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Assessing the impact of falls on neuropsychiatric symptoms in patients with neurodegenerative disease

Alzheimer's & Dementia 2023年第S18期19卷

作者： Goldin Joghataie Allison Ann Dilliott Andrew R Frank Anthony E Lang Angela C Roberts Angela Troyer Brian Levine Stephen R. Arnott Brian Tan Corinne E. Fischer Connie Marras Donna Kwan Douglas Munoz David F. Tang-Wai Elizabeth Finger Ekaterina Rogaeva Joseph B Orange Joel Ramirez Kelly M Sunderland Lorne Zinman Malcolm Binns Michael Borrie Mario Masellis Morris Freedman Manuel Montero-Odasso Miracle Ozzoude Robert Bartha Richard H. Swartz Agessandro Abrahao Bill McIlroy Michael J. Strong Carmela Tartaglia University of Toronto Toronto ON Canada University Health Network Toronto ON Canada The Tanz Centre for Research in Neurodegenerative Diseases Toronto ON Canada The Krembil Brain Institute at Toronto Western Hospital Toronto ON Canada Institute of Medical Science Temerty Faculty of Medicine Toronto ON Canada Western University London ON Canada University of Ottawa Ottawa ON Canada Krembil Brain Institute Toronto ON Canada Movement Disorder Clinic Toronto Western Hospital University Health Network Toronto ON Canada Tanz Centre for Research in Neurodegenerative Diseases University of Toronto Toronto ON Canada The Edmond J. Safra Program in Parkinson’s Disease and Morton and Gloria Shulman Movement Disorders Clinic Toronto ON Canada Canadian Centre for Activity and Aging London ON Canada Ontario Neurodegenerative Disease Research Initiative Toronto ON Canada Baycrest Health Sciences Centre Toronto ON Canada Rotman Research Institute Toronto ON Canada Baycrest Hospital Toronto ON Canada Sunnybrook Health Sciences Centre Toronto ON Canada St. Michael’s Hospital Toronto ON Canada Keenan Research Centre for Biomedical Science St. Michael’s Hospital Toronto ON Canada Faculty of Medicine Department of Psychiatry University of Toronto Toronto ON Canada Institute of Medical Sciences University of Toronto Toronto ON Canada Keenan Research Centre for Biomedical Science the Li Ka Shing Knowledge Institute St. Michael’s Hospital Toronto ON Canada Morton and Gloria Shulman Movement Disorders Centre and the Edmond J Safra Program in Parkinson’s disease Toronto ON Canada Queens University Kingston ON Canada Queen’s University Kingston ON Canada Rotman Research Institute Baycrest Health Sciences Toronto ON Canada Temerty Faculty of Medicine University of Toronto Toronto ON Canada Edmond J Safra Program for Parkinson Disease and the Morton and Gloria Shulman Movement Disorder Clinic Toronto Western Hospital University Health Network Toron

Background Falls are the most common injury faced by older adults and those with neurodegenerative diseases. Falls can result in concussion/mild traumatic brain injury(mTBI). Concussions in older adults or those with ...

Background Falls are the most common injury faced by older adults and those with neurodegenerative diseases. Falls can result in concussion/mild traumatic brain injury(mTBI). Concussions in older adults or those with neurodegenerative disease can have a significant impact on behavior as post-concussion symptoms include neuropsychiatric issues. We hypothesized that there is a relationship between past fall and neuropsychiatric symptoms and neuropsychiatric symptom severity. Methods We used data on falls and Neuropsychiatric Inventory (NPI) from the Ontario Neurodegenerative Disease Research Initiative dataset for 480 individuals with neurodegenerative diseases (Alzheimer’s Disease, Parkinson’s Disease, Amyotrophic lateral sclerosis, frontotemporal dementia and vascular cognitive impairment). We used the Chi-squared and Mann-Whitney tests to compare frequency of NPI symptoms (anxiety, depression, irritability, disinhibition, apathy, delusions, hallucinations, agitation, euphoria, motor-disturbance, night-time behaviour, appetite), and total NPI severity and distress, respectively, between patients with and without falls in the past 12 months. Results Comparing patients with falls (n = 169; mean-age = 68.3±9; 36% F) to patients without falls (n = 311; mean-age = 68.7±7; 32% F), there was a significantly higher frequency of anxiety (Chi-squared test, X 2 (df = 1, N = 480) = 12.859, P-value = 0.0003); higher median anxiety severity (Mann-Whitney/Wilcoxon-test p-value = 0.0002); and higher median partner anxiety distress (Wilcox test p-value = 0.0006) in those who had had a previous fall compared to those who had not, even with multiple comparison correction. Depression, apathy, disinhibition, night-time behaviours, and eating/appetite changes and total NPI severity were significantly worse in those with previous falls but did not survive multiple comparison correction. Conclusion We found that anxiety frequency, severity and distress were much higher in patients with neu

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A head-to-head comparison of plasma phosphorylated tau assays in the real-world memory clinic

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Alzheimer's & Dementia 2022年第S6期18卷

