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Articles by Daniela Galimberti
Saliva as a Complementary Matrix to Whole Blood in Untargeted Lipidomics and Metabolomics: A Baseline Profiling Study in Healthy Subjects
Background/Objectives: Oral fluid (OF) is a promising non-invasive matrix for metabolomic and lipidomic profiling, owing to its simple and repeatable collection. However, a direct, simultaneous comparison of the OF and whole blood (WB) lipidome and metabolome using a harmonized analytical workflow in healthy subjects has not yet been systematically addressed.
The role of neural derived extracellular vesicles micro-ribonucleic acid cargo in white matter integrity in early-onset and late-onset bipolar disorder | Molecular Psychiatry
Abstract Bipolar disorder (BD) shows different clinical manifestations according to illness onset (early vs late onset). Its etiology is multifaceted and no reliable biomarkers are available. However, clinical manifestations of BD may stem from disruption in white matter (WM) integrity within brain networks or selective epigenetic alterations, including plasma neural derived extracellular vesicles (NDEVs).
Clinical recognition of frontotemporal dementia with right temporal predominance: a consensus statement from the International Working Group - Communications Medicine
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Abstract Accurate diagnosis of frontotemporal dementia (FTD) with right anterior temporal lobe (RATL) predominance remains challenging due to lack of clinical characterization, and standardized terminology. The recent research of the International Working Group (IWG) identified common symptoms but also unveiled broad terminologies lacking precision and operationalization, with risk of misdiagnoses, inappropriate referrals and poor clinical management.
By Hulya Ulugut, Maxime Montembeault, Maxime Bertoux, Muireann Irish, Fiona Kumfor, Giorgio G. Fumagalli, Bedia Samanci, Alexander Santillo, Elisabet Englund, Rik Vandenberghe, Robert Laforce Jr, Paulo Caramelli, Daniela Galimberti, Florence Pasquier, Sandra Weintraub, Virginia E. Sturm, Bradley F. Boeve, Olivier Piguet, Keith A. Josephs, Julie S. Snowden, James Rowe, Katherine P. Rankin
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Nature
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Cortical microstructure is associated with disease severity and clinical progression in genetic frontotemporal dementia: a GENFI study - Molecular Psychiatry
Abstract The study of genetic frontotemporal dementia (FTD) allows investigating its earliest presymptomatic stages. Using cross-sectional T1-weighted and diffusion-weighted MRI, we test the hypothesis that cortical microstructural alterations, quantified as cortical mean diffusivity (cMD), are detectable earlier and are more strongly associated with clinical progression than cortical thickness (CTh).
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
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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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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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Frontotemporal dementia: from genetics to therapeutic approaches
References Neary D, Brun A, Englund B, et al. Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester groups. J Neurol Neurosurg Psychiatry. 1994;57:416–418. doi: 10.1136/jnnp.57.4.416 PubMed Web of Science ®Google Scholar Moore KM, Nicholas J, Grossman M, et al. Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study. Lancet Neurol. 2020;19:145–156.
Salivary biomarkers: novel noninvasive tools to diagnose chronic inflammation - International Journal of Oral Science
Abstract Several chronic disorders including type 2 diabetes (T2D), obesity, heart disease and cancer are preceded by a state of chronic low-grade inflammation. Biomarkers for the early assessment of chronic disorders encompass acute phase proteins (APP), cytokines and chemokines, pro-inflammatory enzymes, lipids and oxidative stress mediators. These substances enter saliva through the blood flow and, in some cases, there is a close relation between their salivary and serum concentration.
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
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Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease - Nature Genetics
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Abstract Alzheimer’s disease (AD), the leading cause of dementia, has an estimated heritability of approximately 70%1. The genetic component of AD has been mainly assessed using genome-wide association studies, which do not capture the risk contributed by rare variants2. Here, we compared the gene-based burden of rare damaging variants in exome sequencing data from 32,558 individuals—16,036 AD cases and 16,522 controls.
By Henne Holstege, Marc Hulsman, Rebecca Sims, Shahzad Ahmad, Najaf Amin, Oriol Dols-Icardo, Philippe Amouyel, Claudine Berr, Joshua C. Bis, Stéphanie Debette, Lindsay A Farrer, Maria Fernandez, María Fernández Verified, Nick Fox Verified, Daniela Galimberti, Emmanuelle Génin, Yann Le Guen, Jonathan Haines, M. Arfan Ikram, Robert Kraaij, Merel O. Mol, Kevin Morgan, Adam C. Naj, Valerio Napolioni, Florence Pasquier, Margaret A. Pericak-Vance, Rachel Raybould, Richard Redon, Steffi G. Riedel-Heller, Fernando Rivadeneira, Jonathan M Schott, Sudha Seshadri, Gianfranco Spalletta, André G. Uitterlinden, Jennifer S. Yokoyama, Alfredo Ramirez, Alfredo Ramírez, Simon Mead, Julie Williams, Gaël Nicolas, Céline Bellenguez, Olivier Quenez, Detelina Grozeva, Penny J. Norsworthy, Paola Bossù, J. Nicholas Cochran, Benedetta Nacmias, Pascual Sanchez-Juan, Resie van Spaendonk, Niccolo’ Tesi
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Nature
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Temporal order of clinical and biomarker changes in familial frontotemporal dementia - Nature Medicine
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Abstract Unlike familial Alzheimer’s disease, we have been unable to accurately predict symptom onset in presymptomatic familial frontotemporal dementia (f-FTD) mutation carriers, which is a major hurdle to designing disease prevention trials. We developed multimodal models for f-FTD disease progression and estimated clinical trial sample sizes in C9orf72, GRN and MAPT mutation carriers.
By Adam M. Staffaroni, Melanie Quintana, Barbara Wendelberger, Lucy Russell, Yann Cobigo, Tania F. Gendron, Jack Taylor, Lawren Vande Vrede, Hugo Botha, Kimiko Domoto-Reilly, Tatiana Foroud, Daniel H Geschwind, Nupur Ghoshal, Ging-Yuek R. Hsiung, David Jones, David S. Knopman, Maria Lapid, Irene Litvan, Mario Mendez, Mario Méndez Verified, Rosa Rademakers, Vijay Ramanan, Erik D. Roberson, M. Carmela Tartaglia, Arabella Bouzigues, Georgia Peakman, Martina Bocchetta, James Rowe, Daniela Galimberti, Harro Seelaar, Sandro Sorbi, Alexander Gerhard, Tobias Langheinrich, Robert Laforce, Raquel Sánchez-Valle, Adrian Danek, Florence Pasquier, Bradley F. Boeve, Adam. L. Boxer
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Nature
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Cerebrospinal fluid glutamate changes in functional movement disorders
Abstract The aim of this study was to assess cerebrospinal fluid (CSF) concentrations of specific amino acids using a high-performance liquid chromatography system in a sample of patients with functional movement disorders (FMDs) and in a sample of controls. CSF levels of glutamate were significantly lower in patients with FMD than in controls. This finding argues in favor of glutamatergic dysfunction in the pathophysiology of FMD.
Genetic risk factors and role of immune dysfunction in FTLD
A new study has identified novel genes involved in sporadic frontotemporal lobar degeneration with neuronal inclusions of TAR DNA-binding protein 43. These findings might enable the elucidation of pathogenic mechanisms of the disease and have implications for the identification of potential therapeutic targets. Access optionsAccess options Subscribe to Journal Get full journal access for 1 year $213.00 only $17.75 per issue All prices are NET prices. VAT will be added later in the checkout.
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