Nelson, Kara L., Hampel, Harald, Hanon, Olivier, Hartmann, Annette M., Hausner, Lucrezia, Harwood, Janet, Heilmann-Heimbach, Stefanie, Helisalmi, Seppo, Heneka, Michael T., Hernández, Isabel, Herrmann, Martin J., Hoffmann, Per, Holmes, Clive, Holstege, Henne, Vilas, Raquel Huerto, Hulsman, Marc, Humphrey, Jack, Biessels, Geert Jan, Johansson, Charlotte, Kehoe, Patrick G., Kilander, Lena, Ståhlbom, Anne Kinhult, Kivipelto, Miia, Koivisto, Anne, Kornhuber, Johannes, Kosmidis, Mary H., Kuksa, Pavel P., Kunkle, Brian W., Lage, Carmen, Laukka, Erika J, Lauria, Alessandra, Lee, Chien-Yueh, Lehtisalo, Jenni, Satizabal, Claudia L., Lerch, Ondrej, Lleó, Alberto, Lopez, Rogelio, Lopez, Oscar, de Munain, Adolfo Lopez, Love, Seth, Löwemark, Malin, Luckcuck, Lauren, Macías, Juan, MacLeod, Catherine A., Maier, Wolfgang, Mangialasche, Francesca, Spallazzi, Marco, Marquié, Marta, Marshall, Rachel, Martin, Eden R., Martín Montes, Angel, Rodríguez, Carmen Martínez, Masullo, Carlo, Mayeux, Richard, Mead, Simon, Mecocci, Patrizia, Medina, Miguel, Meggy, Alun, Mendoza, Silvia, Menéndez-González, Manuel, Mir, Pablo, Periñán, Maria Teresa, Mol, Merel, Molina-Porcel, Laura, Montrreal, Laura, Morelli, Laura, Moreno, Fermín, Morgan, Kevin, Nöthen, Markus M., Muchnik, Carolina, Nacmias, Benedetta, Ngandu, Tiia, Nicolas, Gael, Nordestgaard, Børge G., Olaso, Robert, Orellana, Adelina, Orsini, Michela, Ortega, Gemma, Padovani, Alessandro, Caffarra, Paolo, Papenberg, Goran, Parnetti, Lucilla, Pasquier, Florence, Pastor, Pau, Pérez-Cordón, Alba, Pérez-Tur, Jordi, Pericard, Pierre, Peters, Oliver, Pijnenburg, Yolande A.L., Pineda, Juan A, Piñol-Ripoll, Gerard, Pisanu, Claudia, Polak, Thomas, Popp, Julius, Posthuma, Danielle, Priller, Josef, Puerta, Raquel, Quenez, Olivier, Quintela, Inés, Thomassen, Jesper Qvist, Rábano, Alberto, Rainero, Innocenzo, Ramakers, Inez, Real, Luis M, Reinders, Marcel J.T., Riedel-Heller, Steffi, Riederer, Peter, Rodriguez-Rodriguez, Eloy, Rongve, Arvid, Allende, Irene Rosas, Rosende-Roca, Maitée, Royo, Jose Luis, Rubino, Elisa, Rujescu, Dan, Sáez, María Eugenia, Sakka, Paraskevi, Saltvedt, Ingvild, Sanabria, Ángela, Sánchez-Arjona, María Bernal, Sanchez-Garcia, Florentino, Mehrabian, Shima, Sánchez-Juan, Pascual, Sánchez-Valle, Raquel, Sando, Sigrid B, Scamosci, Michela, Scarmeas, Nikolaos, Scarpini, Elio, Scheltens, Philip, Scherbaum, Norbert, Scherer, Martin, Schmid, Matthias, Schneider, Anja, Schott, Jonathan M., Selbæk, Geir, Sha, Jin, Shadrin, Alexey A, Skrobot, Olivia, Snijders, Gijsje J. L., Soininen, Hilkka, Solfrizzi, Vincenzo, Solomon, Alina, Sorbi, Sandro, Sotolongo-Grau, Oscar, Spalletta, Gianfranco, Spottke, Annika, Squassina, Alessio, Tartari, Juan Pablo, Tárraga, Lluís, Tesí, Niccolo, Thalamuthu, Anbupalam, Tegos, Thomas, Traykov, Latchezar, Tremolizzo, Lucio, Tybjærg-Hansen, Anne, Uitterlinden, Andre, Ullgren, Abbe, Ulstein, Ingun, Valero, Sergi, Van Broeckhoven, Christine, van der Lugt, Aad, Van Dongen, Jasper, van Rooij, Jeroen, van Swieten, John, Vandenberghe, Rik, Verhey, Frans, Vidal, Jean-Sébastien, Vogelgsang, Jonathan, Vyhnalek, Martin, Wagner, Michael, Wallon, David, Wang, Li-San, Wang, Ruiqi, Weinhold, Leonie, Wiltfang, Jens, Windle, Gill, Woods, Bob, Yannakoulia, Mary, Zhao, Yi, Zulaica, Miren, Serrano-Rios, Manuel, Seripa, Davide, Stordal, Eystein, Farrer, Lindsay A., Psaty, Bruce M., Ghanbari, Mohsen, Raj, Towfique, Sachdev, Perminder, Mather, Karen, Jessen, Frank, Ikram, M. Arfan, de Mendonça, Alexandre, Hort, Jakub, Tsolaki, Magda, Pericak-Vance, Margaret A., Amouyel, Philippe, Williams, Julie, Frikke-Schmidt, Ruth, Clarimon, Jordi, Deleuze, Jean-François, Rossi, Giacomina, Seshadri, Sudha, Andreassen, Ole A., Ingelsson, Martin, Hiltunen, Mikko, Sleegers, Kristel, Schellenberg, Gerard D., van Duijn, Cornelia M., Sims, Rebecca, van der Flier, Wiesje M., Ruiz, Agustín, Ramirez, Alfredo, and Lambert, Jean-Charles
Subjects: 0303 health sciences, Microglia, Amyloid, business.industry, Disease, medicine.disease, Bioinformatics, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Genetic etiology, Medicine, Dementia, Egfr signaling, business, Gene, 030217 neurology & neurosurgery, 030304 developmental biology, Genetic association
