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Equivalency of the diagnostic accuracy of the PHQ-8 and PHQ-9: a systematic review and individual participant data meta-analysis (vol 50, pg 1368, 2020)

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PSYCHOLOGICAL MEDICINE 2020年第16期50卷 2816-2816页

作者： Wu, Yin Levis, Brooke Riehm, Kira E. Saadat, Nazanin Levis, Alexander W. Azar, Marleine Rice, Danielle B. Boruff, Jill Cuijpers, Pim Gilbody, Simon Ioannidis, John P. A. Kloda, Lorie A. McMillan, Dean Patten, Scott B. Shrier, Ian Ziegelstein, Roy C. Akena, Dickens H. Arroll, Bruce Ayalon, Liat Baradaran, Hamid R. Baron, Murray Bombardier, Charles H. Butterworth, Peter Carter, Gregory Chagas, Marcos H. Chan, Juliana C. N. Cholera, Rushina Conwell, Yeates de Manvan Ginkel, Janneke M. Fann, Jesse R. Fischer, Felix H. Fung, Daniel Gelaye, Bizu Goodyear-Smith, Felicity Greeno, Catherine G. Hall, Brian J. Harrison, Patricia A. Harter, Martin Hegerl, Ulrich Hides, Leanne Hobfoll, Stevan E. Hudson, Marie Hyphantis, Thomas Inagaki, Masatoshi Jette, Nathalie Khamseh, Mohammad E. Kiely, Kim M. Kwan, Yunxin Lamers, Femke Liu, Shen-Ing Lotrakul, Manote Loureiro, Sonia R. Lowe, Bernd McGuire, Anthony Mohd-Sidik, Sherina Munhoz, Tiago N. Muramatsu, Kumiko Osorio, Flavia L. Patel, Vikram Pence, Brian W. Persoons, Philippe Picardi, Angelo Reuter, Katrin Rooney, Alasdair G. Santos, Ina S. Shaaban, Juwita Sidebottom, Abbey Simning, Adam Stafford, Lesley Sung, Sharon Tan, Pei Lin Lynnette Turner, Alyna van Weert, Henk C. White, Jennifer Whooley, Mary A. Winkley, Kirsty Yamada, Mitsuhiko Benedetti, Andrea Thombs, Brett D. [a1]Lady Davis Institute for Medical Research Jewish General Hospital Montréal Québec Canada [a2]Department of Psychiatry McGill University Montréal Québec Canada [a3]Department of Epidemiology Biostatistics and Occupational Health McGill University Montréal Québec Canada [a4]Department of Psychology McGill University Montréal Québec Canada [a5]Schulich Library of Physical Sciences Life Sciences and Engineering McGill University Montreal Quebec Canada [a6]Department of Clinical Neuro and Developmental Psychology Amsterdam Public Health Research Institute Vrije Universiteit Amsterdam the Netherlands [a7]Hull York Medical School and the Department of Health Sciences University of York Heslington York UK [a8]Department of Medicine Department of Health Research and Policy Department of Biomedical Data Science Department of Statistics Stanford University Stanford California USA [a9]Library Concordia University Montréal Québec Canada [a10]Department of Community Health Sciences University of Calgary Calgary Alberta Canada [a11]Hotchkiss Brain Institute and O’Brien Institute for Public Health University of Calgary Calgary Alberta Canada [a12]Department of Medicine Johns Hopkins University School of Medicine Baltimore Maryland USA [a13]Department of Psychiatry Makerere University College of Health Sciences Kampala Uganda [a14]Department of General Practice and Primary Health Care University of Auckland Auckland New Zealand [a15]Louis and Gabi Weisfeld School of Social Work Bar Ilan University Ramat Gan Israel [a16]Endocrine Research Center Institute of Endocrinology and Metabolism Iran University of Medical Sciences Tehran Iran [a17]Ageing Clinical & Experimental Research Team Institute of Applied Health Sciences School of Medicine Medical Sciences and Nutrition University of Aberdeen Aberdeen Scotland UK [a18]Department of Medicine McGill University Montréal Québec Canada [a19]Department of Rehabilitation Medicine University of Washington S