作者： Marc Suárez-Calvet Nicholas J. Ashton Albert Puig-Pijoan Marta Milà-Alomà Aida Fernández-Lebrero Greta García-Escobar Fernándo González-Ortiz Przemyslaw Radoslaw Kac Wagner Scheeren Brum Andréa Lessa Benedet Juan Lantero Rodriguez Theresa A. Day Jeffrey L. Dage Jeroen Vanbrabant Erik Stoops Eugeen Vanmechelen Gallen Triana-Baltzer Setareh Moughadam Hartmuth C. Kolb Paula Ortiz-Romero Thomas K Karikari Carolina Minguillón Juan José Hernández Sánchez Irene Navalpotro-Gómez Oriol Grau-Rivera Rosa María Manero Víctor Puente-Periz Rafael de la Torre Jaume Roquer Henrik Zetterberg Kaj Blennow Hospital del Mar Medical Research Institute (IMIM) Barcelona Spain Servei de Neurologia Hospital del Mar Barcelona Spain Barcelonaβeta Brain Research Center (BBRC) Pasqual Maragall Foundation Barcelona Spain Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable (CIBERFES) Madrid Spain NIHR Biomedical Research Centre for Mental Health & Biomedical Research Unit for Dementia at South London & Maudsley NHS Foundation London United Kingdom Department of Psychiatry and Neurochemistry Institute of Neuroscience and Physiology The Sahlgrenska Academy University of Gothenburg Mölndal Sweden Wallenberg Centre for Molecular and Translational Medicine University of Gothenburg Gothenburg Sweden King’s College London Institute of Psychiatry Psychology & Neuroscience Maurice Wohl Clinical Neuroscience Institute London United Kingdom Department of Medicine Universitat Autònoma de Barcelona Barcelona Spain Universitat Pompeu Fabra Barcelona Spain Graduate Program in Biological Sciences: Biochemistry Universidade Federal do Rio Grande do Sul (UFRGS) Porto Alegre Brazil Department of Psychiatry and Neurochemistry Institute of Neuroscience and Physiology University of Gothenburg Mölndal Sweden Institute of Neuroscience & Physiology Department of Psychiatry & Neurochemistry The Sahlgrenska Academy University of Gothenburg Mölndal Sweden Lilly Research Laboratories Eli Lilly and Company Indianapolis IN USA Stark Neurosciences Research Institute Indiana University School of Medicine Indianapolis IN USA Eli Lilly and Company Indianapolis IN USA ADx NeuroSciences NV Technologiepark 94 Ghent 9052 Belgium ADx NeuroSciences Ghent Belgium Janssen Research & Development San Diego CA USA IMIM (Hospital del Mar Medical Research Institute) Barcelona Spain Laboratori de Referència de Catalunya Barcelona Spain Centro de Investigación Biomédica en Red Fisiopatología de la Obesidad y la Nutrición (CIBEROBN) Madrid Spain Clinical Neurochemistry Laboratory S

Background Several blood phosphorylated tau (P-tau) species (P-tau181, P-tau217, and P-tau231) have shown high accuracy to detect AD pathology, but a direct comparison of the main blood P-tau assays in a real-world me...

Background Several blood phosphorylated tau (P-tau) species (P-tau181, P-tau217, and P-tau231) have shown high accuracy to detect AD pathology, but a direct comparison of the main blood P-tau assays in a real-world memory clinic is needed. The main aim of this study is to perform a head-to-head comparison of 9 plasma Tau assays and determine their accuracy to discriminate between symptomatic AD from non-AD. Method This is an observational and cross-sectional study in the BIODEGMAR cohort, which includes patients presenting with cognitive complaints at the Cognitive Decline and Movement Disorders Unit of Hospital del Mar (Barcelona, Spain). Patients were classified into an AD CSF profile group or a non-AD CSF profile group according to their CSF Aβ42/P-tau181 ratio (Lumipulse, Fujirebio), and the discrimination accuracy of 9 plasma Tau assays was tested. All plasma samples were treated identically and measurements were performed in a blinded fashion. Result A total of 197 participants (109 women [55.3%]; mean [SD] age, 72.3 [5.83] years), were investigated. All plasma Tau biomarkers were significantly higher in the AD CSF profile group than in the non-AD CSF profile group. For plasma Tau biomarkers, the largest effect sizes were found in plasma Janssen P-tau217 (r = 0.76), Lilly P-tau217 (r = 0.73), ADx P-tau181 (r = 0.73), Lilly P-tau181 (r = 0.68), and UGot P-tau231 (r = 0.63). All plasma Tau biomarkers significantly discriminated between patients with an AD CSF profile group from those with a non-AD CSF profile. The AUC of plasma Tau biomarkers were the following (from highest to lower): Janssen P-tau217 (0.96; 95% CI, 0.93-0.99), ADx P-tau181 (0.94; 95% CI, 0.91-0.97) and Lilly P-tau217 (0.94; 95% CI, 0.90-0.98), Lilly P-tau181 (0.91; 95% CI, 0.87-0.96), UGot P-tau231 (0.88; 95% CI, 0.83-0.93), Quanterix P-tau181 (0.80; 95% CI, 0.73-0.87), UGot P-tau181 (0.80; 95% CI, 0.73-0.87), Lilly Total-tau (0.73; 95% CI, 0.65-0.81), and ADx P-tau231 (0.66; 95% CI, 0.58-0.74

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Correction: The functional connectome in obsessive-compulsive disorder: resting-state mega-analysis and machine learning classification for the ENIGMA-OCD consortium

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Molecular psychiatry 2023年第10期28卷 4320页

