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Articles by Mercè Boada
From feasibility to neuroanatomic validity of remote cognitive smartphone assessments in early Alzheimer’s disease
Abstract Digital health technologies (DHT) offer a promising solution to the timely identification of early Alzheimer’s disease (eAD) to enable early treatment. This study evaluated the feasibility, acceptability, adherence, reliability, and preliminary clinical and content validity of the novel AD Digital Assessment Suite (AD-DAS).
AMYPAD-PNHS: A Pan-European, Multi-Site & Multimodal MRI Dataset of Older Adults Without Dementia
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Abstract The Amyloid Imaging to Prevent Alzheimer’s Disease Prognostic and Natural History Study (AMYPAD-PNHS) multimodal magnetic resonance imaging (MRI) dataset provides open-access longitudinal MRI data of 2759 cognitively normal or mild cognitive impairment individuals, encompassing (micro-)structural, physiological, and functional MRI sequences from 10 European parent cohorts.
By Leonard Pieperhoff, Mario Tranfa, Prithvi Arunachalam, Carole H Sudre, Beatriz Padrela, Federico Masserini, Stefano Caneva, Giuseppe Pontillo, Emma S. Luckett, Craig Ritchie, Mercè Boada, Marta Marquié, Wiesje van der Flier, Rik Vandenberghe, Lisa Quenon, Bernard J. Hanseeuw, Pablo Martínez-Lage, Pierre Payoux, Anouk den Braber, Pieter Jelle Visser, Michael Scholl, Giovanni B Frisoni, Andrew Stephens, Frank Jessen, Juan Domingo Gispert, Alle Meije Wink, Lyduine E. Collij, Luigi Lorenzini, Frederik Barkhof, Mathijs B. J. Dijsselhof, Henk-Jan M. M. Mutsaerts
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Nature
Verified
Landscape of copy number variants in Spanish people with dementia
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Abstract Recent studies suggest that copy number variants (CNVs) may contribute to the missing heritability of complex diseases such as Alzheimer’s disease (AD) and related dementias (ADRD). We performed a CNV analysis using genotyping data (Axiom 815 K Spanish biobank array) from the GR@ACE/DEGESCO dementia dataset (n = 20,067) of the Spanish population. Applying PennCNV and extensive quality control, 8275 controls and 7818 dementia cases were selected for gene-level case/control associations.
By Itziar de Rojas, Pablo García-González, Claudia Olive, Raquel Puerta, Laura Montrreal, Montserrat Alegret, Oscar Sotolongo-Grau, Amanda M. Cano, Marta Marquié, Sergi Valero, Miguel Calero, Alberto Rábano, Ana Pastor Verified, Teodoro del Ser, Inés Quintela, Juan Macias, Anaïs Corma-Gomez, Juan Pineda, Jose Royo, Silvia Mendoza, Carmen Lage, Carmen Antunez, Monica Diez-Fairen, Ignacio Alvarado Álvarez, Raquel Vilas, Manuel Menéndez-González, Carmen Rodriguez, Carmen Rodríguez Verified, Sebastián García-Madrona, Miquel Baquero, Jordi Pérez-Tur, Maria Bullido, Guillermo García-Ribas, Victoria Alvarez, Gerard Piñol-Ripoll, Eloy Rodriguez-Rodriguez, Jose María García-Alberca, Pablo Mir, Luis M. Real, Miguel Medina, Maria Saez, Ángel Carracedo, Michael T. Heneka, Mercè Boada, Pascual Sanchez-Juan, M. Fernández, Agustín Ruiz, Emilio Franco-Macías, Dolores Buiza-Rueda, María Bernal Sánchez-Arjona, Arturo Corbatón-Anchuelo, María Teresa Martínez-Larrad, Irene Rosas Allende, Ana Frank-García, Angel Martín-Montes, Lluís Tàrraga, Sven J. van der Lee
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Nature
Verified
Decreased amyloid-related structure–function coupling in preclinical Alzheimer’s disease
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Abstract Structural pathways of the brain facilitate functional communication, and their disruption in preclinical Alzheimer’s disease may reflect network vulnerability and compensatory brain maintenance. However, it remains unclear how early amyloid-β affects structure-function alignment, whether effects are explained by functional network organisation, how they relate to cognition, and which biological processes contribute to their development.