Abstract: Alzheimer’s disease (AD) is a severe and incurable neurodegenerative disease, and the failure to find effective treatments suggests that the underlying pathology remains poorly understood. Due to its strong heritability, deciphering the genetic landscape of AD and related dementia (ADD) is a unique opportunity to advance our knowledge. We completed a meta-analysis of genome-wide association studies (39,106 clinically AD-diagnosed cases, 46,828 proxy-ADD cases and 401,577 controls) with the most promising signals followed-up in 25,392 independent AD cases and 276,086 controls. We report 75 risk loci for ADD, including 42 novel ones. Pathway-enrichment analyses confirm the involvement of amyloid/Tau pathways, highlight the role of microglia and its potential interaction with APP metabolism. Numerous genes exhibited differential expression or splicing in AD-related conditions and gene prioritization implies EGFR signaling and TNF-α pathway through LUBAC complex. We also generated a novel polygenic risk score strongly associated with the risk of future dementia or progression from mild cognitive impairment to dementia. In conclusion, by more than doubling the number of loci associated with ADD risk, our study offers new insights into the pathophysiological processes underlying AD and offers additional therapeutic entry-points and tools for translational genomics.
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43. Clinical manifestations of intermediate allele carriers in Huntington disease

Author: Cubo E., Ramos-Arroyo M. A., Martinez-Horta S., Martinez-Descalls A., Calvo S., Gil-Polo CAnne-Catherine Bachoud-Lévi, Anna Rita Bentivoglio, Ida Biunno, Raphael M Bonelli, Jean-Marc Burgunder, Stephen B Dunnett, Joaquim J Ferreira, Olivia J Handley, Arvid Heiberg, Torsten Illmann, G Bernhard Landwehrmeyer, Jamie Levey, Maria Ramos-Arroyo, Jørgen E Nielsen, Susana Pro Koivisto, Markku Päivärinta, Raymund A C Roos, Ana Rojo Sebastián, Sarah J Tabrizi, Wim Vandenberghe, Christine Verellen-Dumoulin, Tereza Uhrova, Jan Wahlström, Jacek Zaremba, Verena Baake, Katrin Barth, Adrien Come, Leonor Correia Guedes, Ana Maria Finisterra, Monica Bascuñana Garde, Reineke Bos, Sabrina Betz, Jenny Callaghan, Selene Capodarca, Sébastien Charpentier, Wildson Vieira da Silva, Martina Di Renzo, Daniel Ecker, Ruth Fullam, Camille Genoves, Mette Gilling, Carina Hvalstedt, Christine Held, Andrea Horta-Barba, Kerstin Koppers, Claudia Lamanna, Matilde Laurà, Asunción Martínez Descals, Saul Martinez-Horta, Tiago Mestre, Sara Minster, Daniela Monza, Lisanne Mütze, Martin Oehmen, Helene Padieu, Laurent Paterski, Nadia Peppa, Beate Rindal, Dawn Rogers, Niini Røren, Pavla Šašinková, Yuri Seliverstov, Catherine Taylor, Erika Timewell, Jenny Townhill, Patricia Trigo Cubillo, Marleen R van Walsem, Marie-Noelle Witjes-Ané, Grzegorz Witkowski, Abigail Wright, Elizaveta Yudina, Daniel Zielonka, Eugeniusz Zielonka, Paola Zinzi, Cécile Minet, Pascale Ribaï, Dominique Van Paemel, Lena Hjermind, Oda Jacobsen, Suzanne Lindquist, Jørgen Nielsen, Lisbeth Regeur, Jette Stockholm, Ida Unmack Larsen, Christina Vangsted-Hansen, Tua Vinther-Jensen, Pia Eklund, Heli Hiivola, Hannele Hypponen, Kirsti Martikainen, Katri Tuuha, Philippe Allain, Dominique Bonneau Marie Bost, Bénédicte Gohier, Marie-Anne Guérid, Audrey Olivier, Julie Prouzet, Adriana Prundean, Clarisse Scherer-Gagou, Christophe Verny, Blandine Babiloni, Sabrina Debruxelles, Charlotte Duché, Cyril Goizet, Laetitia Jameau, Danielle Lafoucrière, Umberto Spampinato, Anne-Catherine Bachoud-Lévi, Farideh Badei, Lotfi Boudali, Catherine Bourdet, Laurent Cléret, Maryline Couette, Cécile Focseneanu, Laurie Lemoine, Graça Morgado, Mehdi Sebaiti, Claire Thiriez, Laetitia Vervoitte, Katia Youssov, Jean-Philippe Azulay, Christelle Chabot, Marie Delfini, Alexandre Eusebio, Frédérique Fluchere, Christine Garreau, Aicha Ghenam, Hélène Grosjean, Laura Mundler, Marielle