作者： Willem B Bruin Yoshinari Abe Pino Alonso Alan Anticevic Lea L Backhausen Srinivas Balachander Nuria Bargallo Marcelo C Batistuzzo Francesco Benedetti Sara Bertolin Triquell Silvia Brem Federico Calesella Beatriz Couto Damiaan A J P Denys Marco A N Echevarria Goi Khia Eng Sónia Ferreira Jamie D Feusner Rachael G Grazioplene Patricia Gruner Joyce Y Guo Kristen Hagen Bjarne Hansen Yoshiyuki Hirano Marcelo Q Hoexter Neda Jahanshad Fern Jaspers-Fayer Selina Kasprzak Minah Kim Kathrin Koch Yoo Bin Kwak Jun Soo Kwon Luisa Lazaro Chiang-Shan R Li Christine Lochner Rachel Marsh Ignacio Martínez-Zalacaín Jose M Menchon Pedro S Moreira Pedro Morgado Akiko Nakagawa Tomohiro Nakao Janardhanan C Narayanaswamy Erika L Nurmi Jose C Pariente Zorrilla John Piacentini Maria Picó-Pérez Fabrizio Piras Federica Piras Christopher Pittenger Janardhan Y C Reddy Daniela Rodriguez-Manrique Yuki Sakai Eiji Shimizu Venkataram Shivakumar Blair H Simpson Carles Soriano-Mas Nuno Sousa Gianfranco Spalletta Emily R Stern S Evelyn Stewart Philip R Szeszko Jinsong Tang Sophia I Thomopoulos Anders L Thorsen Tokiko Yoshida Hirofumi Tomiyama Benedetta Vai Ilya M Veer Ganesan Venkatasubramanian Nora C Vetter Chris Vriend Susanne Walitza Lea Waller Zhen Wang Anri Watanabe Nicole Wolff Je-Yeon Yun Qing Zhao Wieke A van Leeuwen Hein J F van Marle Laurens A van de Mortel Anouk van der Straten Ysbrand D van der Werf Paul M Thompson Dan J Stein Odile A van den Heuvel Guido A van Wingen Amsterdam UMC location University of Amsterdam Department of Psychiatry Meibergdreef 9 Amsterdam The Netherlands. willembenjamin@***. Amsterdam Neuroscience Amsterdam The Netherlands. willembenjamin@***. Department of Psychiatry Graduate School of Medical Science Kyoto Prefectural University of Medicine Kyoto Japan. Department of Psychiatry Bellvitge University Hospital Barcelona Spain. Department of Clinical Science Faculty of Medicine University of Barcelona Barcelona Spain. IDIBELL Bellvitge University Hospital Barcelona Spain. CIBERSAM Instituto de Salud Carlos III Madrid Spain. Department of Psychiatry Yale University New Haven CT USA. Department of Child and Adolescent Psychiatry Faculty of Medicine Technische Universität Dresden Dresden Germany. Department of Psychiatry National Institute of Mental Health And Neurosciences (NIMHANS) Bangalore India. Radiology Service Diagnosis Image Center Hospital Clinic de Barcelona Barcelona Spain. Magnetic Resonance Image Core Facility Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) Barcelona Spain. Department of Psychiatry University of Sao Paulo School of Medicine Sao Paulo Brazil. Department of Methods and Techniques in Psychology Pontifical Catholic University Sao Paulo Brazil. Vita-Salute San Raffaele University Milano Italy. Psychiatry & Clinical Psychobiology Division of Neuroscience IRCCS Scientific Institute Ospedale San Raffaele Milano Italy. Bellvitge Biomedical Research Insitute-IDIBELL Bellvitge University Hospital Barcelona Spain. Department of Child and Adolescent Psychiatry and Psychotherapy University Hospital of Psychiatry University of Zurich Zurich Switzerland. Neuroscience Center Zurich University of Zurich and ETH Zurich Zurich Switzerland. Life and Health Sciences Research Institute (ICVS) School of Medicine University of Minho Braga Portugal. ICVS/3B's PT Government Associate Laboratory Braga/Guimarães Portugal. Clinical Academic Center-Braga Braga Portuga

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Neural Correlates of Mild Behavioral Impairment in older adults across the neurodegenerative spectrum

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Alzheimer's & Dementia 2023年第S18期19卷

作者： Neda Rashidi-Ranjbar Nathan W Churchill Sandra E. Black Sanjeev Kumar Carmela Tartaglia Morris Freedman Anthony E Lang Thomas Steeves Richard H. Swartz Gustavo Saposnik Donna Kwan Paula McLaughlin Angela Troyer Sean Symons Stephen C. Strother Michael Borrie Andrew R Frank Stephen H Pasternak Bruce G. Pollock Tarek K. Rajji Dallas Seitz David F. Tang-Wai Leanne Casaubon Jennifer Mandzia Mandar Jog Mario Masellis Christopher J. M. Scott Sabrina M. Adamo Miracle Ozzoude Zahinoor Ismail David G. Munoz Dar Dowlatshahi Ayman Hassan Connie Marras Robert Bartha Joel Ramirez Courtney Berezuk Melissa F. Holmes Demetrios J. Sahlas Alisia Southwell Stephen R. Arnott David A. Grimes Tom A. Schweizer Corinne E. Fischer University of Toronto Toronto ON Canada Keenan Research Centre for Biomedical Science the Li Ka Shing Knowledge Institute St. Michael’s Hospital Toronto ON Canada LC Campbell Cognitive Neurology Research Unit Sunnybrook Research Institute University of Toronto Toronto ON Canada Division of Neurology Department of Medicine University of Toronto Toronto ON Canada Campbell Family Mental Health Research Institute Centre for Addiction and Mental Health Toronto ON Canada Department of Psychiatry Temerty Faculty of Medicine University of Toronto Toronto ON Canada Tanz Centre for Research in Neurodegenerative Diseases University of Toronto Toronto ON Canada Division of Neurology Krembil Neuroscience Centre Toronto Western Hospital University Health Network Memory Clinic Toronto ON Canada Department of Medicine University of Toronto Toronto ON Canada Rotman Research Institute Baycrest Health Sciences Toronto ON Canada Krembil Brain Institute Toronto ON Canada Hurvitz Brain Sciences Program Sunnybrook Research Institute Toronto ON Canada Li Ka Shing Knowledge Institute Toronto ON Canada Ontario Neurodegenerative Disease Research Initiative Toronto ON Canada Sunnybrook Health Sciences Centre Toronto ON Canada Rotman Research Institute Baycrest University of Toronto Toronto ON Canada Lawson Health Research Institute Western University London ON Canada University of Ottawa Ottawa ON Canada Parkwood Institute/St Joseph’s Healthcare Center London ON Canada University of Calgary Calgary AB Canada Western University London ON Canada LC Campbell Cognitive Neurology Research Unit Sunnybrook Research Institute Toronto ON Canada Canadian Partnership for Stroke Recovery Toronto ON Canada Sandra Black Centre for Brain Resilience and Recovery Sunnybrook Research Institute Toronto ON Canada University of Calgary Cumming School of Medicine Calgary AB Canada Department of Laboratory Medicine and Pathobiology University of Toronto Toronto ON