By Leonard Pieperhoff, Luigi Lorenzini, Mario Tranfa, Federico Masserini, Giuseppe Pontillo, Maria G. Preti, Tommy A. A. Broeders, Menno M Schoonheim, Linda Douw, Craig Ritchie, Mercè Boada, Marta Marquié, Pieter Jelle Visser, Raffaele Cacciaglia, Juan Domingo Gispert, Gemma Salvadó, Lyduine E. Collij, James Cole, Frederik Barkhof, Alle Meije Wink, Prithvi Arunachalam, Francesca Treves, Emma S. Luckett
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Nature
Verified
A minimally invasive dried blood spot biomarker test for the detection of Alzheimer’s disease pathology - Nature Medicine
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Abstract Blood biomarkers have emerged as accurate tools for detecting Alzheimer’s disease (AD) pathology, offering a minimally invasive alternative to traditional diagnostic methods such as imaging and cerebrospinal fluid (CSF) analysis. Yet, the logistics surrounding venipuncture for blood collection, although considerably simpler than the acquisition of imaging and CSF, require precise processing and storage specific to AD biomarkers that are still guided by medical personnel.
By Hanna Huber, Laia Montoliu-Gaya, Wagner S. Brum, Mercè Boada, Agustín Ruiz, Anna C. Dittrich, Clive Ballard, Frederikke Kragh Clemmensen, Sebastian Palmqvist, Alberto Lleó, Daniel Alcolea, Laura Videla Toro, Anja Hviid Simonsen, Juan Fortea, Lee A. Honigberg, Barbara Borroni, Oskar Hansson, Kaj Blennow, Henrik Zetterberg
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Nature
Verified
Machine learning in Alzheimer’s disease genetics - Nature Communications
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Abstract Traditional statistical approaches have advanced our understanding of the genetics of complex diseases, yet are limited to linear additive models. Here we applied machine learning (ML) to genome-wide data from 41,686 individuals in the largest European consortium on Alzheimer’s disease (AD) to investigate the effectiveness of various ML algorithms in replicating known findings, discovering novel loci, and predicting individuals at risk.
By Matthew Bracher-Smith, Céline Bellenguez, Peter A Holmans, Betty M. Tijms, Marc Hulsman, Itziar de Rojas, Rafael Campos-Martin, Fahri Küçükali, Oliver Peters, Anja Schneider, Martin Dichgans, Dan Rujescu, Norbert Scherbaum, Steffi G. Riedel-Heller, Lucrezia Hausner, Laura Molina-Porcel, Jens Wiltfang, Stefanie Heilmann-Heimbach, Susanne Moebus, Oriol Dols-Icardo, Fermín Moreno, Jordi Pérez-Tur, Maria Bullido, Victoria Alvarez, Mercè Boada, Pablo García-González, Raquel Puerta, Pablo Mir, Luis M. Real, Jose María García-Alberca, Eloy Rodriguez-Rodriguez, Hilkka Soininen, Sami Heikkinen, Jakub Hort, Jesper Qvist Thomassen, Henne Holstege, Philip Scheltens, Vilmantas Giedraitis, Julie Williams, Philippe Amouyel, Anne Boland, Gaël Nicolas, Carole Dufouil, Florence Pasquier, Stéphanie Debette, Edna Grünblatt, Roberta Ghidoni, Daniela Galimberti, Beatrice Arosio, Patrizia Mecocci, Vincenzo Solfrizzi, Lucilla Parnetti, Alessio Squassina, Michael Wagner, Benedetta Nacmias, Fabrizio Piras, Giacomina Rossi, Patrick Kehoe, Kristel Sleegers, Martin Ingelsson, Rebecca Sims, Ole A. Andreassen, Agustín Ruiz, Alfredo M. Ramirez, Alfredo Ramírez, Ruth Frikke-Schmidt, Najaf Amin, Gennady V Roshchupkin, Jean-Charles Lambert, Kristel Van Steen, Cornelia van Duijn, Tsolaki Magda
