Dementia, Movement Disorders, Neurodegenerative diseases, Clinical Neurology
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Scopus Publications
Scopus Publications
Dissecting genetic variant contributions to neurodegenerative disorders through targeted gene sequencing in a Sicilian population Simone Treccarichi, Carla Papa, Mirella Vinci, Filomena Irene Ilaria Cosentino, Guido Scalia, Giovanni Mostile, Mario Zappia, Alessandra Nicoletti, Manuela Pennisi, Antonino Musumeci, Valeria Chiavetta, Vincenzo Di Stefano, Tommaso Piccoli, Valeria Blandino, Mariangela Tripodi, Bartolo Lanuzza, Manuela Morreale, Chiara Cupidi, Raffaele Ferri, Giuseppe Lanza, Francesco Cali Scientific Reports, 2026 Despite the technological advancements in modern genetic diagnosis, customized genetic panels are still frequently employed for diagnostic purposes due to their rapid, efficient, and cost-effective ability to detect genetic variants. In this study, we utilized a customized genetic panel designed to identify genetic variants associated with neurodegenerative disorders. The panel consisted of 61 genes and was applied to a cohort of 186 unrelated individuals diagnosed with different degenerative cognitive and movement disorders. The identified variants were filtered for a minor allele frequency of less than 1% and classified according to the American College of Medical Genetics (ACMG) guidelines. Our results showed that 20.97% of individuals carried at least one likely pathogenic or pathogenic variant, with 35% of those individuals diagnosed with Alzheimer's disease (AD). The positive diagnostic yield of the panel was 16.67%, calculated based on variant zygosity, inheritance pattern, and concordance with the clinical phenotype. Furthermore, 34.41% of the individuals carried variants of uncertain significance (VUS), and 44.62% carried benign variants. Variants have been found only in 58 genes. Among these, 24.14% showed benign variants, 48.28% had VUS, and 27.59% carried pathogenic or likely pathogenic variants. Principal component analysis analysis based on the variables "age at onset" in addition to the phenotypic scores "MMSE" (global cognitive screening test), "IADL" (instrumental activities of daily living), and "ADL" (basic activities of daily living) distributed the individuals associated with the specific disease and variant in the plot. Notably, the individuals showed AD exhibited an average age at onset of 68 ± 12.5 years and were differentiated in the plot. GBA gene exhibited the highest number of pathogenic variants (9) linked to AD, Parkinson's disease, early onset parkinsonism with epilepsy, fronto-temporal dementia, and mild cognitive impairment. The results highlighted a broad phenotypic heterogeneity associated with genes previously linked to only a limited number of neurodegenerative conditions, underscoring the value of the genetic testing performed. Translationally, although clinical exome sequencing has enabled novel gene discovery in neurodegenerative disorders, targeted genetic panels remain a cost-effective and clinically valuable approach for routine diagnostics. In this context, our study highlights the "real-world" utility and clinical impact of a focused panel-based strategy.
International consensus for the assessment of social cognition in neurocognitive disorders: framework definition and clinical recommendations of the SIGNATURE initiative Alessandra Dodich, Andrea Panzavolta, Giulia Funghi, Claudia Meli, Cristina Festari, Thanos Chatzikostopoulos, Christian Chicherio, Florencia Clarens, Fabricio Ferreira de Oliveira, Marco Filardi, Agustin Ibanez, Laura Invernizzi, Thibaud Lebouvier, Giancarlo Logroscino, Sarah E. MacPherson, Riccardo Manca, Camillo Marra, Jordi A. Matias-Guiu, Maxime Montembeault, Costanza Papagno, Simone Pomati, Mario Possenti, Olivier Piguet, Leonardo Sacco, Ann-Katrin Schild, Marc Sollberger, Miguel Tábuas-Pereira, Marianna Tsatali, Magda Tsolaki, Esther van den Berg, Stefano F. Cappa, Maxime Bertoux, Fiona Kumfor, Jan Van den Stock, Marina Boccardi, Kathleen Anne Welsh-Bohmer, Chiara Cerami, , Federica Agosta, Elisa Canu, Ove Almkvist, Goran Hagman, Bengt Winblad, Daniele Altomare, Davide Angioni, Jean-Marie Annoni, Luca Beretta, Manfred Berres, Valentina Bessi, Ingo Fimm, Ingo Kilimann, Emre Bora, Andrea Brioschi-Guevara, Andreas Buchmann, Anton Gietl, Cinzia Bussè, Annachiara Cagnin, Russell Chander, Matthias Kliegel, Nathalie Mella, Alfredo Costa, Camille Coulangers, Pierre-Jean Ousset, Chiara Cupidi, Jean-François Démonet, Mira Didic, Francesco Di Lorenzo, Bruno Dubois, Alan Cronemberger Andrade, Bruno Fimm, Douglas Galasko, Nicola Girtler, Flavio Nobili, Matteo Pardini, Julie Henry, Renelle Bourdage, Lize Jiskoot, Jackie Poos, Haaro Seelaar, Stefan Klöppel, Christine Krebs, Walter A. Kukull, Richard Levy, Marisa Lima, Antonella Luca, Simona Luzzi, Marta Fernández Matarrubia, Patrizia Mecocci, Martina Pigliautile, Alina Menichelli, Micaela Mitolo, Andreas U. Monsch, Despoina Moraitou, Petr Novak, Miriam E. Ortiz, Sokratis Papageorgiou, Nikolaos Scarmeas, John Papatriantafyllou, Andrea Plutino, Davide Quaranta, Inez Ramakers, Stefania Rossi, Mirella Russo, Stefano Sensi, Perminder Sachdev, David P. Salmon, Pilar Sanchez, Florian Schöberl, Steven D. Shirk, Alessio Toraldo, Annalena Venneri, Dix Meiberth, Maurizio Gallucci, Fotini Kounti, Silvia Rodrigo Herrero, Pietro Marano, Tommaso Piccoli, Samrah Ahmed, Fabiola Böhm, Matthias Schroeter, Susanna Vestberg, Marie Söntgerath, Jennifer Thompson, Tamlyn Watermeyer, Hendrick-Jan van der Waal, Lucy Chrisman-Russell, Silvana Morson, Lucas Wolski, Renzo Dori, Andrea Fabbo, Chiara Galli, Claudia Bartels, Gert Geurtsen, Francesca Baglio, Sara Isernia, Cem Dogdu, Elisa Ruiu, Fijanne Strijkert, Nikki Zimmermann, Wendy Weidner, Helena Briales, Rita Pezzati, Anne Rita Oksengard, Angela Bradshaw Alzheimer S Research and Therapy, 2026 BACKGROUND: Socio-cognitive assessment in neurocognitive disorders (NCDs) is rare in clinical practice and no consensus exists as to a uniform operationalization of socio-cognitive measures for NCDs in memory clinics. The SIGNATURE initiative aims to optimize the use of socio-cognitive measures in memory clinics, defining expert recommendations. We report consortium guidelines for the use of socio-cognitive measures in NCDs based on available evidence from the literature and the current state of practices in memory clinics. METHODS: Using a Delphi consensus method supported by a literature review and the results of an international survey, 22 specialists defined recommendations for the context of use, relevance in NCD diagnosis, priorities for future research and facilitators/obstacles of socio-cognitive assessment in major and mild NCDs. RESULTS: Overall, panelists recommended social cognition testing in routine diagnostic assessment to evaluate both socio-cognitive and socio-behavioral alterations. A set of clinical, methodological, implementation and external factors facilitating or hampering the use of socio-cognitive tasks was identified. CONCLUSIONS: This is the first focused endeavor to favor the implementation of socio-cognitive assessment, which is required by DSM-5 but seldom performed despite clear evidence of its clinical relevance for diagnosis and care. Our results provide an initial set of recommendations, refinable through the future actions of the SIGNATURE initiative. Future collaborative clinical research projects should overcome current limitations and foster the use of ecological and cross-culturally validated measures in clinics.