Background Mild behavioral impairment (MBI) is a syndrome characterized by later life onset, persistent neuropsychiatric symptoms (NPS) in non-demented older adults. MBI can co-occur with Mild Cognitive Impairment (MC...

Background Mild behavioral impairment (MBI) is a syndrome characterized by later life onset, persistent neuropsychiatric symptoms (NPS) in non-demented older adults. MBI can co-occur with Mild Cognitive Impairment (MCI) and has a range of neurodegenerative etiologies including Alzheimer’s disease (AD), Cerebrovascular Disease (CVD), and Parkinson’s disease (PD). MBI is associated with poorer cognitive and psychosocial function and an increased risk of developing dementia. Thus, we aimed to explore the structural neural correlates of MBI, specifically in the regions known to be associated with cognitive impairment (i.e., corticolimbic and frontal-executive circuits), across multiple neurodegenerative diagnoses from the Ontario Neurodegenerative Disease Research Initiative (ONDRI). Method We assessed the association between MBI and brain structural alterations via T1-weighted imaging in three groups with Montreal Cognitive Assessment scores ³19: individuals with MCI (due to AD; n = 37), CVD (n = 129), and PD (n = 127). NPS scores were derived from the Neuropsychiatric Inventory (NPI-Q) domains, and categorized as NPS+ (i.e., NPI score>0); and NPS- (NPI score = 0). We selected regions of interest from the corticolimbic and frontal-executive circuits to measure brain structure using cortical thickness and subcortical volume. Partial correlation, corrected for age, sex, and education was used to assess the association between MBI and brain structural alterations. Result Overall, apathy, depression, and anxiety, which map to the decreased motivation and emotional dysregulation MBI domains, had a high prevalence across all the groups. In the brain-MBI association analysis, apathy was associated with decreased thickness of the l-rostral middle frontal, r-superior temporal, and frontal pole in the PD and CVD (but not MCI) groups. Anxiety was associated with decreased volume of the right hippocampus and amygdala in the MCI group, but not CVD or PD (FDR p< 0.05). No structural

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Corrigendum to "Dementia diagnostic and treatment services in the Western Pacific: challenges, preparedness and opportunities in the face of amyloid-targeting therapies" [The Lancet Regional Health-Western Pacific, Volume 50, September 2024, 101183]

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The Lancet regional health. Western Pacific 2024年 52卷 101249页

作者： Claire O'Callaghan Johannes C Michaelian Yoko Aihara Veeda Michelle Anlacan Christopher Chen Gary Cheung Etuini Ma'u Tuan Anh Nguyen Ming-Chyi Pai Anna Palagyi Maw Pin Tan Shyh Poh Teo Yuda Turana Huali Wang Gloria Wong Sharon L Naismith Brain and Mind Centre and School of Medical Sciences Faculty of Medicine and Health University of Sydney Australia. Healthy Brain Ageing Program Brain and Mind Centre and Charles Perkins Centre School of Psychology Faculty of Science University of Sydney NSW Australia. Graduate School of Health Sciences Okayama University Japan. Department of Neurosciences College of Medicine and Philippine General Hospital University of the Philippines Manila Manila Philippines. Memory Aging and Cognition Centre Departments of Pharmacology and Psychological Medicine Yong Loo Lin School of Medicine National University of Singapore Singapore. Department of Psychological Medicine School of Medicine Faculty of Medical and Health Sciences The University of Auckland Auckland New Zealand. National Ageing Research Institute School of Health Sciences Swinburne University of Technology UniSA Clinical & Health Sciences University of South Australia Australia. Division of Behavioral Neurology Department of Neurology Medical College and Hospital National Cheng Kung University Tainan Taiwan. The George Institute for Global Health University of New South Wales Sydney Australia. Division of Geriatric Medicine Department of Medicine Faculty of Medicine Universiti Malaya Kuala Lumpur Malaysia. PAPRSB Institute of Health Sciences Universiti Brunei Darussalam Brunei Darussalam. Department of Neurology School of Medicine and Health Sciences Atma Jaya Catholic University of Indonesia Jakarta Indonesia. Dementia Care and Research Center Peking University Institute of Mental Health (Sixth Hospital) No. 51 Huayuanbei Road Beijing 100191 China. Department of Social Work and Social Administration The University of Hong Kong and School of Psychology and Clinical Language Sciences University of Reading United Kingdom.