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Nature
Verified
Machine learning in Alzheimer’s disease genetics
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Scientists just discovered a secret code hidden in your DNA What scientists once dismissed as “junk” DNA may actually be some of the most powerful code in our genome. A new international study reveals that …
By Matthew Bracher-Smith, Federico Melograna, Brittany S. Ulm, Céline Bellenguez, Benjamin Grenier-Boley, Diane Duroux, Peter A Holmans, Betty M. Tijms, Marc Hulsman, Itziar de Rojas, Rafael Campos-Martin, Fahri Küçükali, Oliver Peters, Anja Schneider, Martin Dichgans, Dan Rujescu, Norbert Scherbaum, Jürgen Deckert, Steffi G. Riedel-Heller, Lucrezia Hausner, Laura Molina-Porcel, Emrah Düzel, Timo Grimmer, Jens Wiltfang, Stefanie Heilmann-Heimbach, Susanne Moebus, Thomas Tegos, Nikolaos Scarmeas, Oriol Dols-Icardo, Fermín Moreno, Jordi Pérez-Tur, Maria Bullido, Raquel Sánchez-Valle, Victoria Alvarez, Mercè Boada, Pablo García-González, Raquel Puerta, Pablo Mir, Luis M. Real, Gerard Piñol-Ripoll, Jose María García-Alberca, Eloy Rodriguez-Rodriguez, Hilkka Soininen, Sami Heikkinen, Alexandre de Mendonça, Latchezar Traykov, Jakub Hort, Martin Vyhnálek, Nicolai Sandau, Jesper Qvist Thomassen, Henne Holstege, Inez H.G.B. Ramakers, Frans R Verhey, Philip Scheltens, Caroline Graff, Goran Papenberg, Vilmantas Giedraitis, Julie Williams, Philippe Amouyel, Anne Boland, Jean-Francois Deleuze, Gaël Nicolas, Carole Dufouil, Florence Pasquier, Olivier Hanon, Stéphanie Debette, Edna Grünblatt, Julius Popp, Roberta Ghidoni, Daniela Galimberti, Beatrice Arosio, Patrizia Mecocci, Vincenzo Solfrizzi, Lucilla Parnetti, Alessio Squassina, Lucio Tremolizzo, Barbara Borroni, Michael Wagner, Benedetta Nacmias, Davide Seripa, Innocenzo Rainero, Antonio Daniele, Fabrizio Piras, Giacomina Rossi, Frank Jessen, Patrick Kehoe, Tsolaki Magda, Pascual Sanchez-Juan, Kristel Sleegers, Martin Ingelsson, Mikko Hiltunen, Rebecca Sims, Ole A. Andreassen, Agustín Ruiz, Alfredo M. Ramirez, Alfredo Ramírez, Ruth Frikke-Schmidt, Najaf Amin, Gennady V Roshchupkin, Jean-Charles Lambert, Kristel Van Steen, Cornelia van Duijn, Valentina Escott-Price, Alejo J. Nevado, Atahualpa Castillo, Shima Mehrabian, John van Swieten, Marco Spallazzi, Carlo Masullo
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Flipboard
Transferability of European-derived Alzheimer’s disease polygenic risk scores across multiancestry populations - Nature Genetics
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Abstract A polygenic score (PGS) for Alzheimer’s disease (AD) was derived recently from data on genome-wide significant loci in European ancestry populations. We applied this PGS to populations in 17 European countries and observed a consistent association with the AD risk, age at onset and cerebrospinal fluid levels of AD biomarkers, independently of apolipoprotein E locus (APOE). This PGS was also associated with the AD risk in many other populations of diverse ancestries.
