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Articles by Pablo Mir
Landscape of copy number variants in Spanish people with dementia
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.
LRRK2 -targeting antisense oligonucleotide in Parkinson’s disease: a phase 1 randomized controlled trial
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Abstract LRRK2 (encoding leucine-rich repeat kinase 2) variants are the most common genetic cause of Parkinson’s disease (PD). Lowering LRRK2 levels and/or inhibiting LRRK2 activity may modify PD-associated neuropathology. BIIB094 (ION859), an antisense oligonucleotide, targets LRRK2 mRNA for degradation. REASON was a first-in-human randomized phase 1 study investigating the safety, tolerability, pharmacokinetics and pharmacodynamics of intrathecal BIIB094 in patients with PD.
By Omar S. Mabrouk, Ben Tichler, Eva Thoma, Sara Alexanian, Jingxian Chen, Tzu-Ying Liu, John Annand, Unnati Kapadnis, Kyle Ferber, Yuka Moroishi, Julie M Czerkowicz, Jennifer A. Inra, Ronald B. Postuma, Tanya Gurevich, Pablo Mir, Huw Morris, Jason Aldred, Matthew Brodsky, Aaron Ellenbogen, Christopher M Tolleson, Andrew Siderowf, Charalampos Tzoulis, María Martí, Hien T. Zhao, Holly B. Kordasiewicz, Roger M Lane, Warren D. Hirst, Stephanie Fradette, Danielle Graham, H. Moore Arnold, Beth Hirschhorn, Roy Llorens Arenas, Alan A. Shomo, Kelly E. Glajch, Danielle Larson, Ernest Balaguer
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Nature
Verified
“Recommendations for clinical study protocols for immune and inflammatory profiling in Parkinson’s disease” - npj Parkinson's Disease
Abstract Growing evidence supports the importance of immune processes in Parkinson’s disease (PD). However, there is a need to improve the quality of observational clinical studies investigating the role of immunity in PD. In this context, an expert panel from the COST Action IMMUPARKNET (CA21117) aimed to develop guidance recommendations for conducting optimal immune profiling in PD.
Profile of People With Parkinson's Disease Treated With a Device‐Aided Therapy in Spain. A Comparative Multicenter Observational Study
Disclosures Ethical Compliance Statement: The project is being conducted in accordance with the ICH Good Clinical Practice version 6 Revision 2 standard, the fundamental ethical principles established in the Declaration of Helsinki and the Oviedo Convention, as well as the Spanish legal requirements for biomedical research (Biomedical Research Law 14/2007).
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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Impacto de la fisioterapia y terapia cognitivo-conductual en la calidad de vida de los pacientes con trastornos del movimiento funcional: importancia de un abordaje integrado
Ayuda Buscar en la ayuda Buscar en la ayuda Impacto de la fisioterapia y terapia cognitivo-conductual en la calidad de vida de los pacientes con trastornos del movimiento funcional: importancia de un abordaje integrado Daniel Macías-García [1] ; Pablo Mir [1] [1] Unidad de Trastornos del Movimiento, Servicio de Neurología, Instituto de Biomedicina de Sevilla Localización: Actas de coordinación sociosanitaria, ISSN-e 2529-8240, Nº. 36, 2025, págs.
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
Cortical hypometabolism in Parkinson’s disease is linked to cholinergic basal forebrain atrophy - Molecular Psychiatry
Abstract Cortical hypometabolism on FDG-PET is a well-established neuroimaging biomarker of cognitive impairment in Parkinson’s disease (PD), but its pathophysiologic origins are incompletely understood. Cholinergic basal forebrain (cBF) degeneration is a prominent pathological feature of PD-related cognitive impairment and may contribute to cortical hypometabolism through cholinergic denervation of cortical projection areas.
Wrecks’ Curse – The World of Wreck Diving
By Pablo Mir We all enjoy those unexpected encounters that come with wreck diving, no matter how small, during our open water scuba dives. Exploring those nearly vanished remains of a ship scattered across the ocean floor is frequently the climax of the otherwise regular dive. Wreck diving involves exploring underwater shipwrecks while scuba diving. Sometimes, the wreck we encounter is more than just the remnants of a small and forgotten old vessel.
The Impact of Nonmotor Symptoms on Health-Related Quality of Life in Parkinson’s Disease: A Network Analysis Approach
2.4. Statistical Analysis For descriptive statistics, normality was tested using the Shapiro–Wilk test. The results are reported as numbers and percentages for categorical variables and the median and interquartile range (IQR) for non-normally distributed continuous variables. The statistical significance for all tests was set at p < 0.05 (two-tailed). Network analyses based on partial correlations were conducted to explore the associations between the 30 NMSS items and HRQoL.
Validation of a simple screening tool for early diagnosis of advanced Parkinson’s disease in daily practice: the CDEPA questionnaire
Abstract Early clinical diagnosis of advanced Parkinson’s disease (APD) may be difficult. This study aimed to validate a simple screening tool, the CDEPA questionnaire (“Cuestionario De Enfermedad de Parkinson Avanzada” [Questionnaire for Advanced Parkinson’s Disease]), for the identification of APD in daily practice. The study included 173 consecutively selected patients with PD (40% were women, mean age was 68.4 ± 10.5 years), stratified according to the Hoehn and Yahr (HY) scale.
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