[This corrects the article DOI: 10.1016/***.2024.101183.].

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Protective association ofHLA-DRB1*04 subtypes in neurodegenerative diseases implicates acetylated tau PHF6 sequences

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Alzheimer's & Dementia 2022年第S3期18卷

作者： Yann Le Guen Guo Luo Aditya Ambati Vincent Damotte Iris E Jansen Eric Yu Aude Nicolas Itziar de Rojas Thiago Peixoto Leal Akinori Miyashita Céline Bellenguez Michelle Mulan Lian Kayenat Parveen Takashi Morizono Hyeonseul Park Benjamin Grenier-Boley Tatsuhiko Naito Fahri Küçükali Seth D. Talyansky Selina Marie Yogeshwar Vicente Sempere Wataru Satake Victoria Álvarez-Martínez Beatrice Arosio Michael E Belloy Luisa Benussi Anne Boland Barbara Borroni María J. Bullido Paolo Caffarra Jordi Clarimon Antonio Daniele Daniel Darling Stéphanie Debette Jean-François Deleuze Martin Dichgans Carole Dufouil Emmanuel During Emrah Duzel Daniela Galimberti Guillermo García-Ribas Jose María García-Alberca Pablo García-González Vilmantas Giedraitis Oliver Goldhardt Caroline Graff Edna Grunblatt Olivier Hanon Lucrezia Hausner Stefanie Heilmann-Heimbach Henne Holstege Jakub Hort Yoo Jin Jung Deckert Jurgen Silke Kern Teemu Kuulasmaa Kun Ho Lee Ling Ling Carlo Masullo Patrizia Mecocci Shima Mehrabian Alexandre de Mendonça Mercè Boada Pablo Mir Susanne Moebus Fermin Moreno Benedetta Nacmias Gaël Nicolas Shumpei Niida Børge G. Nordestgaard Goran Papenberg Janne M. Papma Lucilla Parnetti Florence Pasquier Pau Pastor Oliver Peters Yolande A.L. Pijnenburg Gerard Piñol-Ripoll Julius Popp Laura Molina Raquel Puerta Jordi Pérez-Tur Innocenzo Rainero Luis Miguel Real Steffi G. Riedel-Heller Eloy Rodríguez Rodríguez José Luís Royo Dan Rujescu Nikolaos Scarmeas Philip Scheltens Norbert Scherbaum Anja Schneider Davide Seripa Ingmar Skoog Vincenzo Solfrizzi Gianfranco Spalletta Alessio Squassina John C van Swieten Raquel Sanchez-Valle Eng-King Tan Thomas Tegos Charlotte E. Teunissen Jesper Qvist Thomassen Lucio Tremolizzo Martin Vyhnalek Frans R.J. Verhey Margda Waern Jens Wiltfang Jing Zhang Henrik Zetterberg Kaj Blennow Julie Williams Philippe Amouyel Frank Jessen Patrick G Kehoe Ole Andreassen Cornelia M van Duijn Magda Tsolaki Pascual Sanchez-Juan Ruth Frikke-Schmidt Kristel Sleegers Tatsushi Toda Anna Zettergren Martin Ingelsson Yukinori Okad Stanford University Stanford CA USA Institut du Cerveau - Paris Brain Institute - ICM Paris CA France UMR1167 Université de Lille Inserm CHU Lille Institut Pasteur de Lille Lille France Alzheimer Center Amsterdam Department of Neurology Amsterdam Neuroscience Vrije Universiteit Amsterdam Amsterdam UMC Amsterdam Netherlands The Neuro (Montreal Neurological Institute-Hospital) McGill University Montreal QC Canada Univ. Lille Inserm CHU Lille Institut Pasteur de Lille U1167-RID-AGE Facteurs de risque et déterminants moléculaires des maladies liées au vieillissement F-59000 Lille France Research Center and Memory Clinic Fundació ACE Institut Català de Neurociències Aplicades - Universitat Internacional de Catalunya (UIC) Barcelona Spain Genomic Medicine Lerner Research Institute Cleveland Clinic Cleveland OH USA Department of Molecular Genetics Brain Research Institute Niigata University Niigata Japan Lee Kong Chian School of Medicine Nanyang Technological University Singapore Singapore Singapore Division of Neurogenetics and Molecular Psychiatry Department of Psychiatry and Psychotherapy Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany Medical Genome Center Research Institute National Center for Geriatrics and Gerontology Obu Aichi Japan Department of Biomedical Science Chosun University Gwangju Korea Republic of (South) Department of Statistical Genetics Osaka University Graduate School of Medicine Sutia Japan VIB Center for Molecular Neurology VIB Antwerp Belgium Department of Neurology Graduate School of Medicine The University of Tokyo Tokyo Japan Hospital Universitario Central de Asturias Oviedo Spain Department of Clinical Sciences and Community Health University of Milan 20122 Milan Italy Milan Italy IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli Brescia Italy Université Paris-Saclay Centre National de Génotypage Institut de Génomique / CEA Evry France Centre for Neurodegenerati

Background Alzheimer’s disease (AD), Parkinson’s disease (PD), Amyotrophic Lateral Sclerosis (ALS) and other neurodegenerative diseases are responsible for considerable morbidity and mortality. With incidence rising...