Multisession gamma tACS modulates extracellular vesicle dynamics Sonia Bellini, Valentina Cantoni, Antonio Longobardi, Chiara Cupidi, Valeria Bracca, Andrea Geviti, Elisa Zummo, Maria Sofia Cotelli, Enrico Premi, Alberto Benussi, Roberta Ghidoni, Barbara Borroni Brain Stimulation, 2026 Recent literature has demonstrated alterations in gamma-band oscillations in patients with Alzheimer's disease (AD), implicated in deficits in memory, neural communication, and synaptic plasticity [1]. Dysregulation of gamma oscillations can be modulated through different approaches, including sensory and electrical stimulation [1,2]. Among these, transcranial alternating current stimulation (tACS) is a non-invasive brain stimulation technique capable of entraining endogenous oscillatory activity to an externally applied alternating current at a specific frequency [3]. In a double-blind, randomized, sham-controlled clinical trial, it was recently demonstrated that multisession gamma tACS applied over the precuneus resulted in significant clinical efficacy, cholinergic improvement, and gamma entrainment in patients with mild AD [4]. However, the biological mechanisms underlying its clinical efficacy remain largely unknown. Notably, no significant effects were observed in blood-based markers of AD pathology, including phosphorylated tau 217 (p-tau217), markers of neurodegeneration such as neurofilament light chain (NfL), or markers of astroglial activation such as glial fibrillary acidic protein (GFAP) [4].
Home-Based Gamma Transcranial Alternating Current Stimulation in Patients With Alzheimer Disease: A Randomized Clinical Trial Valentina Cantoni, Elias Paolo Casula, Barbara Tarantino, Chiara Cupidi, Nadine Huber, Daniele Altomare, Enrico Premi, Elisa Zummo, Romina Esposito, Carla Leonardi, Sanna-Kaisa Herukka, Eino Solje, Asia Ferrari, Maria Sofia Cotelli, Roberto Gasparotti, Alessandro Martorana, Claudia Fracassi, Emiliano Santarnecchi, Giacomo Koch, Annakaisa Haapasalo, Mario Grassi, Alberto Benussi, Barbara Borroni JAMA Network Open, 2025 Importance Alzheimer disease (AD) is characterized by dysregulated gamma brain oscillations. Transcranial alternating current stimulation (tACS) is a novel, noninvasive brain stimulation technique capable of entraining cerebral oscillations at targeted frequencies. Objective To assess the safety, feasibility, and efficacy of home-based gamma tACS applied over the precuneus in patients with prodromal and mild AD. Design, Setting, and Participants This double-blind, randomized, sham-controlled clinical trial with an open-label extension phase was conducted at a tertiary AD research clinic in Italy from December 10, 2022, to October 15, 2024. Patients with a diagnosis of AD were eligible to participate. Intervention Participants were randomized to receive either home-based gamma tACS (5 sessions/wk, 60 minutes each) or sham stimulation for 8 weeks (double-blind phase). All participants subsequently received gamma tACS for an additional 8 weeks (open-label phase) and an 8-week follow-up. Main Outcomes and Measures The primary end points were safety, feasibility, and clinical efficacy. Secondary end points included measures of biological efficacy, including gamma band power via electroencephalography, cholinergic neurotransmission, AD plasma biomarker levels, and brain connectivity as assessed via magnetic resonance imaging. Results Sixty consecutive patients with prodromal or mild AD were screened; 50 were randomized to gamma or sham tACS (mean [SD] age, 67.3 [7.8] years; 25 [50.0%] female and 25 [50.0%] male). Home-based gamma tACS was safe and well-tolerated. A significant enhancement in global cognitive functions, activities of daily living, and associative memory performances was observed. Marginal mean differences between the sham vs gamma tACS groups were significant for the Clinical Dementia Rating sum of boxes (0.35; 95% CI, 0.10-0.61; P = .007), Alzheimer Disease Assessment Scale–cognitive subscale (0.93; 95% CI, 0.50-1.36; P = .001), Alzheimer Disease Cooperative Study–Activities of Daily Living (−0.55; 95% CI, −0.89 to −0.21; P = .02), and Face-Name Association Test (−1.14; 95% CI, −1.66 to −0.61; P ≤ .001). During the open-label phase, a significant marginal mean difference was observed for Alzheimer Disease Assessment Scale–cognitive subscale (−0.59; 95% CI, −1.02 to −0.16; P = .007), Alzheimer Disease Cooperative Study–Activities of Daily Living (0.41; 95% CI, 0.04-0.08; P = .02), and Face-Name Association Test (1.04; 95% CI, 0.50-1.57; P = .003). Neurophysiological measures showed an increase in cholinergic transmission, coinciding with an increase in gamma power following gamma tACS, effects not seen with sham stimulation. No changes of plasma biomarkers were observed. No add-on effect was observed after 2 repeated treatments with gamma tACS, suggesting that 8 rather than 16 weeks of treatment represents the ideal duration. Conclusions and Relevance In this randomized clinical trial, home-based gamma tACS was feasible and improved clinical outcomes in AD, with neurophysiological evidence of brain engagement. These findings support further investigation of gamma tACS as a potential therapeutic intervention for AD. Trial Registration ClinicalTrials.gov Identifier: NCT05643326
Home-based transcranial alternating current stimulation (tACS) in Alzheimer’s disease: rationale and study design Daniele Altomare, Alberto Benussi, Valentina Cantoni, Enrico Premi, Jasmine Rivolta, Chiara Cupidi, Alessandro Martorana, Emiliano Santarnecchi, Alessandro Padovani, Giacomo Koch, Barbara Borroni Alzheimer S Research and Therapy, 2023 Background Gamma (γ) brain oscillations are dysregulated in Alzheimer’s disease (AD) and can be modulated using transcranial alternating stimulation (tACS). In the present paper, we describe the rationale and design of a study assessing safety, feasibility, clinical and biological efficacy, and predictors of outcome of a home-based intervention consisting of γ-tACS over the precuneus. Methods In a first phase, 60 AD patients will be randomized into two arms: ARM1, 8-week precuneus γ-tACS (frequency: 40 Hz, intensity: 2 mA, duration: 5 60-min sessions/week); and ARM2, 8-week sham tACS (same parameters as the real γ-tACS, with the current being discontinued 5 s after the beginning of the stimulation). In a second phase, all participants will receive 8-week γ-tACS (same parameters as the real γ-tACS in the first phase). The study outcomes will be collected at several timepoints throughout the study duration and include information on safety and feasibility, neuropsychological assessment, blood sampling, electroencephalography, transcranial magnetic stimulation neurotransmitter measures, and magnetic resonance imaging or amyloid positron emission tomography. Results We expect that this intervention is safe and feasible and results in the improvement of cognition, entrainment of gamma oscillations, increased functional connectivity, reduction of pathological burden, and increased cholinergic transmission. Conclusions If our expected results are achieved, home-based interventions using γ-tACS, either alone or in combination with other therapies, may become a reality for treating AD. Trial registration PNRR-POC-2022–12376021.