Nowak, Roland Raseta, Maïté Bertrand, Fabienne Calvas, Samia Cheriet, Laurent Marquine, Michèle Pierre, Jérémie Pariente, Sandrine Rolland, Alice Seris, Valérie Vaquie, Christoph Michael Kosinski, Eva Milkereit, Daniela Probst, Kathrin Reetz, Christian Sass, Johannes Schiefer, Christiane Schlangen, Cornelius J Werner, Gisa Ellrichmann, Lennard Herrmann, Rainer Hoffmann, Barbara Kaminski, Carsten Saft, Kai Boelmans, Christos Ganos, Ines Goerendt, Walburgis Heinicke, Ute Hidding, Jan Lewerenz, Alexander Münchau, Michael Orth, Jenny Schmalfeld, Lars Stubbe, Simone Zittel, Gabriele Diercks, Dirk Dressler, Flverly Francis, Sabine Gayde-Stephan, Heike Gorzolla, Bianca Kramer, Rebecca Minschke, Christoph Schrader, Pawel Tacik, Natalie Bechtel, Heike Beckmann, Stefan Bohlen, Nicole Göpfert, Eva Hölzner, Herwig Lange, Ralf Reilmann, Stefanie Rohm, Silke Rumpf, Sigrun Schepers, Nathalia Weber, Michael Bachmeier, Matthias Dose, Nina Hofstetter, Ralf Marquard, Alzbeta Mühlbäck, Andrea Buck, Julia Connemann, Carolin Geitner, Andrea Kesse, Bernhard Landwehrmeyer, Franziska Lezius, Solveig Nepper, Anke Niess, Ariane Schneider, Daniela Schwenk, Sigurd Süssmuth, Sonja Trautmann, Patrick Weydt, Stephan Klebe, Thomas Musacchio, Christine Leypold, Kerstin Nöth, Claudia Cormio, Marina de Tommaso, Anna Rita Dellomonaco, Olimpia Difruscolo, Giovanni Franco, Vittorio Sciruicchio, Claudia Serpino, Michela Figorilli, Francesco Marrosu, Antonella Muroni, Valeria Piras, Melisa Vacca, Caterina Bartoli, Elisabetta Bertini, Fernanda Fortunato, Elena Ghelli, Andrea Ginestroni, Claudia Mechi, Marco Paganini, Silvia Piacentini, Silvia Pradella, Anna Maria Romoli, Sandro Sorbi, Giuseppe De Michele, Luigi Di Maio, Carlo Rinaldi, Marco Massarelli, Silvio Peluso, Alessandro Roca, Cinzia Valeria Russo, Pierpaolo Sorrentino, Elena Salvatore, Tecla Tucci, Milena Cannella, Valentina Codella, Francesca De Gregorio, Annunziata De Nicola, Francesca Elifani, Tiziana Martino, Francesca Lovo, Irene Mazzante, Martina Petrollini, Maria Simonelli, Ferdinando Squitieri, Maurizio Vezza, Barbara D'Alessio, Chiara Esposito, Giulia Coarelli, Michela Ferraldeschi, Marina Frontali, Gioia Jacopini, Giovanni Ristori, Silvia Romano, Monique S E van Hout, Jeroen P P van Vugt, A Marit de Weert, Marloes Verhoeven, Simon J A van den Bogaard, Eve M Dumas, Ellen P 't Hart, Milou Jacobs, Anne Kampstra, Anne Schoonderbeek, Nils Olav Aanonsen, Olaf Aaserud, Liv Barnett, Kathrine Bjørgo, Nancy Borgerød, Elisabeth Dramstad, Madeleine Fannemel, Jan Frich, Helen Gundersen, Per Gørvell, Kathrine Haggag, Cecilie Haggag Johannessen, Lars Retterstøl, Oddveig Rosby, Jutta Rummel, Alma Sikiric, Olga Solberg, Marleen van Walsem, Ragnhild Wehus, Artur Dziadkiewicz, Agnieszka Konkel, Ewa Narożańska, Malgorzata Nowak, Piotr Robowski, Emilia Sitek, Jaroslaw Slawek, Witold Soltan, Michal Szinwelski, Michał Arkuszewski, Magdalena Błaszczyk, Magdalena Boczarska-Jedynak, Ewelina Ciach-Wysocka, Agnieszka Gorzkowska, Barbara Jasińska-Myga, Aleksandra Kaczmarczyk, Gabriela Kłodowska-Duda, Grzegorz Opala, Monika Rudzińska, Daniel Stompel, Krzysztof Banaszkiewicz, Dorota Boćwińska, Kamila Bojakowska-Jaremek, Małgorzata Dec, Natalia Grabska, Malgorzata Krawczyk, Ewelina Kubowicz, Michalina Malec-Litwinowicz, Agata Stenwak, Andrzej Szczudlik, Elżbieta Szczygieł, Magdalena Wójcik, Anna Wasielewska, Jacek Anioła Anna Bryl, Anna Ciesielska, Aneta Klimberg, Jerzy Marcinkowski, Husam Samara, Justyna Sempołowicz, Bartłomiej Wiśniewski, Anna Gogol, Piotr Janik, Zygmunt Jamrozik, Anna Kaminska, Hubert Kwiecinski, Jakub Antczak, Katarzyna Jachinska, Wioletta Krysa, Maryla Rakowicz, Przemyslaw Richter, Rafal Rola, Danuta Ryglewicz, Halina Sienkiewicz-Jarosz, Iwona Stępniak, Anna Sułek, Elzbieta Zdzienicka, Karolina Ziora-Jakutowicz, Cristina Januário, Filipa Júlio, Ana Salgueiro, Miguel Coelho, Tiago Mendes, Mário Miguel Rosa, Anabela Valadas, Cristina Semedo, Ana Calado, Joana Morgado, Margarida Dias, Manuel Almeida, Carmen Durán Herrera, Patrocinio Garcia Moreno, Jordi Bas, Núria Busquets, Matilde