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Correction: Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy

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Molecular neurodegeneration 2024年第1期19卷 73页

作者： Hui Wang Timothy S Chang Beth A Dombroski Po-Liang Cheng Vishakha Patil Leopoldo Valiente-Banuet Kurt Farrell Catriona Mclean Laura Molina-Porcel Alex Rajput Peter Paul De Deyn Nathalie Le Bastard Marla Gearing Laura Donker Kaat John C Van Swieten Elise Dopper Bernardino F Ghetti Kathy L Newell Claire Troakes Justo G de Yébenes Alberto Rábano-Gutierrez Tina Meller Wolfgang H Oertel Gesine Respondek Maria Stamelou Thomas Arzberger Sigrun Roeber Ulrich Müller Franziska Hopfner Pau Pastor Alexis Brice Alexandra Durr Isabelle Le Ber Thomas G Beach Geidy E Serrano Lili-Naz Hazrati Irene Litvan Rosa Rademakers Owen A Ross Douglas Galasko Adam L Boxer Bruce L Miller Willian W Seeley Vivanna M Van Deerlin Edward B Lee Charles L White Huw Morris Rohan de Silva John F Crary Alison M Goate Jeffrey S Friedman Yuk Yee Leung Giovanni Coppola Adam C Naj Li-San Wang Clifton Dalgard Dennis W Dickson Günter U Höglinger Gerard D Schellenberg Daniel H Geschwind Wan-Ping Lee Department of Pathology and Laboratory Medicine Perelman School of Medicine University of Pennsylvania Philadelphia PA USA. Penn Neurodegeneration Genomics Center Perelman School of Medicine University of Pennsylvania Philadelphia PA USA. Movement Disorders Programs Department of Neurology David Geffen School of Medicine University of California Los Angeles Los Angeles CA USA. Department of Pathology Department of Artificial Intelligence & Human Health Nash Family Department of Neuroscience Ronald M. Loeb Center for Alzheimer's Disease Friedman Brain Institute Neuropathology Brain Bank & Research CoRE Icahn School of Medicine at Mount Sinai New York NY USA. Victorian Brain Bank The Florey Institute of Neuroscience and Mental Health Parkville VIC Australia. Alzheimer's Disease and Other Cognitive Disorders Unit. Neurology Service Hospital Clínic Fundació Recerca Clínic Barcelona (FRCB). Institut d'Investigacions Biomediques August Pi I Sunyer (IDIBAPS) University of Barcelona Barcelona Spain. Neurological Tissue Bank of the Biobanc-Hospital Clínic-IDIBAPS Barcelona Spain. Movement Disorders Program Division of Neurology University of Saskatchewan Saskatoon SK Canada. Laboratory of Neurochemistry and Behavior Experimental Neurobiology Unit University of Antwerp Wilrijk (Antwerp) Belgium. Department of Neurology University Medical Center Groningen NL-9713 AV Groningen Netherlands. Fujirebio Europe NV Technologiepark 6 9052 Ghent Belgium. Department of Pathology and Laboratory Medicine and Department of Neurology Emory University School of Medicine Atlanta GA USA. Netherlands Brain Bank and Erasmus University Rotterdam Netherlands. Department of Pathology and Laboratory Medicine Indiana University School of Medicine Indianapolis IN USA. London Neurodegenerative Diseases Brain Bank King's College London London UK. Autonomous University of Madrid Madrid Spain. Fundación CIEN (Centro de Investigación de Enfermedades Neurológicas) - Centro Alzheimer F

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Author Correction: BigNeuron: a resource to benchmark and predict performance of algorithms for automated tracing of neurons in light microscopy datasets

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Nature methods 2024年第10期21卷 1959页

作者： Linus Manubens-Gil Zhi Zhou Hanbo Chen Arvind Ramanathan Xiaoxiao Liu Yufeng Liu Alessandro Bria Todd Gillette Zongcai Ruan Jian Yang Miroslav Radojević Ting Zhao Li Cheng Lei Qu Siqi Liu Kristofer E Bouchard Lin Gu Weidong Cai Shuiwang Ji Badrinath Roysam Ching-Wei Wang Hongchuan Yu Amos Sironi Daniel Maxim Iascone Jie Zhou Erhan Bas Eduardo Conde-Sousa Paulo Aguiar Xiang Li Yujie Li Sumit Nanda Yuan Wang Leila Muresan Pascal Fua Bing Ye Hai-Yan He Jochen F Staiger Manuel Peter Daniel N Cox Michel Simonneau Marcel Oberlaender Gregory Jefferis Kei Ito Paloma Gonzalez-Bellido Jinhyun Kim Edwin Rubel Hollis T Cline Hongkui Zeng Aljoscha Nern Ann-Shyn Chiang Jianhua Yao Jane Roskams Rick Livesey Janine Stevens Tianming Liu Chinh Dang Yike Guo Ning Zhong Georgia Tourassi Sean Hill Michael Hawrylycz Christof Koch Erik Meijering Giorgio A Ascoli Hanchuan Peng Institute for Brain and Intelligence Southeast University Nanjing China. Microsoft Corporation Redmond WA USA. Tencent AI Lab Bellevue WA USA. Computing Environment and Life Sciences Directorate Argonne National Laboratory Lemont IL USA. Kaya Medical Seattle WA USA. University of Cassino and Southern Lazio Cassino Italy. Center for Neural Informatics Structures and Plasticity Krasnow Institute for Advanced Study George Mason University Fairfax VA USA. Faculty of Information Technology Beijing University of Technology Beijing China. Beijing International Collaboration Base on Brain Informatics and Wisdom Services Beijing China. Nuctech Netherlands Rotterdam the Netherlands. Janelia Research Campus Howard Hughes Medical Institute Ashburn VA USA. Department of Electrical and Computer Engineering University of Alberta Edmonton Alberta Canada. Ministry of Education Key Laboratory of Intelligent Computation and Signal Processing Anhui University Hefei China. Paige AI New York NY USA. Scientific Data Division and Biological Systems and Engineering Division Lawrence Berkeley National Lab Berkeley CA USA. Helen Wills Neuroscience Institute and Redwood Center for Theoretical Neuroscience UC Berkeley Berkeley CA USA. RIKEN AIP Tokyo Japan. Research Center for Advanced Science and Technology (RCAST) The University of Tokyo Tokyo Japan. School of Computer Science University of Sydney Sydney New South Wales Australia. Texas A&M University College Station TX USA. Cullen College of Engineering University of Houston Houston TX USA. Graduate Institute of Biomedical Engineering National Taiwan University of Science and Technology Taipei Taiwan. National Centre for Computer Animation Bournemouth University Poole UK. PROPHESEE Paris France. Department of Neuroscience Columbia University New York NY USA. Mortimer B. Zuckerman Mind Brain Behavior Institute Columbia University New York NY USA. Department of Computer Science Northern Illinois Universit

