TY - JOUR
T1 - Epidemiology of Neuromyelitis Optica Spectrum Disorder and Its Prevalence and Incidence Worldwide
AU - Guthy-Jackson Charitable Foundation International Clinical Consortium for NMOSD
AU - Hor, Jyh Yung
AU - Asgari, Nasrin
AU - Nakashima, Ichiro
AU - Broadley, Simon A.
AU - Leite, M. Isabel
AU - Kissani, Najib
AU - Jacob, Anu
AU - Marignier, Romain
AU - Weinshenker, Brian G.
AU - Paul, Friedemann
AU - Pittock, Sean J.
AU - Palace, Jacqueline
AU - Wingerchuk, Dean M.
AU - Behne, Jacinta M.
AU - Yeaman, Michael R.
AU - Fujihara, Kazuo
N1 - Funding Information:
Active members of the Guthy-Jackson Charitable Foundation (GJCF) International Clinical Consortium for NMOSD (in alphabetical order as of March 2020): Hesham Abboud (Case Western Reserve University, Cleveland, OH, USA); Orhan Aktas (Institute of Neuroimmunology, Düsseldorf, Germany); Raed Alroughani (Amiri Hospital, Kuwait City, Kuwait); Ayse Altintas (Koc University School of Medicine, Istanbul, Turkey); Lilyana Amezcua (University of Southern California, Los Angeles, CA, USA); Metha Apiwattanakul (Prasat Neurological Institute, Bangkok, Thailand); Nasrin Asgari (University of Southern Denmark, Odense, Denmark); Brenda Banwell (The Children's Hospital of Philadelphia, University of Pennsylvania, PA, USA); Terrence M. Blaschke [Stanford University (Emeritus), Palo Alto, CA, USA]; Jeffrey Bennett (University of Colorado, Denver, CO, USA); Denis Bichuetti (Universidade Federal de São Paulo, São Paulo, Brazil); James Bowen (Swedish Neuroscience Institute, Seattle, WA, USA); Alexey Boyko (Prigov's Russian Scientific Research Medical University, Moscow, Russia); Alexander Brandt (University of California, Irvine, CA, USA); Simon A. Broadley (Griffith University, Southport, QLD, Australia); Wolfgang Brück (University Medical Center Göttingen, Göttingen, Germany); Edgar Carnero Contentti (Hospital Alemán, Buenos Aires, Argentina); Robert Carruthers (University of British Columbia, Vancouver, Canada); Tanuja Chitnis (Brigham and Women's Hospital and Massachusetts General Hospital, Boston, MA, USA); Jeffrey Cohen (Cleveland Clinic, Cleveland, OH, USA); Guillermo Delgado-García (National Autonomous University of Mexico, Mexico City, Mexico); Irena Dujmovic Basuroski (UNC School of Medicine, Chapel Hill, NC, USA); Nikos Evangelou (University of Nottingham, Nottingham, UK); Kazuo Fujihara (Fukushima Medical University, Fukushima, Japan); Andrew Goodman (University of Rochester, Rochester, NY, USA); Benjamin Greenberg (University of Texas Southwestern Medical Center at Dallas, Dallas, TX, USA); Yael Hacohen (Great Ormond Street Hospital/UCL, London, UK); May Han (Stanford University School of Medicine, Stanford, CA, USA); Joachim Havla (Ludwig-Maximilians University, Munich, Germany); Kerstin Hellwig (St. Josef Hospital Bochum, Bochum, Germany); Jyh Yung Hor (Penang General Hospital, Penang, Malaysia); Raffaele Iorio (Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy); Anu Jacob (Walton Centre, Liverpool, UK); Sven Jarius (University of Heidelberg, Heidelberg, Germany); Jorge Andres Jimenez Arango (Universidad de Antioquia, Medellin, Colombia); Ilana Katz-Sand (Icahn School of Medicine at Mount Sinai, New York, NY, USA); Ho Jin Kim (National Cancer Center, Goyang, Republic of Korea); Sung Min Kim (Seoul National University Hospital, Seoul, Republic of Korea); Dorlan Kimbrough (Brigham and Women's Hospital and Massachusetts General Hospital, Boston, MA, USA); Najib Kissani (Neurology Department, University Hospital, Marrakech, Morocco); Ilya