Calopa, Serge Jaumà Classen, Nadia Rodríguez Dedichá, Miquel Aguilar Barbera, Sonia Arribas Pardo, Dolors Badenes Guia, Noemi Calzado, Laura Casas Hernanz, Juan Pablo Tartari Díaz-Zorita, Judit López Catena, Pilar Quiléz Ferrer, Gemma Tome Carruesco, Misericordia Floriach Robert, Cèlia Mareca Viladrich, Elvira Roca, Jesús Miguel Ruiz Idiago, Antonio Villa Riballo, Antonia Campolongo, Ramon Fernandez de Bobadilla, Jaime Kulisevsky Bojarsky, Javier Pagonabarraga, Jesus Perez Perez, Carolina Villa, Maria Angeles Acera Gil, Koldo Berganzo Corrales, Juan Carlos Gomez Esteban, Amaia González, Beatriz Tijero Merino, Esther Cubo, Natividad Mariscal, Sandra Gutierrez Romero, José Matías Arbelo, Rocío Malo de Molina, Idaira Martín, Juan Manuel Periañez, Beatriz Udaeta, Fernando Alonso-Frech, Belén Frades, Marina Ávila Villanueva, Maria Ascension Zea Sevilla, Fernando Alonso Frech, María Del Mar Fenollar, Rocío García-Ramos García, Clara Villanueva, Mónica Bascuñana, Marta Fatás Ventura, Juan García Caldentey, Guillermo García Ribas, Justo García de Yébenes, José Luis López-Sendón Moreno, Verónica Mañanes Barral, Cici Feliz Feliz, Pedro José García Ruíz, Ana García, Rosa Guerrero López, Antonio Herranz Bárcenas, Asunción Martínez-Descals, Angel Martínez Pueyo, Veronica Puertas Martin, Noelia Rodríguez Martínez, María José Sainz Artiga, Vicenta Sánchez, Javier Del Val Fernandez, Carmen Antúnez Almagro, Salvadora Manzanares, Juan Marín Muñoz, María Martirio Antequera Torres, Fuensanta Noguera Perea, Laura Vivancos Moreau, Sonia González, Luis Menéndez Guisasola, Carlos Salvador, René Ribacoba, Pablo Sánchez Lozano, Marta Para Prieto, Aránzazu Gorospe, Inés Legarda Ramirez, Penelope Navas Arques, Monica Rodriguez Lopera, Barbara Vives Pastor, Itziar Gaston, Maria Antonia Ramos-Arroyo, Maria Dolores Martinez-Jaurrieta, José Manuel García Moreno, Carolina Mendez Lucena, José Chacón Peña, Fátima Damas Hermoso, Eva Pacheco Cortegana, Luis Redondo, Cristina Melgar Fernandez, Maite Paredes Mata, Maria Dolores Romero Lemos, Maria Bosca, Juan Andres Burguera, Francisco Castera Brugada Carmen Peiró Vilaplana, Elena Bellosta Diago, Javier López Del Val, Laura Martinez Martinez, Elena López, Peter Berglund, Radu Constantinescu, Gunnel Fredlund, Ulrika Høsterey-Ugander, Liselotte Neleborn-Lingefjärd, Yanik Stebler, Alain Kaelin, Irene Romero, Michael Schüpbach, Sabine Weber Zaugg, Lorna Downie, Roisin Jack, Kirsty Matheson, Zosia Miedzybrodzka, Daniela Rae, Sheila A Simpson, Fiona Summers, Alexandra Ure, Vivien Vaughn, Shahbana Akhtar, Jenny Crooks, Adrienne Curtis, Jenny de Souza, John Piedad, Hugh Rickards, Jan Wright, Elizabeth Coulthard, Louise Gethin, Beverley Hayward, Kasia Sieradzan, Monica Busse, Cynthia Butcher, Stephen Dunnett, Catherine Clenaghan, Sarah Hunt, Lesley Jones, Una Jones, Hanan Khalil, Michael Owen, Kathleen Price, Anne Rosser, Peter Brockie, Jillian Foster, Nicola Johns, Sue McKenzie, Jean Rothery, Gareth Thomas, Shona Yates, Alyson Andrew, Julie Frost, Rupert Noad, Jeremy Cosgrove, Deena Gallantree, Stephanie Hamer, Emma Hobson, Stuart Jamieson, Alison Kraus, Mandy Longthorpe, Ivana Markova, Hannah Musgrave, Caroline Peacy, Ashok Raman, Liz Rowett, Jean Toscano, Sue Wild, Carole Clayton, Pam Yardumian, Heather Dipple, Dawn Freire- Patino, Caroline Hallam, Julia Middleton, Uruj Anjum, Jan Coebergh, Charlotte Eddy, Nayana Lahiri, Meriel McEntagart, Michael Patton, Maria Peterson, Sarah Rose, Thomasin Andrews, Stefanie Brown, Stefania Bruno, Elvina Chu, Karen Doherty, Charlotte Golding, Salman Haider, Davina Hensman, Monica Lewis, Marianne Novak, Aakta Patel, Joy Read, Nicola Robertson, Elisabeth Rosser, Sarah Tabrizi, Rachel Taylor, Thomas Warner, Edward Wild, Natalie Arran, Judith Bek, David Craufurd, Marianne Hare, Liz Howard, Susan Huson, Liz Johnson, Mary Jones, Ashok Krishnamoorthy, Helen Murphy, Emma Oughton, Lucy Partington-Jones, Andrea Sollom, Julie Snowden, Cheryl Stopford, Jennifer Thompson, Iris Trender-Gerhard, Nichola Verstraelen, Leann Westmoreland, Ginette Cass, Lynn Davidson, Jill Davison, Neil