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Correction: White matter diffusion estimates in obsessive-compulsive disorder across 1653 individuals: machine learning findings from the ENIGMA OCD Working Group

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Molecular psychiatry 2024年第4期29卷 1216页

作者： Bo-Gyeom Kim Gakyung Kim Yoshinari Abe Pino Alonso Stephanie Ameis Alan Anticevic Paul D Arnold Srinivas Balachander Nerisa Banaj Nuria Bargalló Marcelo C Batistuzzo Francesco Benedetti Sara Bertolín Jan Carl Beucke Irene Bollettini Silvia Brem Brian P Brennan Jan K Buitelaar Rosa Calvo Miguel Castelo-Branco Yuqi Cheng Ritu Bhusal Chhatkuli Valentina Ciullo Ana Coelho Beatriz Couto Sara Dallaspezia Benjamin A Ely Sónia Ferreira Martine Fontaine Jean-Paul Fouche Rachael Grazioplene Patricia Gruner Kristen Hagen Bjarne Hansen Gregory L Hanna Yoshiyuki Hirano Marcelo Q Höxter Morgan Hough Hao Hu Chaim Huyser Toshikazu Ikuta Neda Jahanshad Anthony James Fern Jaspers-Fayer Selina Kasprzak Norbert Kathmann Christian Kaufmann Minah Kim Kathrin Koch Gerd Kvale Jun Soo Kwon Luisa Lazaro Junhee Lee Christine Lochner Jin Lu Daniela Rodriguez Manrique Ignacio Martínez-Zalacaín Yoshitada Masuda Koji Matsumoto Maria Paula Maziero Jose M Menchón Luciano Minuzzi Pedro Silva Moreira Pedro Morgado Janardhanan C Narayanaswamy Jin Narumoto Ana E Ortiz Junko Ota Jose C Pariente Chris Perriello Maria Picó-Pérez Christopher Pittenger Sara Poletti Eva Real Y C Janardhan Reddy Daan van Rooij Yuki Sakai João Ricardo Sato Cinto Segalas Roseli G Shavitt Zonglin Shen Eiji Shimizu Venkataram Shivakumar Noam Soreni Carles Soriano-Mas Nuno Sousa Mafalda Machado Sousa Gianfranco Spalletta Emily R Stern S Evelyn Stewart Philip R Szeszko Rajat Thomas Sophia I Thomopoulos Daniela Vecchio Ganesan Venkatasubramanian Chris Vriend Susanne Walitza Zhen Wang Anri Watanabe Lidewij Wolters Jian Xu Kei Yamada Je-Yeon Yun Mojtaba Zarei Qing Zhao Xi Zhu Paul M Thompson Willem B Bruin Guido A van Wingen Federica Piras Fabrizio Piras Dan J Stein Odile A van den Heuvel Helen Blair Simpson Rachel Marsh Jiook Cha Department of Psychology College of Social Sciences Seoul National University Seoul Republic of Korea. Department of Brain and Cognitive Sciences College of Natural Sciences Seoul National University Seoul Republic of Korea. Graduate School of Medical Science Kyoto Prefectural University of Medicine Department of Psychiatry Kyoto City Japan. Bellvitge Biomedical Research Insitute-IDIBELL Bellvitge University Hospital Barcelona Spain. CIBER of Mental Health (CIBERSAM) Carlos III Health Institute Madrid Spain. Department of Clinical Sciences University of Barcelona Barcelona Spain. The Margaret and Wallace McCain Centre for Child Youth & Family Mental Health and Campbell Family Mental Health Research Institute Centre for Addiction and Mental Health Toronto ON Canada. Department of Psychiatry University of Toronto Toronto ON Canada. Program in Neurosciences and Mental Health The Hospital for Sick Children Toronto ON Canada. Department of Psychiatry Yale University School of Medicine New Haven CT 06510 USA. The Mathison Centre for Mental Health Research & Education Hotchkiss Brain Institute Cumming School of Medicine University of Calgary Calgary AB Canada. Departments of Psychiatry and Medical Genetics Cumming School of Medicine University of Calgary Calgary AB Canada. OCD clinic Department of Psychiatry National Institute of Mental Health And Neurosciences (NIMHANS) Bangalore India. Laboratory of Neuropsychiatry Department of Clinical and Neuroscience and Neurorehabilitation IRCCS Santa Lucia Foundation Rome Italy. Center of Image Diagnostic Hospital Clínic de Barcelona Barcelona Spain. Magnetic Resonance Image Core Facility Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) Barcelona Spain. Departamento e Instituto de Psiquiatria do Hospital das Clinicas IPQ HCFMUSP Faculdade de Medicina Universidade de Sao Paulo Sao Paulo SP Brazil. Department of Methods and Techniques in Psychology Pontifical Catholic University São Paulo SP