Prioritization of Drug Targets for Neurodegenerative Diseases by Integrating Genetic and Proteomic Data From Brain and Blood Yi-Jun Ge, Ya-Nan Ou, Yue-Ting Deng, Bang-Sheng Wu, Liu Yang, Ya-Ru Zhang, Shi-Dong Chen, Yu-Yuan Huang, Qiang Dong, Lan Tan, Jin-Tai Yu, Raffaele Ferrari, Dena G. Hernandez, Michael A. Nalls, Jonathan D. Rohrer, Adaikalavan Ramasamy, John B.J. Kwok, Carol Dobson-Stone, William S. Brooks, Peter R. Schofield, Glenda M. Halliday, John R. Hodges, Olivier Piguet, Lauren Bartley, Elizabeth Thompson, Eric Haan, Isabel Hernández, Agustín Ruiz, Mercè Boada, Barbara Borroni, Alessandro Padovani, Carlos Cruchaga, Nigel J. Cairns, Luisa Benussi, Giuliano Binetti, Roberta Ghidoni, Gianluigi Forloni, Daniela Galimberti, Chiara Fenoglio, Maria Serpente, Elio Scarpini, Jordi Clarimón, Alberto Lleó, Rafael Blesa, Maria Landqvist Waldö, Karin Nilsson, Christer Nilsson, Ian R.A. Mackenzie, Ging-Yuek R. Hsiung, David M.A. Mann, Jordan Grafman, Christopher M. Morris, Johannes Attems, Timothy D. Griffiths, Ian G. McKeith, Alan J. Thomas, P. Pietrini, Edward D. Huey, Eric M. Wassermann, Atik Baborie, Evelyn Jaros, Michael C. Tierney, Pau Pastor, Cristina Razquin, Sara Ortega-Cubero, Elena Alonso, Robert Perneczky, Janine Diehl-Schmid, Panagiotis Alexopoulos, Alexander Kurz, Innocenzo Rainero, Elisa Rubino, Lorenzo Pinessi, Ekaterina Rogaeva, Peter St. George-Hyslop, Giacomina Rossi, Fabrizio Tagliavini, Giorgio Giaccone, James B. Rowe, Johannes C.M. Schlachetzki, James Uphill, John Collinge, Simon Mead, Adrian Danek, Vivianna M. Van Deerlin, Murray Grossman, John Q. Trojanowski, Julie van der Zee, William Deschamps, Tim Van Langenhove, Marc Cruts, Christine Van Broeckhoven, Stefano F. Cappa, Isabelle Le Ber, Didier Hannequin, Véronique Golfier, Martine Vercelletto, Alexis Brice, Benedetta Nacmias, Sandro Sorbi, Silvia Bagnoli, Irene Piaceri, Jørgen E. Nielsen, Lena E. Hjermind, Matthias Riemenschneider, Manuel Mayhaus, Bernd Ibach, Gilles Gasparoni, Sabrina Pichler, Wei Gu, Martin N. Rossor, Nick C. Fox, Jason D. Warren, Maria Grazia Spillantini, Huw R. Morris, Patrizia Rizzu, Peter Heutink, Julie S. Snowden, Sara Rollinson, Anna Richardson, Alexander Gerhard, Amalia C. Bruni, Raffaele Maletta, Francesca Frangipane, Chiara Cupidi, Livia Bernardi, Maria Anfossi, Maura Gallo, Maria Elena Conidi, Nicoletta Smirne, Rosa Rademakers, Matt Baker, Dennis W. Dickson, Neill R. Graff-Radford, Ronald C. Petersen, David Knopman, Keith A. Josephs, Bradley F. Boeve, Joseph E. Parisi, William W. Seeley, Bruce L. Miller, Anna M. Karydas, Howard Rosen, John C. van Swieten, Elise G.P. Dopper, Harro Seelaar, Yolande A.L. Pijnenburg, Philip Scheltens, Giancarlo Logroscino, Rosa Capozzo, Valeria Novelli, Annibale A. Puca, Massimo Franceschi, Alfredo Postiglione, Graziella Milan, Paolo Sorrentino, Mark Kristiansen, Huei-Hsin Chiang, Caroline Graff, Florence Pasquier, Adeline Rollin, Vincent Deramecourt, Florence Lebert, Dimitrios Kapogiannis, Luigi Ferrucci, Stuart Pickering-Brown, Andrew B. Singleton, John Hardy, Parastoo Momeni Biological Psychiatry, 2023
Neuropsychiatric or Behavioral and Psychological Symptoms of Dementia (BPSD): Focus on Prevalence and Natural History in Alzheimer's Disease and Frontotemporal Dementia Valentina Laganà, Francesco Bruno, Natalia Altomari, Giulia Bruni, Nicoletta Smirne, Sabrina Curcio, Maria Mirabelli, Rosanna Colao, Gianfranco Puccio, Francesca Frangipane, Chiara Cupidi, Giusy Torchia, Gabriella Muraca, Antonio Malvaso, Desirèe Addesi, Alberto Montesanto, Raffaele Di Lorenzo, Amalia Cecilia Bruni, Raffaele Maletta Frontiers in Neurology, 2022 Neuropsychiatric or behavioral and psychological symptoms of dementia (BPSD) represent a heterogeneous group of non-cognitive symptoms that are virtually present in all patients during the course of their disease. The aim of this study is to examine the prevalence and natural history of BPSD in a large cohort of patients with behavioral variant of frontotemporal dementia (bvFTD) and Alzheimer's disease (AD) in three stages: (i) pre-T0 (before the onset of the disease); (ii) T0 or manifested disease (from the onset to 5 years); (iii) T1 or advanced (from 5 years onwards). Six hundred seventy-four clinical records of patients with bvFTD and 1925 with AD, from 2006 to 2018, were studied. Symptoms have been extracted from Neuropsychiatric Inventory (NPI) and from a checklist of BPSD for all periods observed. In our population, BPSD affect up to 90% of all dementia subjects over the course of their illness. BPSD profiles of the two dementia groups were similar but not identical. The most represented symptoms were apathy, irritability/affective lability, and agitation/aggression. Considering the order of appearance of neuropsychiatric symptoms in AD and bvFTD, mood disorders (depression, anxiety) come first than the other BPSD, with the same prevalence. This means that they could be an important “red flag” in detection of dementia. With the increase of disease severity, aberrant motor behavior and wandering were significantly more present in both groups. Differences between BPSD in AD and bvFTD resulted only in prevalence: Systematically, in bvFTD, all the symptoms were more represented than in AD, except for hallucinations, depression, anxiety, and irritability. Given their high frequency and impact on management and overall health care resources, BPSD should not be underestimated and considered as an additional important diagnostic and therapeutic target both in patients with AD and bvFTD.