Fullerton, Katrina Holmes, Suresh Komati, Sharon McDonnell, Zeid Mohammed, Karen Morgan, Lois Savage, Baldev Singh, Josh Wood, Andrea H Nemeth, Gill Siuda, Ruth Valentine, Kathryn Dixon, Richard Armstrong, David Harrison, Max Hughes, Sandra Large, John O Donovan, Amy Palmer, Andrew Parkinson, Beverley Soltysiak, Leanne Timings, Josh Williams, Oliver Bandmann, Alyson Bradbury, Helen Fairtlough, Kay Fillingham, Isabella Foustanos, Paul Gill, Mbombe Kazoka, Kirsty O'Donovan, Louise Nevitt, Oliver Quarrell, Cat Taylor, Katherine Tidswell, Lesley Gowers, Kingsley Powell, Pamela Bethwaite, Rachel Edwards, Kathleen Fuller, Michelle Phillips, Univ Angers, Okina, E., Cubo, M. A., Ramos-Arroyo, S., Martinez-Horta, A., Martinez-Descall, S., Calvo, CAnne-Catherine Bachoud-Lévi, Gil-Polo, Rita Bentivoglio, Anna, Biunno, Ida, M Bonelli, Raphael, Burgunder, Jean-Marc, B Dunnett, Stephen, J Ferreira, Joaquim, J Handley, Olivia, Heiberg, Arvid, Illmann, Torsten, Bernhard Landwehrmeyer, G, Levey, Jamie, Ramos-Arroyo, Maria, E Nielsen, Jørgen, Pro Koivisto, Susana, Päivärinta, Markku, C Roos, Raymund A, Rojo Sebastián, Ana, J Tabrizi, Sarah, Vandenberghe, Wim, Verellen-Dumoulin, Christine, Uhrova, Tereza, Wahlström, Jan, Zaremba, Jacek, Baake, Verena, Barth, Katrin, Come, Adrien, Correia Guedes, Leonor, Maria Finisterra, Ana, Bascuñana Garde, Monica, Bos, Reineke, Betz, Sabrina, Callaghan, Jenny, Capodarca, Selene, Charpentier, Sébastien, Vieira da Silva, Wildson, Di Renzo, Martina, Ecker, Daniel, Fullam, Ruth, Genoves, Camille, Gilling, Mette, Hvalstedt, Carina, Held, Christine, Horta-Barba, Andrea, Koppers, Kerstin, Lamanna, Claudia, Laurà, Matilde, Martínez Descals, Asunción, Martinez-Horta, Saul, Mestre, Tiago, Minster, Sara, Monza, Daniela, Mütze, Lisanne, Oehmen, Martin, Padieu, Helene, Paterski, Laurent, Peppa, Nadia, Rindal, Beate, Rogers, Dawn, Røren, Niini, Šašinková, Pavla, Seliverstov, Yuri, Taylor, Catherine, Timewell, Erika, Townhill, Jenny, Trigo Cubillo, Patricia, R van Walsem, Marleen, Witjes-Ané, Marie-Noelle, Witkowski, Grzegorz, Wright, Abigail, Yudina, Elizaveta, Zielonka, Daniel, Zielonka, Eugeniusz, Zinzi, Paola, Minet, Cécile, Ribaï, Pascale, Van Paemel, Dominique, Hjermind, Lena, Jacobsen, Oda, Lindquist, Suzanne, Nielsen, Jørgen, Regeur, Lisbeth, Stockholm, Jette, Unmack Larsen, Ida, Vangsted-Hansen, Christina, Vinther-Jensen, Tua, Eklund, Pia, Hiivola, Heli, Hypponen, Hannele, Martikainen, Kirsti, Tuuha, Katri, Allain, Philippe, Bonneau Marie Bost, Dominique, Gohier, Bénédicte, Guérid, Marie-Anne, Olivier, Audrey, Prouzet, Julie, Prundean, Adriana, Scherer-Gagou, Clarisse, Verny, Christophe, Babiloni, Blandine, Debruxelles, Sabrina, Duché, Charlotte, Goizet, Cyril, Jameau, Laetitia, Lafoucrière, Danielle, Spampinato, Umberto, Bachoud-Lévi, Anne-Catherine, Badei, Farideh, Boudali, Lotfi, Bourdet, Catherine, Cléret, Laurent, Couette, Maryline, Focseneanu, Cécile, Lemoine, Laurie, Morgado, Graça, Sebaiti, Mehdi, Thiriez, Claire, Vervoitte, Laetitia, Youssov, Katia, Azulay, Jean-Philippe, Chabot, Christelle, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frédérique, Garreau, Christine, Ghenam, Aicha, Grosjean, Hélène, Mundler, Laura, Nowak, Marielle, Raseta, Roland, Bertrand, Maïté, Calvas, Fabienne, Cheriet, Samia, Marquine, Laurent, Pierre, Michèle, Pariente, Jérémie, Rolland, Sandrine, Seris, Alice, Vaquie, Valérie, Michael Kosinski, Christoph, Milkereit, Eva, Probst, Daniela, Reetz, Kathrin, Sass, Christian, Schiefer, Johanne, Schlangen, Christiane, J Werner, Corneliu, Ellrichmann, Gisa, Herrmann, Lennard, Hoffmann, Rainer, Kaminski, Barbara, Saft, Carsten, Boelmans, Kai, Ganos, Christo, Goerendt, Ine, Heinicke, Walburgi, Hidding, Ute, Lewerenz, Jan, Münchau, Alexander, Orth, Michael, Schmalfeld, Jenny, Stubbe, Lar, Zittel, Simone, Diercks, Gabriele, Dressler, Dirk, Francis, Flverly, Gayde-Stephan, Sabine, Gorzolla, Heike, Kramer, Bianca, Minschke, Rebecca, Schrader, Christoph, Tacik, Pawel, Bechtel, Natalie, Beckmann, Heike, Bohlen, Stefan, Göpfert, Nicole, Hölzner, Eva, Lange, Herwig, Reilmann, Ralf, Rohm, Stefanie, Rumpf, Silke, Schepers, Sigrun, Weber, Nathalia, Bachmeier, Michael, Dose, Matthia, Hofstetter, Nina, Marquard, Ralf, Mühlbäck, Alzbeta, Buck, Andrea, Connemann, Julia, Geitner, Carolin, Kesse, Andrea, Landwehrmeyer, Bernhard, Lezius, Franziska, Nepper, Solveig, Niess, Anke, Schneider, Ariane, Schwenk, Daniela, Süssmuth, Sigurd, Trautmann, Sonja, Weydt, Patrick, Klebe, Stephan, Musacchio, Thoma, Leypold, Christine, Nöth, Kerstin, Cormio, Claudia, de