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Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease

引用

Alzheimer's & Dementia 2022年第S11期18卷

作者： Marie-Gabrielle Duperron Maria J. Knol Quentin Le Grand Tavia E Evans Aniket Mishra Gennady V. Roshchupkin Takahiro Konuma David Alexandre Tregouët Jose Rafael Romero Stefan Frenzel Michelle Luciano Edith Hofer Mathieu Bourgey Nicole D Dueker Pilar Delgado Saima Hilal Rick M. Tankard Florian Dubost Jean Shin Yasaman Saba Christopher Chen Tatjana Rundek Alexander Teumer Ami Tsuchida Helena Schmidt Perminder S. Sachdev Wei Wen Anne Joutel Claudia L Satizabal Ralph Sacco Guillaume Bourque Mark Lathrop Tomas Paus Israel Fernandez-Cadenas Bernard Mazoyer Yukinori Okada Hans J. Grabe Karen A Mather Reinhold Schmidt M. Arfan Ikram Christophe Tzourio Joanna M Wardlaw Sudha Seshadri Hieab H.H. Adams Stéphanie Debette University of Bordeaux Inserm Bordeaux Population Health Research Center UMR 1219 Bordeaux France Erasmus MC - University Medical Center Rotterdam Rotterdam Netherlands Erasmus MC University Medical Center Rotterdam Netherlands Department of Statistical Genetics Osaka University Graduate School of Medicine Osaka Japan Central Pharmaceutical Research Institute Takatsuki Japan University of Bordeaux Inserm Bordeaux Population Health Research Center Bordeaux France Boston University Boston MA USA University Medicine Greifswald Greifswald Germany University of Edinburgh Edinburgh United Kingdom Institut für Medizinische Informatik Statistik und Dokumentation Graz Austria McGill University Montreal QC Canada University of Miami Miami FL USA Institut de Recerca Vall d'hebron. Universitat Autònoma de Barcelona Barcelone Spain National University of Singapore Singapore Singapore Saw Swee Hock School of Public Health National University of Singapore and National University Health System Singapore Singapore Memory Aging and Cognition Center National University Health System Singapore Singapore Mathematics and Statistics Murdoch University Australia Australia University of Toronto Toronto ON Canada National University of Singapore Kent Ridge Singapore University of Miami Miller School of Medicine Miami Beach FL USA Institute for Community Medicine University Medicine Greifswald Greifswald Germany Univ. Bordeaux CEA CNRS IMN UMR 5293 Bordeaux France Medical University of Graz Graz Austria Centre for Healthy Brain Ageing (CHeBA) UNSW Sydney Sydney NSW Australia Neuropsychiatric Institute Prince of Wales Hospital Sydney NSW Australia Centre for Healthy Brain Ageing UNSW Sydney Randwick Australia Neuropsychiatric Institute Prince of Wales Hospital Randwick Australia Institut de Psychiatrie et Neurosciences de Paris Université de Paris Inserm U1266 Paris France Boston University School of Medicine Boston MA USA Framingham Heart Study NHLBI F

Background Perivascular space (PVS) burden is an emerging MRI-marker of cerebral small vessel disease (cSVD), a leading cause of stroke and dementia. Underlying mechanisms of PVS are unknown. PVS are thought to be rel...

Background Perivascular space (PVS) burden is an emerging MRI-marker of cerebral small vessel disease (cSVD), a leading cause of stroke and dementia. Underlying mechanisms of PVS are unknown. PVS are thought to be related to the glymphatic system, involved in brain clearance of molecules such as amyloid beta. We aimed to decipher the genetic underpinnings of PVS burden. Method We conducted genome-wide and whole-exome association studies in N = 39,823 participants for white matter (WM) PVS, N = 40,000 for basal ganglia (BG) PVS and N = 40,095 for hippocampal (HIP) PVS (21 population-based cohorts, 66.3±8.6 years). As PVS were rated with different scales across cohorts, we tested association of genetic variants with the top quartile of PVS burden distribution in each cohort followed by a sample-size weighted meta-analysis. We searched for shared genetic variation with related vascular and neurological phenotypes using linkage disequilibrium-score regression, explored causality of associations with putative risk factors using Mendelian randomization and conducted extensive functional exploration of identified PVS loci using multiple bioinformatics approaches, including transcriptome-wide association studies. Result We identified 24 genome-wide significant PVS risk loci. These showed association with WM PVS already at age 20 in 1,748 young healthy adults, suggesting an important role of early-life factors. PVS loci were enriched in genes causing early-onset leukodystrophies and genes expressed in fetal brain endothelial cells. Mendelian randomization analyses supported causal associations of high blood pressure with BG and HIP PVS, and of BG PVS with stroke. Transcriptome-wide association and colocalization analyses suggest causal implication of 11 genes, that could be prioritized for experimental follow-up. Two-thirds of PVS loci point to novel pathways, involving extracellular matrix, membrane transport, and developmental processes, with enrichment in targets of exist

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