By Aude Nicolas, Richard Sherva, Yoontae Kim, Masataka Kikuchi, Itziar de Rojas, Maria Carolina Dalmasso, Xiaopu Zhou, Yann Le Guen, Maëlenn Guerchet, Céline Bellenguez, Fahri Küçükali, Claudia L. Satizabal, Bernard Fongang, Qiong Yang, Oliver Peters, Anja Schneider, Martin Dichgans, Dan Rujescu, Norbert Scherbaum, Steffi G. Riedel-Heller, Lucrezia Hausner, Laura Molina-Porcel, Jens Wiltfang, Stefanie Heilmann-Heimbach, Susanne Moebus, Oriol Dols-Icardo, Fermín Moreno, Jordi Pérez-Tur, Maria Bullido, Victoria Alvarez, Han Cao, Nancy Y. Ip, Natividad Olivar, Carolina Muchnik, Mercè Boada, Pablo García-González, Raquel Puerta, Pablo Mir, Luis M. Real, Jose María García-Alberca, Eloy Rodriguez-Rodriguez, Hilkka Soininen, Sami Heikkinen, Jakub Hort, Jesper Qvist Thomassen, Henne Holstege, Harro Seelaar, Philip Scheltens, Maria F. Mahecha, Vera Fominykh, Geir Selbæk, Vilmantas Giedraitis, Anne Boland, Teresa Juárez-Cedillo, Lindsay A Farrer, Ellen M. Wijsman, Richard Mayeux, Margaret A. Pericak-Vance, Alison Goate, Badri Vardarajan, Yuk Yee Leung, Clifton L. Dalgard, Gaël Nicolas, David Wallon, Carole Dufouil, Stéphanie Debette, Edna Grünblatt, Bárbara Angel, Sergio Gloger, Paulina Orellana, Christian González-Billault, Cecilia Albala, Perminder S Sachdev, Karen A. Mather, Richard L Hauger, Victoria Merritt, Roberta Ghidoni, Daniela Galimberti, Beatrice Arosio, Patrizia Mecocci, Vincenzo Solfrizzi, Lucilla Parnetti, Alessio Squassina, Benedetta Nacmias, Jenifer S. Yokoyama, Akinori Miyashita, Norikazu Hara, Kouichi Ozaki, Julie Williams, Philippe Amouyel, Andy Saykin, Patrick Kehoe, Cornelia van Duijn, Ruth Frikke-Schmidt, Magda Tsolaki, Tenielle Porter, Simon Laws, Kristel Sleegers, Martin Ingelsson, Sudha Seshadri, Giacomina Rossi, Rebecca Sims, Ole A. Andreassen, Carlos Cruchaga, Valentina Escott-Price, Agustín Ruiz, Kun Ho Lee, Takeshi Ikeuchi, Alfredo M. Ramirez, Alfredo Ramírez, Mark W. Logue
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Nature
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A Spanish-Portuguese GWAS of progressive supranuclear palsy reveals a novel risk locus in NFASC - European Journal of Human Genetics
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Abstract Progressive supranuclear palsy (PSP) is a rare 4-repeat tauopathy that causes behavioural, movement and cognitive abnormalities. We genotyped all available clinical and histopathological PSP cases in Spain and Portugal (N = 522), and conducted the largest PSP GWAS of the Iberian population to date. Genetic burden analysis revealed reduced diagnostic specificity in clinically diagnosed atypical PSP cases—when applying the 2017 MDS criteria—compared to Richardson’s syndrome cases.