Tommaso, Marina, Rita Dellomonaco, Anna, Difruscolo, Olimpia, Franco, Giovanni, Sciruicchio, Vittorio, Serpino, Claudia, Figorilli, Michela, Marrosu, Francesco, Muroni, Antonella, Piras, Valeria, Vacca, Melisa, Bartoli, Caterina, Bertini, Elisabetta, Fortunato, Fernanda, Ghelli, Elena, Ginestroni, Andrea, Mechi, Claudia, Paganini, Marco, Piacentini, Silvia, Pradella, Silvia, Maria Romoli, Anna, Sorbi, Sandro, DE MICHELE, Giuseppe, Di Maio, Luigi, Rinaldi, Carlo, Massarelli, Marco, Peluso, Silvio, Roca, Alessandro, Russo, CINZIA VALERIA, Sorrentino, Pierpaolo, Salvatore, Elena, Tucci, Tecla, Cannella, Milena, Codella, Valentina, De Gregorio, Francesca, De Nicola, Annunziata, Elifani, Francesca, Martino, Tiziana, Lovo, Francesca, Mazzante, Irene, Petrollini, Martina, Simonelli, Maria, Squitieri, Ferdinando, Vezza, Maurizio, D'Alessio, Barbara, Esposito, Chiara, Coarelli, Giulia, Ferraldeschi, Michela, Frontali, Marina, Jacopini, Gioia, Ristori, Giovanni, Romano, Silvia, E van Hout, Monique S, P van Vugt, Jeroen P, Marit de Weert, A, Verhoeven, Marloe, A van den Bogaard, Simon J, M Dumas, Eve, P 't Hart, Ellen, Jacobs, Milou, Kampstra, Anne, Schoonderbeek, Anne, Olav Aanonsen, Nil, Aaserud, Olaf, Barnett, Liv, Bjørgo, Kathrine, Borgerød, Nancy, Dramstad, Elisabeth, Fannemel, Madeleine, Frich, Jan, Gundersen, Helen, Gørvell, Per, Haggag, Kathrine, Haggag Johannessen, Cecilie, Retterstøl, Lar, Rosby, Oddveig, Rummel, Jutta, Sikiric, Alma, Solberg, Olga, van Walsem, Marleen, Wehus, Ragnhild, Dziadkiewicz, Artur, Konkel, Agnieszka, Narożańska, Ewa, Nowak, Malgorzata, Robowski, Piotr, Sitek, Emilia, Slawek, Jaroslaw, Soltan, Witold, Szinwelski, Michal, Arkuszewski, Michał, Błaszczyk, Magdalena, Boczarska-Jedynak, Magdalena, Ciach-Wysocka, Ewelina, Gorzkowska, Agnieszka, Jasińska-Myga, Barbara, Kaczmarczyk, Aleksandra, Kłodowska-Duda, Gabriela, Opala, Grzegorz, Rudzińska, Monika, Stompel, Daniel, Banaszkiewicz, Krzysztof, Boćwińska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Małgorzata, Grabska, Natalia, Krawczyk, Malgorzata, Kubowicz, Ewelina, Malec-Litwinowicz, Michalina, Stenwak, Agata, Szczudlik, Andrzej, Szczygieł, Elżbieta, Wójcik, Magdalena, Wasielewska, Anna, Anioła Anna Bryl, Jacek, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempołowicz, Justyna, Wiśniewski, Bartłomiej, Gogol, Anna, Janik, Piotr, Jamrozik, Zygmunt, Kaminska, Anna, Kwiecinski, Hubert, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Richter, Przemyslaw, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stępniak, Iwona, Sułek, Anna, Zdzienicka, Elzbieta, Ziora-Jakutowicz, Karolina, Januário, Cristina, Júlio, Filipa, Salgueiro, Ana, Coelho, Miguel, Mendes, Tiago, Miguel Rosa, Mário, Valadas, Anabela, Semedo, Cristina, Calado, Ana, Morgado, Joana, Dias, Margarida, Almeida, Manuel, Durán Herrera, Carmen, Garcia Moreno, Patrocinio, Bas, Jordi, Busquets, Núria, Calopa, Matilde, Jaumà Classen, Serge, Rodríguez Dedichá, Nadia, Aguilar Barbera, Miquel, Arribas Pardo, Sonia, Badenes Guia, Dolor, Calzado, Noemi, Casas Hernanz, Laura, Pablo Tartari Díaz-Zorita, Juan, López Catena, Judit, Quiléz Ferrer, Pilar, Tome Carruesco, Gemma, Floriach Robert, Misericordia, Mareca Viladrich, Cèlia, Roca, Elvira, Miguel Ruiz Idiago, Jesú, Villa Riballo, Antonio, Campolongo, Antonia, Fernandez de Bobadilla, Ramon, Kulisevsky Bojarsky, Jaime, Pagonabarraga, Javier, Perez Perez, Jesu, Villa, Carolina, Angeles Acera Gil, Maria, Berganzo Corrales, Koldo, Carlos Gomez Esteban, Juan, González, Amaia, Tijero Merino, Beatriz, Cubo, Esther, Mariscal, Natividad, Gutierrez Romero, Sandra, Matías