BackgroundItem 9 of the Patient Health Questionnaire-9 (PHQ-9) queries about thoughts of death and self-harm, but not suicidality. Although it is sometimes used to assess suicide risk, most positive responses are not associated with suicidality. The PHQ-8, which omits Item 9, is thus increasingly used in research. We assessed equivalency of total score correlations and the diagnostic accuracy to detect major depression of the PHQ-8 and *** conducted an individual patient data meta-analysis. We fit bivariate random-effects models to assess diagnostic ***16 742 participants (2097 major depression cases) from 54 studies were included. The correlation between PHQ-8 and PHQ-9 scores was 0.996 (95% confidence interval 0.996 to 0.996). The standard cutoff score of 10 for the PHQ-9 maximized sensitivity + specificity for the PHQ-8 among studies that used a semi-structured diagnostic interview reference standard (N = 27). At cutoff 10, the PHQ-8 was less sensitive by 0.02 (−0.06 to 0.00) and more specific by 0.01 (0.00 to 0.01) among those studies (N = 27), with similar results for studies that used other types of interviews (N = 27). For all 54 primary studies combined, across all cutoffs, the PHQ-8 was less sensitive than the PHQ-9 by 0.00 to 0.05 (0.03 at cutoff 10), and specificity was within 0.01 for all cutoffs (0.00 to 0.01).ConclusionsPHQ-8 and PHQ-9 total scores were similar. Sensitivity may be minimally reduced with the PHQ-8, but specificity is similar.

关键词： Depression diagnostic accuracy individual participant data meta-analysis meta-analysis PHQ-8 PHQ-9 screening systematic review

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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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Abstracts for the 6th Congress of Asian Sleep Research Society

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Sleep and Biological Rhythms 2009年第4期7卷 A1-A49页