Radiomics Analysis of Brain [18 F]FDG PET/CT to Predict Alzheimer’s Disease in Patients with Amyloid PET Positivity: A Preliminary Report on the Application of SPM Cortical Segmentation, Pyradiomics and Machine-Learning Analysis Pierpaolo Alongi, Riccardo Laudicella, Francesco Panasiti, Alessandro Stefano, Albert Comelli, Paolo Giaccone, Annachiara Arnone, Fabio Minutoli, Natale Quartuccio, Chiara Cupidi, Gaspare Arnone, Tommaso Piccoli, Luigi Maria Edoardo Grimaldi, Sergio Baldari, Giorgio Russo Diagnostics, 2022 Background: Early in-vivo diagnosis of Alzheimer’s disease (AD) is crucial for accurate management of patients, in particular, to select subjects with mild cognitive impairment (MCI) that may evolve into AD, and to define other types of MCI non-AD patients. The application of artificial intelligence to functional brain [18F]fluorodeoxyglucose (FDG) positron emission tomography (PET)/computed tomography(CT) aiming to increase diagnostic accuracy in the diagnosis of AD is still undetermined. In this field, we propose a radiomics analysis on advanced imaging segmentation method Statistical Parametric Mapping (SPM)-based completed with a Machine-Learning (ML) application to predict the diagnosis of AD, also by comparing the results with following Amyloid-PET and final clinical diagnosis. Methods: From July 2016 to September 2017, 43 patients underwent PET/CT scans with FDG and Florbetaben brain PET/CT and at least 24 months of clinical/instrumental follow-up. Patients were retrospectively evaluated by a multidisciplinary team (MDT = Neurologist, Psychologist, Radiologist, Nuclear Medicine Physician, Laboratory Clinic) at the G. Giglio Institute in Cefalù, Italy. Starting from the cerebral segmentations applied by SPM on the main cortical macro-areas of each patient, Pyradiomics was used for the feature extraction process; subsequently, an innovative descriptive-inferential mixed sequential approach and a machine learning algorithm (i.e., discriminant analysis) were used to obtain the best diagnostic performance in prediction of amyloid deposition and the final diagnosis of AD. Results: A total of 11 radiomics features significantly predictive of cortical beta-amyloid deposition (n = 6) and AD (n = 5) were found. Among them, two higher-order features (original_glcm_Idmn and original_glcm_Id), extracted from the limbic enthorinal cortical area (ROI-1) in the FDG-PET/CT images, predicted the positivity of Amyloid-PET/CT scans with maximum values of sensitivity (SS), specificity (SP), precision (PR) and accuracy (AC) of 84.92%, 75.13%, 73.75%, and 79.56%, respectively. Conversely, for the prediction of the clinical-instrumental final diagnosis of AD, the best performance was obtained by two higher-order features (original_glcm_MCC and original_glcm_Maximum Probability) extracted from ROI-2 (frontal cortex) with a SS, SP, PR and AC of 75.16%, 80.50%, 77.68%, and 78.05%, respectively, and by one higher-order feature (original_glcm_Idmn) extracted from ROI-3 (medial Temporal cortex; SS = 80.88%, SP = 76.85%, PR = 75.63%, AC = 78.76%. Conclusions: The results obtained in this preliminary study support advanced segmentation of cortical areas typically involved in early AD on FDG PET/CT brain images, and radiomics analysis for the identification of specific high-order features to predict Amyloid deposition and final diagnosis of AD.
Clinical Perception and Treatment Options for Behavioral and Psychological Symptoms of Dementia (BPSD) in Italy F. D’Antonio, L. Tremolizzo, M. Zuffi, S. Pomati, E. Farina, Margherita Serena Arighi Francesca Federica Amalia Giuseppe A Alberoni Amici Andrea Baglio Barocco Cecilia Bruni Frontiers in Psychiatry, 2022 Background Behavioral and psychological symptoms of dementia (BPSD) have a high prevalence, and their presence is associated with a severe impact in terms of social costs. However, dedicated clinical tools or biomarkers to detect these symptoms are lacking. Thus, BPSD management in clinical settings is challenging. The aim of this study was to investigate the perception and the treatment strategies for BPSD in Italian centers working in the dementia field. Methods A multicenter, national survey was developed by BPSD Study Group of the Italian Neurological Society for Dementia (SINDEM). The survey consisted of a semi-structured questionnaire that was e-mailed to SINDEM members, dementia centers part of the national network of memory clinics (Centers for Cognitive Deterioration and Dementia [CDCD]), and clinicians working in dementia care settings. The questions were focused on (1) perceived global frequency and relevance of BPSD; (2) tools used to assess BPSD; (3) pharmacological treatment for psychosis, apathy, agitation, aggression, depression, anxiety, sleep, and nutrition disturbances; (4) non-pharmacological treatments; (5) drugs side effects. Results One-hundred and thirty-six clinicians participated in this study. Seventy-nine participants worked in a CDCD and 57 in other settings. The perceived frequency of BPSD was 74%. BPSD are detected by means of a clinical assessment for 96.3% or a caregiver interview for 97%. For psychosis treatment the first choice was atypical antipsychotics (83.3%), followed by typical antipsychotic (8.9%) and antidepressants (4.8%). For agitation, atypical antipsychotics were the first-choice treatment in 64% of cases and antidepressants in 16.1%. For aggression, the most used drugs were atypical antipsychotics (82.9%). For anxiety, 55.2% use antidepressants, 17.9% use atypical antipsychotics, and 16.9% use benzodiazepines. Interestingly, most of the centers apply non-pharmacological treatments for BPSD. Some differences emerged comparing the responses from CDCD and other care settings. Conclusion The survey results revealed many differences in BPSD perception, treatment options, and observed side effect according to the clinical setting. This variability can be explained by the absence of clear guidelines, by differences in patients' characteristics, and by clinical practice based on subjective experience. These results suggest that producing guidelines for the pharmacological treatment of BPSD is a major need.