Kister (NYU, Langone Medical Center, NY, USA); Eric Klawiter (Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA); Ingo Kleiter (Marianne-Strauß-Klinik, Berg, Germany); Marco Lana-Peixoto (Universidade Federal de Minas Gerais, Belo Horizonte, Brazil); M. Isabel Leite (University of Oxford, Oxford, UK); Michael Levy (Massachusetts General Hospital, Boston, MA, USA); Yaou Liu (Xuanwu Hospital, Capital Medical University, Beijing, China); Fred Lublin (Icahn School of Medicine at Mount Sinai, New York, NY, USA); Youssoufa Maiga (Teaching Hospital Gabriel Touré, Bamako, Mali); Yang Mao-Draayer (University of Michigan, Ann Arbor, MI, USA); Romain Marignier (CHU Lyon, Lyon, France); Sara Mariotto (University of Verona, Verona, Italy); Marcelo Matiello (Brigham and Women's Hospital and Massachusetts General, Boston, MA, USA); Maureen Mealy (Viela Bio, Baltimore, MD, USA); Esther Melamed (UT Austin, Austin, TX, USA); Callene Momtazee (University of California Los Angeles, CA, USA); Ichiro Nakashima (Tohoku Medical and Pharmaceutical University, Sendai, Japan); Jayne Ness (Children's of Alabama— Neurology, AL, USA); Kevin O'Connor (Yale University School of Medicine, New Haven, CT, USA); Celia Oreja-Guevara (Hospital Clínico San Carlos, Madrid, Spain); Jacqueline Palace (University of Oxford, Oxford, UK); Lekha Pandit (K S Hegde Medical Academy, Mangalore, India); Friedemann Paul (Charité University Medicine Berlin, Berlin, Germany); Sarah Planchon Pope (Cleveland Clinic, Cleveland, OH, USA); Anne-Katrin Pröbstel (University Hospital Basel, Basel, Switzerland); Peiqing Qian (Swedish Neuroscience Institute, Seattle, WA, USA); Chao Quan (Huashan Hospital, Shanghai, China); Pavle Repovic (Swedish Neuroscience Institute, Seattle, WA, USA); Claire Riley (Columbia University, New York, NY, USA); Marius Ringelstein (Heinrich-Heine-University, Düsselforf, Germany); Victor Rivera (Houston Methodist Hospital, Houston, TX, USA); Dalia Rotstein (St. Michael's Hospital, Toronto, Canada); Klemens Ruprecht (Charité University Medicine Berlin, Berlin, Germany); Maria José Sá (Centro Hospitalar São João, Porto, Portugal); Albert Saiz (IDIBAPS, Hospital Clinic of Barcelona, Barcelona, Spain); Douglas Sato (Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil); Ché Serguera (MIRCen INSERM/CEA, Paris, France); Eslam Shosha (Prince Sultan Military Medical City, Riyadh, Saudi Arabia); Nancy Sicotte (Cedars Sinai, Los Angeles, CA, USA); Sasitorn Siritho (Mahidol University, Bangkok, Thailand); Aksel Siva (Istanbul University, Cerrahpaşa School of Medicine, Istanbul, Turkey); Terry J. Smith (University of Michigan, Ann Arbor, MI, USA); Ibis Soto de Castillo (Hospital Universitario de Maracaibo, Maracaibo, Venezuela); Silvia Tenembaum (Hospital de Pediatria, Buenos-Aires, Argentina); Leticia Tornes (University of Miami, FL, USA); Pablo Villoslada (Stanford University School of Medicine, Stanford, CA, USA); Brian G. Weinshenker (Mayo Clinic, Rochester, MN, USA); Dean M. Wingerchuk (Mayo Clinic, Scottsdale, AZ, USA); Jens Würfel (MIAC AG, Basel, Switzerland); Bassem Yamout (American University of Beirut Medical Center, Beirut, Lebanon); Michael R. Yeaman (University of California, Los Angeles, Los Angeles, CA, USA); Ann Yeh (Sick Kids Hospital, Toronto, Canada); and Scott Zamvil (University of California San Francisco, CA, USA).
Publisher Copyright:
© Copyright © 2020 Hor, Asgari, Nakashima, Broadley, Leite, Kissani, Jacob, Marignier, Weinshenker, Paul, Pittock, Palace, Wingerchuk, Behne, Yeaman and Fujihara.