作者： Seog Ju Kim In Kyoon Lyoo Yu-Jin Lee Do-Un Jeong Hirohiko Kanai Masanori Ookubo Atsushi Yoshimura Masako Okawa Noto Yamada Takeshi Munezawa Yoshitaka Kaneita Yoneatsu Osaki Hideyuki Kanda Tadahiro Ohtsu Masumi Minowa Kenji Suzuki Susumu Hijuchi Hiroyuki Suzuki Takashi Ohida Takashi Abe Yoko Komada Shoichi Asaoka Yuichi Inoue Jin-Seong Lee Sang-Yong Cho Deependra Kumar Hruda N. Mallick Velayudhan M. Kumar Mahesh K. Kaushik Akihiro Karashima Noiihiro Katayama Mitsuyuki Nakao Ravindra P. Nagendra Sathiamma Sulekha Sathyaprabha T. Narasappa Pradhan Nityanadan Bindu M. Kutty M. Nirmala P. N. Ravindra Basavaraj Ramappa Tubaki T. N. Sathyaprabha D. Sudhakar G. S. Lavekar C. R. Chandrashekar Kazuyoshi Kitaoka Mika Shimizu Sachiko Chikahisa Kazuo Yoshizaki Hiroyoshi Sei Jong-Won Kim Misa Takegami Shin Yamazaki Yasuaki Hayashino Rei Ono Koji Otani Miho Sekiguchi Shinichi Konno Shunichi Fukuhara Antonia J. Jakobson Paul Fitzgerald Russell Conduit Xin Shirley Li Siu Ping Joyce Lam Wai Man Mandy Yu Yun Kwok Wing Kazue Okamoto-Mizuno Koh Mizuno Mituaki Yamamoto Shuichiro Shirakawa Hirokazu Doi Mikako Kato Kazuyuki Shinohara Masako Tamaki Shiori Matsuda Katsuo Yamazaki Tadao Hori Keiko Ogawa Kazumi Takahashi Kunio Kitahama Katuo Yamazaki Yoshimasa Koyama Kohei Shioda Yugo Ueda Yukiko Nakamura Clara Inoue Kazushige Goto Sunao Uchida Yuko Morita Yoshiko Honda Tohru Kodama Mari Hagihara Toru Nakajima Masato Saito Yoshihiko Koga Shinichiro Tanaka Hiroshi Yamadera Madoka Takahara Sachiko Suwa Minoru Onozuka Sadao Sato Fumiharu Togo Taiki Komatsu Takeshi Mitani Jongbae Choi Bin Zhang Taeko Sasai Hiromi Mitsubayashi Mitsuhiro Ohtsu Isao Hasegawa Tatsuya Ishii Akira Komori Asami Suzuki Yue Nakahara Mitsuyasu Hiroki Mariko Nakauma Nobuo Someya Tomomasa Ochiai Shouhei Komori Rayleigh Ping-Ying Chiang Zai-Ting Yeh Seong T. Kim Seung H. Yoon Jeong S. Kwon Jong H. Choi Hyung J. Ahn Youngsoo Kim Bolortuya Yunren Lichao Chen Radhika Basheer Robert W. Mccarley Robert E. Strecker Makoto Honda Tetsuaki Arai Miyuki Fukazawa Yutaka Honda Kuniaki T Department of Psychiatry Gachon University of Medicine and Science Incheon Republic of Korea Department of Psychiatry Seoul National University Seoul Republic of Korea Department of Neuropsychiatry and Center for Sleep and Chronobiology Seoul National University Hospital Seoul Republic of Korea Department of Neuropsychiatry Seoul National University Hospital Seoul Republic of Korea Seoul National University Hospital Seoul Republic of Korea Department of Psychiatry Shiga University of Medical Science Otsu Japan Division of Public Health Department of Social Medicine Nihon University School of Medicine Tokyo Japan Department of Public Health Nihon University School of Medicine Tokyo Japan Division of Environmental and Preventive Medicine Department of Social Medicine Faculty of Medicine Tottori University Yonago Japan Department of Hygiene and Preventive Medicine Fukushima Medical University Fukushima Japan Department of Public Health Showa University School of Medicine Tokyo Japan Faculty of Humanities Seitoku University Matsudo Japan Section on Behavioral Science Division of Clinical Research National Hospital Organization Kurihama Alcoholism Center Yokosuka Japan Department of Otolaryngology Second Hospital Fujita Health University Nagoya Japan National Hospital Organization Kurihama Alcoholism Center Kanagawa Japan Metropolitan Police Department Criminal Investigation Laboratory Tokyo Japan Japan Somnology Center Neuropsychiatrie Research Institute Tokyo Japan Department of Somnology Tokyo Medical University Tokyo Japan Japan Somnology Center Neuropsychiatric Research Institute Tokyo Japan Department of Somnology Tokyo Medical and Dental University Tokyo Japan Center for Sleep and Chronobiology Department of Psychiatry and Behavioral Science Seoul National University College of Medicine Seoul Republic of Korea Department of Psychiatry and Behavioral Science Center for Sleep and Chronobiology Seoul Republic of Korea Department of Physiology Al

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Gene expression imputation across multiple brain regions provides insights into schizophrenia risk (vol 51, pg 659, 2019)

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NATURE GENETICS 2019年第6期51卷 1068-1068页