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration Mathieu Barbier, Agnès Camuzat, Khalid El Hachimi, Justine Guegan, Daisy Rinaldi, Serena Lattante, Marion Houot, Raquel Sánchez-Valle, Mario Sabatelli, Anna Antonell, Laura Molina-Porcel, Fabienne Clot, Philippe Couratier, Emma van der Ende, Julie van der Zee, Claudia Manzoni, William Camu, Cécile Cazeneuve, François Sellal, Mira Didic, Véronique Golfier, Florence Pasquier, Charles Duyckaerts, Giacomina Rossi, Amalia C Bruni, Victoria Alvarez, Estrella Gómez-Tortosa, Alexandre de Mendonça, Caroline Graff, Mario Masellis, Benedetta Nacmias, Badreddine Mohand Oumoussa, Ludmila Jornea, Sylvie Forlani, Viviana Van Deerlin, Jonathan D Rohrer, Ellen Gelpi, Rosa Rademakers, John Van Swieten, Eric Le Guern, Christine Van Broeckhoven, Raffaele Ferrari, Emmanuelle Génin, Alexis Brice, Isabelle Le Ber, and Brain, 2021 The G4C2-repeat expansion in C9orf72 is the most common cause of frontotemporal dementia and of amyotrophic lateral sclerosis. The variability of age at onset and phenotypic presentations is a hallmark of C9orf72 disease. In this study, we aimed to identify modifying factors of disease onset in C9orf72 carriers using a family-based approach, in pairs of C9orf72 carrier relatives with concordant or discordant age at onset. Linkage and association analyses provided converging evidence for a locus on chromosome Xq27.3. The minor allele A of rs1009776 was associated with an earlier onset (P = 1 × 10−5). The association with onset of dementia was replicated in an independent cohort of unrelated C9orf72 patients (P = 0.009). The protective major allele delayed the onset of dementia from 5 to 13 years on average depending on the cohort considered. The same trend was observed in an independent cohort of C9orf72 patients with extreme deviation of the age at onset (P = 0.055). No association of rs1009776 was detected in GRN patients, suggesting that the effect of rs1009776 was restricted to the onset of dementia due to C9orf72. The minor allele A is associated with a higher SLITRK2 expression based on both expression quantitative trait loci (eQTL) databases and in-house expression studies performed on C9orf72 brain tissues. SLITRK2 encodes for a post-synaptic adhesion protein. We further show that synaptic vesicle glycoprotein 2 and synaptophysin, two synaptic vesicle proteins, were decreased in frontal cortex of C9orf72 patients carrying the minor allele. Upregulation of SLITRK2 might be associated with synaptic dysfunctions and drives adverse effects in C9orf72 patients that could be modulated in those carrying the protective allele. How the modulation of SLITRK2 expression affects synaptic functions and influences the disease onset of dementia in C9orf72 carriers will require further investigations. In summary, this study describes an original approach to detect modifier genes in rare diseases and reinforces rising links between C9orf72 and synaptic dysfunctions that might directly influence the occurrence of first symptoms.
Being the Family Caregiver of a Patient With Dementia During the Coronavirus Disease 2019 Lockdown Milena Zucca, Valeria Isella, Raffaele Di Lorenzo, Camillo Marra, Annachiara Cagnin, Chiara Cupidi, Laura Bonanni, Valentina Laganà, Elisa Rubino, Nicola Vanacore, Federica Agosta, Paolo Caffarra, Renato Sambati, Davide Quaranta, Valeria Guglielmi, Ildebrando M. Appollonio, Giancarlo Logroscino, Massimo Filippi, Gioacchino Tedeschi, Carlo Ferrarese, Innocenzo Rainero, Amalia C. Bruni, and Frontiers in Aging Neuroscience, 2021
Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes Lianne M. Reus, Bogdan Pasaniuc, Danielle Posthuma, Toni Boltz, Yolande A.L. Pijnenburg, Roel A. Ophoff, Raffaele Ferrari, Dena G. Hernandez, Michael A. Nalls, Jonathan D. Rohrer, Adaikalavan Ramasamy, John B.J. Kwok, Carol Dobson-Stone, William S. Brooks, Peter R. Schofield, Glenda M. Halliday, John R. Hodges, Olivier Piguet, Lauren Bartley, Elizabeth Thompson, Isabel Hernández, Agustín Ruiz, Mercè Boada, Barbara Borroni, Alessandro Padovani, Carlos Cruchaga, Nigel J. Cairns, Luisa Benussi, Giuliano Binetti, Roberta Ghidoni, Gianluigi Forloni, Daniela Galimberti, Chiara Fenoglio, Maria Serpente, Elio Scarpini, Jordi Clarimón, Alberto Lleó, Rafael Blesa, Maria Landqvist Waldö, Karin Nilsson, Christer Nilsson, Ian R.A. Mackenzie, Ging-Yuek R. Hsiung, David M.A. Mann, Jordan Grafman, Christopher M. Morris, Johannes Attems, Timothy D. Griffiths, Ian G. McKeith, Alan J. Thomas, Pietro Pietrini, Edward D. Huey, Eric M. Wassermann, Atik Baborie, Evelyn Jaros, Michael C. Tierney, Pau Pastor, Cristina Razquin, Sara Ortega-Cubero, Elena Alonso, Robert Perneczky, Janine Diehl-Schmid, Panagiotis Alexopoulos, Alexander Kurz, Innocenzo Rainero, Elisa Rubino, Lorenzo Pinessi, Ekaterina Rogaeva, Peter St. George-Hyslop, Giacomina Rossi, Fabrizio Tagliavini, Giorgio Giaccone, James B. Rowe, Johannes C.M. Schlachetzki, James Uphill, John Collinge, Simon Mead, Adrian Danek, Vivianna M. Van Deerlin, Murray Grossman, John Q. Trojanowski, Julie van der Zee, Christine Van Broeckhoven, Stefano F. Cappa, Isabelle Le Ber, Didier Hannequin, Véronique Golfier, Martine Vercelletto, Alexis Brice, Benedetta Nacmias, Sandro Sorbi, Silvia Bagnoli, Irene Piaceri, Jørgen E. Nielsen, Lena E. Hjermind, Matthias Riemenschneider, Manuel Mayhaus, Bernd Ibach, Gilles Gasparoni, Sabrina Pichler, Wei Gu, Martin N. Rossor, Nick C. Fox, Jason D. Warren, Maria Grazia Spillantini, Huw R. Morris, Patrizia