By Pablo García-González, Itziar de Rojas, Laura Saiz, Raquel Puerta, Javier Pagonabarraga, Oriol Dols-Icardo, Jaime Kulisevsky, Juan Fortea, Alberto Lleó, Claudia Olive, Marc Hulsman, Laura Muñoz-Delgado, Iban Aldecoa, Maite Mendioroz, Jordi Pérez-Tur, Pieter Jelle Visser, Angel Martín Montes, Josep Blazquez-Folch, Marta Marquié, María Capdevila-Bayo, Luis M. Real, Soledad Lopez Verified, Amaya Lavín, Ricardo Taipa, Marta Fernández-Matarrubia, Victoria Alvarez, Laura Molina-Porcel, Henne Holstege, Pablo Mir, Olivia Belbin, Mercè Boada, Maria Bullido, Alberto Rábano
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Nature
Verified
Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits - Nature Genetics
Abstract Brain metabolism perturbation can contribute to traits and diseases. We conducted a genome-wide association study for cerebrospinal fluid (CSF) and brain metabolite levels, identifying 205 independent associations (47.3% new signals, containing 11 new loci) for 139 CSF metabolites, and 32 independent associations (43.8% new signals, containing 4 new loci) for 31 brain metabolites.
Author Correction: Serum proteomics reveal APOE-ε4-dependent and APOE-ε4-independent protein signatures in Alzheimer’s disease - Nature Aging
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Correction to: Nature Aging https://doi.org/10.1038/s43587-024-00693-1, published online 21 August 2024. In the version of this article initially published, in Fig. 4a, the blue data points were presented as odds ratios in the same panels and on the same scale as the yellow data points (hazard ratios), which was incorrect. The blue data points are now shown separately as a beta estimate in the HTML and PDF versions of the article.
By Valur Emilsson, Thorarinn Jonmundsson, Anna E. Steindorsdottir, Erik Johnson, Raquel Puerta, Eric B. Dammer, Anantharaman Shantaraman, Mercè Boada, Pablo García-González, Elias F Gudmundsson, Rebecca Pitts, Xiazi Qiu, Joseph Loureiro, Anthony Orth, Nicholas T. Seyfried, Allan Levey, Agustín Ruiz, Thor Aspelund, Lori L. Jennings, Lenore J. Launer, Valborg Gudmundsdottir
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Nature
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Serum proteomics reveal APOE-ε4-dependent and APOE-ε4-independent protein signatures in Alzheimer’s disease - Nature Aging
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Abstract A deeper understanding of the molecular processes underlying late-onset Alzheimer’s disease (LOAD) could aid in biomarker and drug target discovery. Using high-throughput serum proteomics in the prospective population-based Age, Gene/Environment Susceptibility–Reykjavik Study (AGES) cohort of 5,127 older Icelandic adults (mean age, 76.6 ± 5.6 years), we identified 303 proteins associated with incident LOAD over a median follow-up of 12.8 years.
By Valur Emilsson, Thorarinn Jonmundsson, Erik Johnson, Raquel Puerta, Eric B. Dammer, Anantharaman Shantaraman, Mercè Boada, Pablo García-González, Elias F Gudmundsson, Rebecca Pitts, Joseph Loureiro, Anthony Orth, Nicholas T. Seyfried, Allan Levey, Agustín Ruiz, Thor Aspelund, Lori L. Jennings, Lenore J. Launer, Valborg Gudmundsdottir, Anna E. Steindorsdottir, Xiazi Qiu
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Nature
Verified
Carta abierta de Mercè Rubió al Patronato de la Fundació Rubió Tudurí Andrómaco.
Estos días se cumplen treinta años de la muerte de mi padre Fernando Rubió Tudurí. Había constituído la Fundación en 1987. Me pidió encarecidamente mi padre que aceptara ser miembro del Patronato, además de presidir su Fundación, confiaba en que velase por el cumplimiento de sus objetivos. Trabajaba yo por entonces como funcionaria pública de bibliotecas y me costó encontrar tiempo e involucrarme, pero finalmente accedí y le prometí lo que me pedía.