作者： Huckins, Laura M. Dobbyn, Amanda Ruderfer, Douglas M. Hoffman, Gabriel Wang, Weiqing Pardinas, Antonio F. Rajagopal, Veera M. Als, Thomas D. Nguyen, Hoang T. Girdhar, Kiran Boocock, James Roussos, Panos Fromer, Menachem Kramer, Robin Domenici, Enrico Gamazon, Eric R. Purcell, Shaun Demontis, Ditte Borglum, Anders D. Walters, James T. R. O'Donovan, Michael C. Sullivan, Patrick Owen, Michael J. Devlin, Bernie Sieberts, Solveig K. Cox, Nancy J. Im, Hae Kyung Sklar, Pamela Stahl, Eli A. Pamela Sklar Division of Psychiatric Genomics Icahn School of Medicine at Mount Sinai New York NY USA Department of Genetics and Genomics Icahn School of Medicine at Mount Sinai New York NY USA Department of Psychiatry Icahn School of Medicine at Mount Sinai New York NY USA Icahn Institute for Genomics and Multiscale Biology Icahn School of Medicine at Mount Sinai New York NY USA Vanderbilt University Medical Center Nashville TN USA MRC Centre for Neuropsychiatric Genetics and Genomics Cardiff University Cardiff UK Department of Biomedicine Aarhus University Aarhus Denmark The Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH Denmark Center for Integrative Sequencing Aarhus University Aarhus Denmark Department of Human Genetics David Geffen School of Medicine University of California Los Angeles Los Angeles CA USA Human Brain Collection Core National Institute of Mental Health Bethesda MD USA Laboratory of Neurogenomic Biomarkers Centre for Integrative Biology (CIBIO) University of Trento Trento Italy Clare Hall University of Cambridge Cambridge UK University of North Carolina at Chapel Hill Chapel Hill NC USA Karolinska Institutet Stockholm Sweden Department of Psychiatry University of Pittsburgh Pittsburgh PA USA Systems Biology Sage Bionetworks Seattle WA USA Section of Genetic Medicine Department of Medicine University of Chicago Chicago IL USA Integrated Technology Research Laboratories Pharmaceutical Research Division Takeda Pharmaceutical Company Limited Fujisawa Japan Neuropsychiatry Section Department of Psychiatry Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Neuropsychiatric Signaling Program Department of Psychiatry Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Psychiatry JJ Peters Virginia Medical Center Bronx NY USA Department of Neuroscience Icahn School of Medicine at Mount Sinai New York New York NY USA Friedman Brain Institute

Transcriptomic imputation approaches combine eQTL reference panels with large-scale genotype data in order to test associations between disease and gene expression. These genic associations could elucidate signals in complex genome-wide association study (GWAS) loci and may disentangle the role of different tissues in disease development. We used the largest eQTL reference panel for the dorso-lateral prefrontal cortex (DLPFC) to create a set of gene expression predictors and demonstrate their utility. We applied DLPFC and 12 GTEx-brain predictors to 40,299 schizophrenia cases and 65,264 matched controls for a large transcriptomic imputation study of schizophrenia. We identified 413 genic associations across 13 brain regions. Stepwise conditioning identified 67 non-MHC genes, of which 14 did not fall within previous GWAS loci. We identified 36 significantly enriched pathways, including hexosaminidase-A deficiency, and multiple porphyric disorder pathways. We investigated developmental expression patterns among the 67 non-MHC genes and identified specific groups of pre- and postnatal expression.

关键词： Gene expression Genome-wide association studies Schizophrenia Transcriptomics

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Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

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Movement disorders : official journal of the Movement Disorder Society 2023年第2期38卷 286-303页