Rizzu, Peter Heutink, Julie S. Snowden, Sara Rollinson, Anna Richardson, Alexander Gerhard, Amalia C. Bruni, Raffaele Maletta, Francesca Frangipane, Chiara Cupidi, Livia Bernardi, Maria Anfossi, Maura Gallo, Maria Elena Conidi, Nicoletta Smirne, Rosa Rademakers, Matt Baker, Dennis W. Dickson, Neill R. Graff-Radford, Ronald C. Petersen, David Knopman, Keith A. Josephs, Bradley F. Boeve, Joseph E. Parisi, William W. Seeley, Bruce L. Miller, Anna M. Karydas, Howard Rosen, John C. van Swieten, Elise G.P. Dopper, Harro Seelaar, Yolande A.L. Pijnenburg, Philip Scheltens, Giancarlo Logroscino, Rosa Capozzo, Valeria Novelli, Annibale A. Puca, Massimo Franceschi, Alfredo Postiglione, Graziella Milan, Paolo Sorrentino, Mark Kristiansen, Huei-Hsin Chiang, Caroline Graff, Florence Pasquier, Adeline Rollin, Vincent Deramecourt, Florence Lebert, Dimitrios Kapogiannis, Luigi Ferrucci, Stuart Pickering-Brown, Andrew B. Singleton, John Hardy, Parastoo Momeni Biological Psychiatry, 2021
The Impact of COVID-19 Quarantine on Patients With Dementia and Family Caregivers: A Nation-Wide Survey Innocenzo Rainero, Amalia C. Bruni, Camillo Marra, Annachiara Cagnin, Laura Bonanni, Chiara Cupidi, Valentina Laganà, Elisa Rubino, Alessandro Vacca, Raffaele Di Lorenzo, Paolo Provero, Valeria Isella, Nicola Vanacore, Federica Agosta, Ildebrando Appollonio, Paolo Caffarra, Cinzia Bussè, Renato Sambati, Davide Quaranta, Valeria Guglielmi, Giancarlo Logroscino, Massimo Filippi, Gioacchino Tedeschi, Carlo Ferrarese, and Frontiers in Aging Neuroscience, 2021
C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts Beatrice Costa, Claudia Manzoni, Manuel Bernal-Quiros, Demis A. Kia, Miquel Aguilar, Ignacio Alvarez, Victoria Alvarez, Ole Andreassen, Maria Anfossi, Silvia Bagnoli, Luisa Benussi, Livia Bernardi, Giuliano Binetti, Daniel Blackburn, Mercè Boada, Barbara Borroni, Lucy Bowns, Geir Bråthen, Amalia C. Bruni, Huei-Hsin Chiang, Jordi Clarimon, Shuna Colville, Maria E. Conidi, Tom E. Cope, Carlos Cruchaga, Chiara Cupidi, Maria Elena Di Battista, Janine Diehl-Schmid, Monica Diez-Fairen, Oriol Dols-Icardo, Elisabetta Durante, Dušan Flisar, Francesca Frangipane, Daniela Galimberti, Maura Gallo, Maurizio Gallucci, Roberta Ghidoni, Caroline Graff, Jordan H. Grafman, Murray Grossman, John Hardy, Isabel Hernández, Guy J.T. Holloway, Edward D. Huey, Ignacio Illán-Gala, Anna Karydas, Behzad Khoshnood, Milica G. Kramberger, Mark Kristiansen, Patrick A. Lewis, Alberto Lleó, Gaganjit K. Madhan, Raffaele Maletta, Aleš Maver, Manuel Menendez-Gonzalez, Graziella Milan, Bruce Miller, Merel O. Mol, Parastoo Momeni, Sonia Moreno-Grau, Chris M. Morris, Benedetta Nacmias, Christer Nilsson, Valeria Novelli, Linn Öijerstedt, Alessandro Padovani, Suvankar Pal, Yasmin Panchbhaya, Pau Pastor, Borut Peterlin, Irene Piaceri, Stuart Pickering-Brown, Yolande A.L. Pijnenburg, Annibale A. Puca, Innocenzo Rainero, Antonella Rendina, Anna M.T. Richardson, Ekaterina Rogaeva, Boris Rogelj, Sara Rollinson, Giacomina Rossi, Carola Rossmeier, James B. Rowe, Elisa Rubino, Agustín Ruiz, Raquel Sanchez-Valle, Sigrid B. Sando, Alexander F. Santillo, Jennifer Saxon, Elio Scarpini, Maria Serpente, Nicoletta Smirne, Sandro Sorbi, EunRan Suh, Fabrizio Tagliavini, Jennifer C. Thompson, John Q. Trojanowski, Vivianna M. Van Deerlin, Julie Van der Zee, Christine Van Broeckhoven, Jeroen van Rooij, John C. Van Swieten, Arianna Veronesi, Emilia Vitale, Maria L. Waldö, Cathy Woodward, Jennifer Yokoyama, Valentina Escott-Price, James M. Polke, Raffaele Ferrari, and Neurology, 2020
Behavioral and psychological effects of coronavirus disease-19 quarantine in patients with dementia Annachiara Cagnin, Raffaele Di Lorenzo, Camillo Marra, Laura Bonanni, Chiara Cupidi, Valentina Laganà, Elisa Rubino, Alessandro Vacca, Paolo Provero, Valeria Isella, Nicola Vanacore, Federica Agosta, Ildebrando Appollonio, Paolo Caffarra, Ilaria Pettenuzzo, Renato Sambati, Davide Quaranta, Valeria Guglielmi, Giancarlo Logroscino, Massimo Filippi, Gioacchino Tedeschi, Carlo Ferrarese, Innocenzo Rainero, Amalia C. Bruni, and Frontiers in Psychiatry, 2020
Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (Acta Neuropathologica, (2019), 138, 2, (237-250), 10.1007/s00401-019-02026-8) Sven J. van der Lee, , Olivia J. Conway, Iris Jansen, Minerva M. Carrasquillo, Luca Kleineidam, Erik van den Akker, Isabel Hernández, Kristel R. van Eijk, Najada Stringa, Jason A. Chen, Anna Zettergren, Till F. M. Andlauer, Monica Diez-Fairen, Javier Simon-Sanchez, Alberto Lleó, Henrik Zetterberg, Marianne Nygaard, Cornelis Blauwendraat, Jeanne E. Savage, Jonas Mengel-From, Sonia Moreno-Grau, Michael Wagner, Juan Fortea, Michael J. Keogh, Kaj Blennow, Ingmar Skoog, Manuel A. Friese, Olga Pletnikova, Miren Zulaica, Carmen Lage, Itziar de Rojas, Steffi Riedel-Heller, Ignacio Illán-Gala, Wei Wei, Bernard Jeune, Adelina Orellana, Florian Then Bergh, Xue Wang, Marc Hulsman, Nina Beker, Niccolo Tesi, Christopher M. Morris, Begoña Indakoetxea, Lyduine E. Collij, Martin Scherer, Estrella Morenas-Rodríguez, James W. Ironside, Bart N. M. van Berckel, Daniel Alcolea, Heinz Wiendl, Samantha L. Strickland, Pau Pastor, Eloy Rodríguez Rodríguez, Bradley F. Boeve, Ronald C. Petersen, Tanis J. Ferman, Jay A. van Gerpen, Marcel J. T. Reinders, Ryan J. Uitti, Lluís Tárraga, Wolfgang Maier, Oriol Dols-Icardo, Amit Kawalia, Maria Carolina Dalmasso, Mercè Boada, Uwe K. Zettl, Natasja M. van Schoor, Marian Beekman, Mariet Allen, Eliezer Masliah, Adolfo López de Munain, Alexander Pantelyat, Zbigniew K. Wszolek, Owen A. Ross, Dennis W. Dickson, Neill R. Graff-Radford, David Knopman, Rosa Rademakers, Afina W. Lemstra, Yolande A. L. Pijnenburg, Philip Scheltens, Thomas Gasser, Patrick F Chinnery, Bernhard Hemmer, Martijn A. Huisman, Juan Troncoso, Fermin Moreno, Ellen A. Nohr, Thorkild I. A. Sørensen, Peter Heutink, Pascual Sánchez-Juan, Danielle Posthuma, Jordi Clarimón, Kaare Christensen, Nilüfer Ertekin-Taner, Sonja W. Scholz, Alfredo Ramirez, Agustín Ruiz, Eline Slagboom, Wiesje M. van der Flier, Henne Holstege, , , , , , and Acta Neuropathologica, 2020
Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2) Brian W. Kunkle, , Benjamin Grenier-Boley, Rebecca Sims, Joshua C. Bis, Vincent Damotte, Adam C. Naj, Anne Boland, Maria Vronskaya, Sven J. van der Lee, Alexandre Amlie-Wolf, Céline Bellenguez, Aura Frizatti, Vincent Chouraki, Eden R. Martin, Kristel Sleegers, Nandini Badarinarayan, Johanna Jakobsdottir, Kara L. Hamilton-Nelson, Sonia Moreno-Grau, Robert Olaso, Rachel Raybould, Yuning Chen, Amanda B. Kuzma, Mikko Hiltunen, Taniesha Morgan, Shahzad Ahmad, Badri N. Vardarajan, Jacques Epelbaum, Per Hoffmann, Merce Boada, Gary W. Beecham, Jean-Guillaume Garnier, Denise Harold, Annette L. Fitzpatrick, Otto Valladares, Marie-Laure Moutet, Amy Gerrish, Albert V. Smith, Liming Qu, Delphine Bacq, Nicola Denning, Xueqiu Jian, Yi Zhao, Maria Del Zompo, Nick C. Fox, Seung-Hoan Choi, Ignacio Mateo, Joseph T. Hughes, Hieab H. Adams, John Malamon, Florentino Sanchez-Garcia, Yogen Patel, Jennifer A. Brody, Beth A. Dombroski, Maria Candida Deniz Naranjo, Makrina Daniilidou, Gudny Eiriksdottir, Shubhabrata Mukherjee, David Wallon, James Uphill, Thor Aspelund, Laura B. Cantwell, Fabienne Garzia, Daniela Galimberti, Edith Hofer, Mariusz Butkiewicz, Bertrand Fin, Elio Scarpini, Chloe Sarnowski, Will S. Bush, Stéphane Meslage, Johannes Kornhuber, Charles C. White, Yuenjoo Song, Robert C. Barber, Sebastiaan Engelborghs, Sabrina Sordon, Dina Voijnovic, Perrie M. Adams, Rik Vandenberghe, Manuel Mayhaus, L. Adrienne Cupples, Marilyn S. Albert, Peter P. De Deyn, Wei Gu, Jayanadra J. Himali, Duane Beekly, Alessio Squassina, Annette M. Hartmann, Adelina Orellana, Deborah Blacker, Eloy Rodriguez-Rodriguez, Simon Lovestone, Melissa E. Garcia, Rachelle S. Doody, Carmen Munoz-Fernadez, Rebecca Sussams, Honghuang Lin, Thomas J. Fairchild, Yolanda A. Benito, Clive Holmes, Hata Karamujić-Čomić, Matthew P. Frosch, Hakan Thonberg, Wolfgang Maier, Gennady Roshchupkin, Bernardino Ghetti, Vilmantas Giedraitis, Amit Kawalia, Shuo Li, Ryan M. Huebinger, Lena Kilander, Susanne Moebus, Isabel Hernández, M. Ilyas Kamboh, RoseMarie Brundin, James Turton, Qiong Yang, Mindy J. Katz, Letizia Concari, Jenny Lord, Alexa S. Beiser, C. Dirk Keene, Seppo Helisalmi, Iwona Kloszewska, Walter A. Kukull, Anne Maria Koivisto, Aoibhinn Lynch, Lluís Tarraga, Eric B. Larson, Annakaisa Haapasalo, Brian Lawlor, Thomas H. Mosley, Richard B. Lipton, Vincenzo Solfrizzi, Michael Gill, W. T. Longstreth, Thomas J. Montine, Vincenza Frisardi, Monica Diez-Fairen, Fernando Rivadeneira, Ronald C. Petersen, Vincent Deramecourt, Ignacio Alvarez, Francesca Salani, Antonio Ciaramella, Eric Boerwinkle, Eric M. Reiman, Nathalie Fievet, Jerome I. Rotter, Joan S. Reisch, Olivier Hanon, Chiara Cupidi, A. G. Andre Uitterlinden, Donald R. Royall, Carole Dufouil, Raffaele Giovanni Maletta, Itziar de Rojas, Mary Sano, Alexis Brice, Roberta Cecchetti, Peter St George-Hyslop, Karen Ritchie, Magda Tsolaki, Debby W. Tsuang, Bruno Dubois, David Craig, Chuang-Kuo Wu, Hilkka Soininen, Despoina Avramidou, Roger L. Albin, Laura Fratiglioni, Antonia Germanou, Liana G. Apostolova, Lina Keller, Maria Koutroumani, Steven E. Arnold, Francesco Panza, Olymbia Gkatzima, Sanjay Asthana, Didier Hannequin, Patrice Whitehead, Craig S. Atwood, Paolo Caffarra, Harald Hampel, Inés Quintela, Ángel Carracedo, Lars Lannfelt, David C. Rubinsztein, Lisa L. Barnes, Florence Pasquier, Lutz Frölich, Sandra Barral, Bernadette McGuinness, Thomas G. Beach, Janet A. Johnston, James T. Becker, Peter Passmore, Eileen H. Bigio, Jonathan M. Schott, Thomas D. Bird, Jason D. Warren, Bradley F. Boeve, Michelle K. Lupton, James D. Bowen, Petra Proitsi, Adam Boxer, John F. Powell, James R. Burke, John S. K. Kauwe, Jeffrey M. Burns, Michelangelo Mancuso, Joseph D. Buxbaum, Ubaldo Bonuccelli, Nigel J. Cairns, Andrew McQuillin, Chuanhai Cao, Gill Livingston, Chris S. Carlson, Nicholas J. Bass, Cynthia M. Carlsson, John Hardy, Regina M. Carney, Jose Bras, Minerva M. Carrasquillo, Rita Guerreiro, Mariet Allen, Helena C. Chui, Elizabeth Fisher, Carlo Masullo, Elizabeth A. Crocco, Charles DeCarli, Gina Bisceglio, Malcolm Dick, Li Ma, Ranjan Duara, Neill R. Graff-Radford, Denis A. Evans, Angela Hodges, Kelley M. Faber, Martin Scherer, Kenneth B. Fallon, Matthias Riemenschneider, David W. Fardo, Reinhard Heun, Martin R. Farlow, Heike Kölsch, Steven Ferris, Markus Leber, Tatiana M. Foroud, Isabella Heuser, Douglas R. Galasko, Ina Giegling, Marla Gearing, Michael Hüll, Daniel H. Geschwind, John R. Gilbert, John Morris, Robert C. Green, Kevin Mayo, John H. Growdon, Thomas Feulner, Ronald L. Hamilton, Lindy E. Harrell, Dmitriy Drichel, Lawrence S. Honig, Thomas D. Cushion, Matthew J. Huentelman, Paul Hollingworth, Christine M. Hulette, Bradley T. Hyman, Rachel Marshall, Gail P. Jarvik, Alun Meggy, Erin Abner, Georgina E. Menzies, Lee-Way Jin, Ganna Leonenko, Luis M. Real, Gyungah R. Jun, Clinton T. Baldwin, Detelina