Different inflammatory signatures based on CSF biomarkers relate to preserved or diminished brain structure and cognition - Molecular Psychiatry
Abstract Neuroinflammation is a hallmark of Alzheimer’s disease (AD) and both positive and negative associations of individual inflammation-related markers with brain structure and cognitive function have been described. We aimed to identify inflammatory signatures of CSF immune-related markers that relate to changes of brain structure and cognition across the clinical spectrum ranging from normal aging to AD.
Proteome wide association studies of LRRK2 variants identify novel causal and druggable proteins for Parkinson’s disease - npj Parkinson's Disease
Abstract Common and rare variants in the LRRK2 locus are associated with Parkinson’s disease (PD) risk, but the downstream effects of these variants on protein levels remain unknown. We performed comprehensive proteogenomic analyses using the largest aptamer-based CSF proteomics study to date (7006 aptamers (6138 unique proteins) in 3107 individuals).
Author Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores - Nature Communications
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Author notes These authors contributed equally: Itziar de Rojas, Sonia Moreno-Grau, Niccolo Tesi, Benjamin Grenier-Boley, Victor Andrade, Iris E. Jansen. These authors jointly supervised this work: Jordi Clarimón, Mercè Boada, Wiesje M. van der Flier, Alfredo Ramirez, Jean-Charles Lambert, Sven J. van der Lee, Agustín Ruiz.
By Itziar de Rojas, Najada Stringa, Anna Zettergren, Rebecca Sims, Céline Bellenguez, Miguel Calero, Monica Diez-Fairen, Carmen Lage, Pablo García-González, Alba Pérez-Cordón, Alberto Benussi, Alessio Squassina, Ana Pastor Verified, Arvid Rongve, Benedetta Nacmias, Børge G Nordestgaard, Chandra A Reynolds, Christine Van Broeckhoven, Christopher Clark, Claudia Pisanu, Claudia L. Satizabal, Dag Aarsland, Daniel Alcolea, Daniela Galimberti, David Wallon, Edna Grünblatt, Fahri Küçükali, Florence Pasquier, Gaël Nicolas, Geir Selbæk, Henrik Zetterberg, Hilkka Soininen, Ignacio J. Álvarez, Ingvild Saltvedt, Jean-Sébastien Vidal, Johannes Kornhuber, Jonathan Haines, Juan Pineda, Kevin Morgan, Kristel Sleegers, Lindsay A Farrer, M. Arfan Ikram, Magda Tsolaki, Margaret A. Pericak-Vance, Martin Dichgans, Michael Ewers, Michael Wagner, Olivier Quenez, Paola Bossù, Peter A Holmans, Qiong Yang, Sara Hägg, Srdjan Djurovic, Valentina Escott-Price, Vilmantas Giedraitis, Xueqiu Jian, Patrick Kehoe, Pascual Sanchez-Juan, Maria Bullido, Alberto Lleó, Miguel Medina, Henne Holstege, Maria Saez, Philippe Amouyel, Julie Williams, Sudha Seshadri, Karen A. Mather, Kaj Blennow, Ole A. Andreassen, Mercè Boada, Alfredo Ramirez, Alfredo Ramírez, Jean-Charles Lambert, Rick M. Tankard, Laura Cervera-Carles, Manuel Menéndez-González, Angel Martín Montes, Annakaisa Haapasalo, Eloy Rodriguez-Rodriguez, Jasper Van Dongen, Jonathan Vogelgsang, Valentina Bessi, Jordi Pérez-Tur, Jose María García-Alberca, Luis M. Real
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Nature
Verified
Plasma exchange for Alzheimer's disease Management by Albumin Replacement (AMBAR) trial: Study design and progress
1. Introduction Alzheimer's disease (AD) is the most common cause of dementia in adults [1x[1]Ferri, C.P., Prince, M., Brayne, C., Brodaty, H., Fratiglioni, L., Ganguli, M. et al. Global prevalence of dementia: a Delphi consensus study. Lancet. 2005; 366: 2112–2117 Google ScholarSee all References][1].
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