作者： Eva-Juliane Vollstedt Susen Schaake Katja Lohmann Shalini Padmanabhan Alexis Brice Suzanne Lesage Christelle Tesson Marie Vidailhet Isabel Wurster Faycel Hentati Anat Mirelman Nir Giladi Karen Marder Cheryl Waters Stanley Fahn Meike Kasten Norbert Brüggemann Max Borsche Tatiana Foroud Eduardo Tolosa Alicia Garrido Grazia Annesi Monica Gagliardi Maria Bozi Leonidas Stefanis Joaquim J Ferreira Leonor Correia Guedes Micol Avenali Simona Petrucci Lorraine Clark Ekaterina Y Fedotova Natalya Y Abramycheva Victoria Alvarez Manuel Menéndez-González Silvia Jesús Maestre Pilar Gómez-Garre Pablo Mir Andrea Carmine Belin Caroline Ran Chin-Hsien Lin Ming-Che Kuo David Crosiers Zbigniew K Wszolek Owen A Ross Joseph Jankovic Kenya Nishioka Manabu Funayama Jordi Clarimon Caroline H Williams-Gray Marta Camacho Mario Cornejo-Olivas Luis Torres-Ramirez Yih-Ru Wu Guey-Jen Lee-Chen Ana Morgadinho Teeratorn Pulkes Pichet Termsarasab Daniela Berg Gregor Kuhlenbäumer Andrea A Kühn Friederike Borngräber Giuseppe de Michele Anna De Rosa Alexander Zimprich Andreas Puschmann George D Mellick Jolanta Dorszewska Jonathan Carr Rosangela Ferese Stefano Gambardella Bruce Chase Katerina Markopoulou Wataru Satake Tatsushi Toda Malco Rossi Marcelo Merello Timothy Lynch Diana A Olszewska Shen-Yang Lim Azlina Ahmad-Annuar Ai Huey Tan Bashayer Al-Mubarak Hasmet Hanagasi Dariusz Koziorowski Sibel Ertan Gençer Genç Patricia de Carvalho Aguiar Melinda Barkhuizen Marcia M G Pimentel Rachel Saunders-Pullman Bart van de Warrenburg Susan Bressman Mathias Toft Silke Appel-Cresswell Anthony E Lang Matej Skorvanek Agnita J W Boon Rejko Krüger Esther M Sammler Vitor Tumas Bao-Rong Zhang Gaetan Garraux Sun Ju Chung Yun Joong Kim Juliane Winkelmann Carolyn M Sue Eng-King Tan Joana Damásio Péter Klivényi Vladimir S Kostic David Arkadir Mika Martikainen Vanderci Borges Jens Michael Hertz Laura Brighina Mariana Spitz Oksana Suchowersky Olaf Riess Parimal Das Brit Mollenhauer Emilia M Gatto Maria Skaalum Petersen Nobutaka Hattori Ruey-Meei Wu Sergey N Illarioshkin Enz Institute of Neurogenetics University of Lübeck Lübeck Germany. Research Programs The Michael J. Fox Foundation for Parkinson's Research New York New York USA. Department of Neurology Sorbonne University Paris Brain Institute - ICM Inserm CNRS Assistance Publique Hôpitaux de Paris Pitié-Salpêtrière Hospital Paris France. Sorbonne University Paris Brain Institute - ICM Inserm CNRS Paris France. Department of Neurodegenerative Diseases University of Tuebingen Tuebingen Baden Wuerttemberg Germany Hertie Institute for Clinical Brain Research and German Centre for Neurodegenerative Diseases Tuebingen Germany. Mongi Ben Hmida National Institute of Neurology Tunis Tunisia. Laboratory of Early Markers of Neurodegeneration Neurological Institute Tel-Aviv Medical Center Tel-Aviv Israel Sackler School of Medicine Tel-Aviv University Tel-Aviv Israel Sagol School of Neuroscience Tel-Aviv University Tel-Aviv Israel. Neurological Institute Tel-Aviv Medical Center Tel-Aviv Israel Sackler School of Medicine Sagol School of Neuroscience Tel-Aviv University Tel-Aviv Israel. Department of Neurology Taub Institute for Alzheimer's Disease and the Aging Brain Columbia University New York New York USA. Department of Neurology Columbia University New York New York USA. Department of Psychiatry and Psychotherapy and Institute of Neurogenetics University of Lübeck Lübeck Germany. Department of Neurology and Institute of Neurogenetics University of Lübeck Lübeck Germany. Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis Indiana USA. Parkinson Disease and Movement Disorders Unit Neurology Service Hospital Clínic de Barcelona Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) University of Barcelona (UB) Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED:CB06/05/0018-ISCIII) Barcelona Spain. Institute of Biomedical Research and Innovation National Research Council Cosenza

BACKGROUND:As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. OBJECTIVE:The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. METHODS:We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype-phenotype relationships were analyzed. RESULTS:We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. CONCLUSIONS:Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward clini

关键词： Parkinson's disease monogenic PD

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