Grozeva, Anna Karydas, Giancarlo Russo, Jeffrey A. Kaye, Ronald Kim, Frank Jessen, Neil W. Kowall, Bruno Vellas, Joel H. Kramer, Emma Vardy, Frank M. LaFerla, Karl-Heinz Jöckel, James J. Lah, Martin Dichgans, James B. Leverenz, David Mann, Allan I. Levey, Stuart Pickering-Brown, Andrew P. Lieberman, Norman Klopp, Kathryn L. Lunetta, H-Erich Wichmann, Constantine G. Lyketsos, Kevin Morgan, Daniel C. Marson, Kristelle Brown, Frank Martiniuk, Christopher Medway, Deborah C. Mash, Markus M. Nöthen, Eliezer Masliah, Nigel M. Hooper, Wayne C. McCormick, Antonio Daniele, Susan M. McCurry, Anthony Bayer, Andrew N. McDavid, John Gallacher, Ann C. McKee, Hendrik van den Bussche, Marsel Mesulam, Carol Brayne, Bruce L. Miller, Steffi Riedel-Heller, Carol A. Miller, Joshua W. Miller, Ammar Al-Chalabi, John C. Morris, Christopher E. Shaw, Amanda J. Myers, Jens Wiltfang, Sid O’Bryant, John M. Olichney, Victoria Alvarez, Joseph E. Parisi, Andrew B. Singleton, Henry L. Paulson, John Collinge, William R. Perry, Simon Mead, Elaine Peskind, David H. Cribbs, Martin Rossor, Aimee Pierce, Natalie S. Ryan, Wayne W. Poon, Benedetta Nacmias, Huntington Potter, Sandro Sorbi, Joseph F. Quinn, Eleonora Sacchinelli, Ashok Raj, Gianfranco Spalletta, Murray Raskind, Carlo Caltagirone, Paola Bossù, Maria Donata Orfei, Barry Reisberg, Robert Clarke, Christiane Reitz, A David Smith, John M. Ringman, Donald Warden, Erik D. Roberson, Gordon Wilcock, Ekaterina Rogaeva, Amalia Cecilia Bruni, Howard J. Rosen, Maura Gallo, Roger N. Rosenberg, Yoav Ben-Shlomo, Mark A. Sager, Patrizia Mecocci, Andrew J. Saykin, Pau Pastor, Michael L. Cuccaro, Jeffery M. Vance, Julie A. Schneider, Lori S. Schneider, Susan Slifer, William W. Seeley, Amanda G. Smith, Joshua A. Sonnen, Salvatore Spina, Robert A. Stern, Russell H. Swerdlow, Mitchell Tang, Rudolph E. Tanzi, John Q. Trojanowski, Juan C. Troncoso, Vivianna M. Van Deerlin, Linda J. Van Eldik, Harry V. Vinters, Jean Paul Vonsattel, Sandra Weintraub, Kathleen A. Welsh-Bohmer, Kirk C. Wilhelmsen, Jennifer Williamson, Thomas S. Wingo, Randall L. Woltjer, Clinton B. Wright, Chang-En Yu, Lei Yu, Yasaman Saba, Alberto Pilotto, Maria J. Bullido, Oliver Peters, Paul K. Crane, David Bennett, Paola Bosco, Eliecer Coto, Virginia Boccardi, Phil L. De Jager, Alberto Lleo, Nick Warner, Oscar L. Lopez, Martin Ingelsson, Panagiotis Deloukas, Carlos Cruchaga, Caroline Graff, Rhian Gwilliam, Myriam Fornage, Alison M. Goate, Pascual Sanchez-Juan, Patrick G. Kehoe, Najaf Amin, Nilifur Ertekin-Taner, Claudine Berr, Stéphanie Debette, Seth Love, Lenore J. Launer, Steven G. Younkin, Jean-Francois Dartigues, Chris Corcoran, M. Arfan Ikram, Dennis W. Dickson, Gael Nicolas, Dominique Campion, JoAnn Tschanz, Helena Schmidt, Hakon Hakonarson, Jordi Clarimon, Ron Munger, Reinhold Schmidt, Lindsay A. Farrer, Christine Van Broeckhoven, Michael C. O’Donovan, Anita L. DeStefano, Lesley Jones, Jonathan L. Haines, Jean-Francois Deleuze, Michael J. Owen, Vilmundur Gudnason, Richard Mayeux, Valentina Escott-Price, Bruce M. Psaty, Alfredo Ramirez, Li-San Wang, Agustin Ruiz, Cornelia M. van Duijn, Peter A. Holmans, Sudha Seshadri, Julie Williams, Phillippe Amouyel, Gerard D. Schellenberg, Jean-Charles Lambert, Margaret A. Pericak-Vance, , , and Nature Genetics, 2019
Refining the spectrum of neuronal intranuclear inclusion disease: A case report Chiara Cupidi, Anke A Dijkstra, Shami Melhem, Meike W Vernooij, Lies-Anne Severijnen, Renate K Hukema, Annemieke J M Rozemuller, Manuela Neumann, John C van Swieten, Harro Seelaar Journal of Neuropathology and Experimental Neurology, 2019
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing Brian W. Kunkle, , Benjamin Grenier-Boley, Rebecca Sims, Joshua C. Bis, Vincent Damotte, Adam C. Naj, Anne Boland, Maria Vronskaya, Sven J. van der Lee, Alexandre Amlie-Wolf, Céline Bellenguez, Aura Frizatti, Vincent Chouraki, Eden R. Martin, Kristel Sleegers, Nandini Badarinarayan, Johanna Jakobsdottir, Kara L. Hamilton-Nelson, Sonia Moreno-Grau, Robert Olaso, Rachel Raybould, Yuning Chen, Amanda B. Kuzma, Mikko Hiltunen, Taniesha Morgan, Shahzad Ahmad, Badri N. Vardarajan, Jacques Epelbaum, Per Hoffmann, Merce Boada, Gary W. Beecham, Jean-Guillaume Garnier, Denise Harold, Annette L. Fitzpatrick, Otto Valladares, Marie-Laure Moutet, Amy Gerrish, Albert V. Smith, Liming Qu, Delphine Bacq, Nicola Denning, Xueqiu Jian, Yi Zhao, Maria Del Zompo, Nick C. Fox, Seung-Hoan Choi, Ignacio Mateo, Joseph T. Hughes, Hieab H. Adams, John Malamon, Florentino Sanchez-Garcia, Yogen Patel, Jennifer A. Brody, Beth A. Dombroski, Maria Candida Deniz Naranjo, Makrina Daniilidou, Gudny Eiriksdottir, Shubhabrata Mukherjee, David Wallon, James Uphill, Thor Aspelund, Laura B. Cantwell, Fabienne Garzia, Daniela Galimberti, Edith Hofer, Mariusz Butkiewicz, Bertrand Fin, Elio Scarpini, Chloe Sarnowski, Will S. Bush, Stéphane Meslage, Johannes Kornhuber, Charles C. White, Yuenjoo Song, Robert C. Barber, Sebastiaan Engelborghs, Sabrina Sordon, Dina Voijnovic, Perrie M. Adams, Rik Vandenberghe, Manuel Mayhaus, L. Adrienne Cupples, Marilyn S. Albert, Peter P. De Deyn, Wei Gu, Jayanadra J. Himali, Duane Beekly, Alessio Squassina, Annette M. Hartmann, Adelina Orellana, Deborah Blacker, Eloy Rodriguez-Rodriguez, Simon Lovestone, Melissa E. Garcia, Rachelle S. Doody, Carmen Munoz-Fernadez, Rebecca Sussams, Honghuang Lin, Thomas J. Fairchild, Yolanda A. Benito, Clive Holmes, Hata Karamujić-Čomić, Matthew P. 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