PY - 2020/6/26
Y1 - 2020/6/26
N2 - Neuromyelitis optica spectrum disorder (NMOSD) is an uncommon inflammatory disease of the central nervous system, manifesting clinically as optic neuritis, myelitis, and certain brain and brainstem syndromes. Cases clinically diagnosed as NMOSD may include aquaporin 4 (AQP4)-antibody-seropositive autoimmune astrocytopathic disease, myelin oligodendrocyte glycoprotein (MOG)-antibody-seropositive inflammatory demyelinating disease, and double-seronegative disease. AQP4-antibody disease has a high female-to-male ratio (up to 9:1), and its mean age at onset of ~40 years is later than that seen in multiple sclerosis. For MOG-antibody disease, its gender ratio is closer to 1:1, and it is more common in children than in adults. Its clinical phenotypes differ but overlap with those of AQP4-antibody disease and include acute disseminated encephalomyelitis, brainstem and cerebral cortical encephalitis, as well as optic neuritis and myelitis. Double-seronegative disease requires further research and clarification. Population-based studies over the past two decades report the prevalence and incidence of NMOSD in different populations worldwide. One relevant finding is the varying prevalence observed in different racial groups. Consistently, the prevalence of NMOSD among Whites is ~1/100,000 population, with an annual incidence of <1/million population. Among East Asians, the prevalence is higher, at ~3.5/100,000 population, while the prevalence in Blacks may be up to 10/100,000 population. For MOG-antibody disease, hospital-based studies largely do not observe any significant racial preponderance so far. This disorder comprises a significant proportion of NMOSD cases that are AQP4-antibody-seronegative. A recent Dutch nationwide study reported the annual incidence of MOG-antibody disease as 1.6/million population (adult: 1.3/million, children: 3.1/million). Clinical and radiological differences between AQP4-antibody and MOG-antibody associated diseases have led to interest in the revisions of NMOSD definition and expanded stratification based on detection of a specific autoantibody biomarker. More population-based studies in different geographical regions and racial groups will be useful to further inform the prevalence and incidence of NMOSD and their antibody-specific subgroups. Accessibility to AQP4-antibody and MOG-antibody testing, which is limited in many centers, is a challenge to overcome. Environmental and genetic studies will be useful accompaniments to identify other potential pathogenetic factors and specific biomarkers in NMOSD.
AB - Neuromyelitis optica spectrum disorder (NMOSD) is an uncommon inflammatory disease of the central nervous system, manifesting clinically as optic neuritis, myelitis, and certain brain and brainstem syndromes. Cases clinically diagnosed as NMOSD may include aquaporin 4 (AQP4)-antibody-seropositive autoimmune astrocytopathic disease, myelin oligodendrocyte glycoprotein (MOG)-antibody-seropositive inflammatory demyelinating disease, and double-seronegative disease. AQP4-antibody disease has a high female-to-male ratio (up to 9:1), and its mean age at onset of ~40 years is later than that seen in multiple sclerosis. For MOG-antibody disease, its gender ratio is closer to 1:1, and it is more common in children than in adults. Its clinical phenotypes differ but overlap with those of AQP4-antibody disease and include acute disseminated encephalomyelitis, brainstem and cerebral cortical encephalitis, as well as optic neuritis and myelitis. Double-seronegative disease requires further research and clarification. Population-based studies over the past two decades report the prevalence and incidence of NMOSD in different populations worldwide. One relevant finding is the varying prevalence observed in different racial groups. Consistently, the prevalence of NMOSD among Whites is ~1/100,000 population, with an annual incidence of <1/million population. Among East Asians, the prevalence is higher, at ~3.5/100,000 population, while the prevalence in Blacks may be up to 10/100,000 population. For MOG-antibody disease, hospital-based studies largely do not observe any significant racial preponderance so far. This disorder comprises a significant proportion of NMOSD cases that are AQP4-antibody-seronegative. A recent Dutch nationwide study reported the annual incidence of MOG-antibody disease as 1.6/million population (adult: 1.3/million, children: 3.1/million). Clinical and radiological differences between AQP4-antibody and MOG-antibody associated diseases have led to interest in the revisions of NMOSD definition and expanded stratification based on detection of a specific autoantibody biomarker. More population-based studies in different geographical regions and racial groups will be useful to further inform the prevalence and incidence of NMOSD and their antibody-specific subgroups. Accessibility to AQP4-antibody and MOG-antibody testing, which is limited in many centers, is a challenge to overcome. Environmental and genetic studies will be useful accompaniments to identify other potential pathogenetic factors and specific biomarkers in NMOSD.
KW - AQP4
KW - MOG
KW - NMOSD
KW - epidemiology
KW - incidence
KW - neuromyelitis optica spectrum disorder
KW - population study
KW - prevalence
UR - http://www.scopus.com/inward/record.url?scp=85087739807&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85087739807&partnerID=8YFLogxK
U2 - 10.3389/fneur.2020.00501
DO - 10.3389/fneur.2020.00501
M3 - Review article
AN - SCOPUS:85087739807
SN - 1664-2295
VL - 11
JO - Frontiers in Neurology
JF - Frontiers in Neurology
M1 - 501
ER -