Arbelo, José, Malo de Molina, Rocío, Martín, Idaira, Manuel Periañez, Juan, Udaeta, Beatriz, Alonso-Frech, Fernando, Frades, Belén, Ávila Villanueva, Marina, Ascension Zea Sevilla, Maria, Alonso Frech, Fernando, Del Mar Fenollar, María, García-Ramos García, Rocío, Villanueva, Clara, Bascuñana, Mónica, Fatás Ventura, Marta, García Caldentey, Juan, García Ribas, Guillermo, García de Yébenes, Justo, Luis López-Sendón Moreno, José, Mañanes Barral, Verónica, Feliz Feliz, Cici, José García Ruíz, Pedro, García, Ana, Guerrero López, Rosa, Herranz Bárcenas, Antonio, Martínez-Descals, Asunción, Martínez Pueyo, Angel, Puertas Martin, Veronica, Rodríguez Martínez, Noelia, José Sainz Artiga, María, Sánchez, Vicenta, Del Val Fernandez, Javier, Antúnez Almagro, Carmen, Manzanares, Salvadora, Marín Muñoz, Juan, Martirio Antequera Torres, María, Noguera Perea, Fuensanta, Vivancos Moreau, Laura, González, Sonia, Menéndez Guisasola, Lui, Salvador, Carlo, Ribacoba, René, Sánchez Lozano, Pablo, Para Prieto, Marta, Gorospe, Aránzazu, Legarda Ramirez, Iné, Navas Arques, Penelope, Rodriguez Lopera, Monica, Vives Pastor, Barbara, Gaston, Itziar, Antonia Ramos-Arroyo, Maria, Dolores Martinez-Jaurrieta, Maria, Manuel García Moreno, José, Mendez Lucena, Carolina, Chacón Peña, José, Damas Hermoso, Fátima, Pacheco Cortegana, Eva, Redondo, Lui, Melgar Fernandez, Cristina, Paredes Mata, Maite, Dolores Romero Lemos, Maria, Bosca, Maria, Andres Burguera, Juan, Castera Brugada Carmen Peiró Vilaplana, Francisco, Bellosta Diago, Elena, López Del Val, Javier, Martinez Martinez, Laura, López, Elena, Berglund, Peter, Constantinescu, Radu, Fredlund, Gunnel, Høsterey-Ugander, Ulrika, Neleborn-Lingefjärd, Liselotte, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schüpbach, Michael, Weber Zaugg, Sabine, Downie, Lorna, Jack, Roisin, Matheson, Kirsty, Miedzybrodzka, Zosia, Rae, Daniela, A Simpson, Sheila, Summers, Fiona, Ure, Alexandra, Vaughn, Vivien, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, de Souza, Jenny, Piedad, John, Rickards, Hugh, Wright, Jan, Coulthard, Elizabeth, Gethin, Louise, Hayward, Beverley, Sieradzan, Kasia, Busse, Monica, Butcher, Cynthia, Dunnett, Stephen, Clenaghan, Catherine, Hunt, Sarah, Jones, Lesley, Jones, Una, Khalil, Hanan, Owen, Michael, Price, Kathleen, Rosser, Anne, Brockie, Peter, Foster, Jillian, Johns, Nicola, Mckenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Andrew, Alyson, Frost, Julie, Noad, Rupert, Cosgrove, Jeremy, Gallantree, Deena, Hamer, Stephanie, Hobson, Emma, Jamieson, Stuart, Kraus, Alison, Longthorpe, Mandy, Markova, Ivana, Musgrave, Hannah, Peacy, Caroline, Raman, Ashok, Rowett, Liz, Toscano, Jean, Wild, Sue, Clayton, Carole, Yardumian, Pam, Dipple, Heather, Freire- Patino, Dawn, Hallam, Caroline, Middleton, Julia, Anjum, Uruj, Coebergh, Jan, Eddy, Charlotte, Lahiri, Nayana, Mcentagart, Meriel, Patton, Michael, Peterson, Maria, Rose, Sarah, Andrews, Thomasin, Brown, Stefanie, Bruno, Stefania, Chu, Elvina, Doherty, Karen, Golding, Charlotte, Haider, Salman, Hensman, Davina, Lewis, Monica, Novak, Marianne, Patel, Aakta, Read, Joy, Robertson, Nicola, Rosser, Elisabeth, Tabrizi, Sarah, Taylor, Rachel, Warner, Thoma, Wild, Edward, Arran, Natalie, Bek, Judith, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Krishnamoorthy, Ashok, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iri, Verstraelen, Nichola, Westmoreland, Leann, Cass, Ginette, Davidson, Lynn, Davison, Jill, Fullerton, Neil, Holmes, Katrina, Komati, Suresh, Mcdonnell, Sharon, Mohammed, Zeid, Morgan, Karen, Savage, Loi, Singh, Baldev, Wood, Josh, H Nemeth, Andrea, Siuda, Gill, Valentine, Ruth, Dixon, Kathryn, Armstrong, Richard, Harrison, David, Hughes, Max, Large, Sandra, O Donovan, John, Palmer, Amy, Parkinson, Andrew, Soltysiak, Beverley, Timings, Leanne, Williams, Josh, Bandmann, Oliver, Bradbury, Alyson, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Gill, Paul, Kazoka, Mbombe, O'Donovan, Kirsty, Nevitt, Louise, Quarrell, Oliver, Taylor, Cat, Tidswell, Katherine, Gowers, Lesley, Powell, Kingsley, Bethwaite, Pamela, Edwards, Rachel, Fuller, Kathleen, Phillips, Michelle, Cubo, E., Ramos-Arroyo, M. A., Martinez-Horta, S., Martinez-Descalls, A., Russo, C. V., Calvo, S., Gil-Polo, C., Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Angers (UA), Ramos-Arroyo, María A., Martínez-Descalls, Asunción, Calvo, Sara, and Gil-Polo, Cecilia
Subjects: 0301 basic medicine, Registrie, Adult, Male, medicine.medical_specialty, Aging, Heterozygote, Genetic counseling, Motor Disorders, Disease, Severity of Illness Index, 03 medical and health sciences, Cognition Disorder, 0302 clinical medicine, Trinucleotide Repeats, Internal medicine, medicine, Humans, Registries, Allele, Motor Disorder, Alleles, Huntingtin Protein, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, business.industry, Medicine (all), Trinucleotide Repeat, Cognition, Genetic Status, Middle Aged, Phenotype, Europe, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Huntington Disease, Case-Control Studies, Cohort, medicine (all), neurology (clinical), controlled clinical trial (topic), Quality of Life, Female, Neurology (clinical), business, Case-Control Studie, Cognition Disorders, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Human
Abstract: International audience; OBJECTIVE: There is controversy about the clinical consequences of intermediate alleles (IAs) in Huntington disease (HD). The main objective of this study was to establish the clinical manifestations of IA carriers for a prospective, international, European HD registry.METHODS: We assessed a cohort of participants at risk with RESULTS: Of 12,190 participants, 657 (5.38%) with CONCLUSIONS: Although aging worsened the UHDRS scores independently of the genetic status, IAs might confer a late-onset abnormal motor and cognitive phenotype. These results might have important implications for genetic counseling.CLINICALTRIALSGOV IDENTIFIER: NCT01590589.
Published: 2016

44. 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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45. 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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46. Recommendations for the use of PET imaging biomarkers in the diagnosis of neurodegenerative conditions associated with dementia: SEMNIM and SEN consensus.

Author: Arbizu J, García-Ribas G, Carrió I, Garrastachu P, Martínez-Lage P, and Molinuevo JL
Subjects: Alzheimer Disease diagnostic imaging, Amyloid beta-Peptides analysis, Aniline Compounds, Biomarkers, Brain Chemistry, Carbon Radioisotopes, Early Diagnosis, Fluorine Radioisotopes, Fluorodeoxyglucose F18, Humans, Radiopharmaceuticals, Thiazoles, Dementia diagnostic imaging, Neurodegenerative Diseases diagnostic imaging, Neuroimaging methods, Positron-Emission Tomography methods
Abstract: The new diagnostic criteria for Alzheimer's disease (AD) acknowledges the interest given to biomarkers to improve the specificity in subjects with dementia and to facilitate an early diagnosis of the pathophysiological process of AD in the prodromal or pre-dementia stage. The current availability of PET imaging biomarkers of synaptic dysfunction (PET-FDG) and beta amyloid deposition using amyloid-PET provides clinicians with the opportunity to apply the new criteria and improve diagnostic accuracy in their clinical practice. Therefore, it seems essential for the scientific societies involved to use the new clinical diagnostic support tools to establish clear, evidence-based and agreed set of recommendations for their appropriate use. The present work includes a systematic review of the literature on the utility of FDG-PET and amyloid-PET for the diagnosis of AD and related neurodegenerative diseases that occur with dementia. Thus, we propose a series of recommendations agreed on by the Spanish Society of Nuclear Medicine and Spanish Society of Neurology as a consensus statement on the appropriate use of PET imaging biomarkers., (Copyright © 2015 Elsevier España, S.L.U. and SEMNIM. All rights reserved.)
Published: 2015
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