Abstract
Objectives To approximate the rate of familial myasthenia gravis and the coexistence of other autoimmune disorders in the patients and their families. Design Retrospective cohort study. Setting Clinics across North America. Participants The study included 1032 patients diagnosed with acetylcholine receptor antibody (AChR)-positive myasthenia gravis. Methods Phenotype information of 1032 patients diagnosed with AChR-positive myasthenia gravis was obtained from clinics at 14 centres across North America between January 2010 and January 2011. A critical review of the epidemiological literature on the familial rate of myasthenia gravis was also performed. Results Among 1032 patients, 58 (5.6%) reported a family history of myasthenia gravis. A history of autoimmune diseases was present in 26.6% of patients and in 28.4% of their family members. Discussion The familial rate of myasthenia gravis was higher than would be expected for a sporadic disease. Furthermore, a high proportion of patients had a personal or family history of autoimmune disease. Taken together, these findings suggest a genetic contribution to the pathogenesis of myasthenia gravis.
| Original language | English |
|---|---|
| Article number | e037909 |
| Journal | BMJ Open |
| Volume | 10 |
| Issue number | 9 |
| DOIs | |
| Publication status | Published - Sep 18 2020 |
Keywords
- epidemiology
- genetics
- neurogenetics
- neurology
- neuromuscular disease
ASJC Scopus subject areas
- Medicine(all)
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Epidemiological evidence for a hereditary contribution to myasthenia gravis : A retrospective cohort study of patients from North America. / Green, Joshua D.; Barohn, Richard J.; Bartoccion, Emanuela; Benatar, Michael; Blackmore, Derrick; Chaudhry, Vinay; Chopra, Manisha; Corse, Andrea; DImachkie, Mazen M.; Evoli, Amelia; Florence, Julaine; Freimer, Miriam; Howard, James F.; Jiwa, Theresa; Kaminski, Henry J.; Kissel, John T.; Koopman, Wilma J.; Lipscomb, Bernadette; Maestri, Michelanglo; Marino, Mariapaola; Massey, Janice M.; McVey, April; Mezei, Michelle M.; Muppidi, Srikanth; Nicolle, Michael W.; Oger, Joel; Pascuzzi, Robert M.; Pasnoor, Mamatha; Pestronk, Alan; Provenzano, Carlo; Ricciardi, Roberta; Richman, David P.; Rowin, Julie; Sanders, Donald B.; Siddiqi, Zaeem; Soloway, Aimee; Wolfe, Gil I.; Wulf, Charlie; Drachman, Daniel B.; Traynor, Bryan J.
In: BMJ Open, Vol. 10, No. 9, e037909, 18.09.2020.Research output: Contribution to journal › Article › peer-review
}
TY - JOUR
T1 - Epidemiological evidence for a hereditary contribution to myasthenia gravis
T2 - A retrospective cohort study of patients from North America
AU - Green, Joshua D.
AU - Barohn, Richard J.
AU - Bartoccion, Emanuela
AU - Benatar, Michael
AU - Blackmore, Derrick
AU - Chaudhry, Vinay
AU - Chopra, Manisha
AU - Corse, Andrea
AU - DImachkie, Mazen M.
AU - Evoli, Amelia
AU - Florence, Julaine
AU - Freimer, Miriam
AU - Howard, James F.
AU - Jiwa, Theresa
AU - Kaminski, Henry J.
AU - Kissel, John T.
AU - Koopman, Wilma J.
AU - Lipscomb, Bernadette
AU - Maestri, Michelanglo
AU - Marino, Mariapaola
AU - Massey, Janice M.
AU - McVey, April
AU - Mezei, Michelle M.
AU - Muppidi, Srikanth
AU - Nicolle, Michael W.
AU - Oger, Joel
AU - Pascuzzi, Robert M.
AU - Pasnoor, Mamatha
AU - Pestronk, Alan
AU - Provenzano, Carlo
AU - Ricciardi, Roberta
AU - Richman, David P.
AU - Rowin, Julie
AU - Sanders, Donald B.
AU - Siddiqi, Zaeem
AU - Soloway, Aimee
AU - Wolfe, Gil I.
AU - Wulf, Charlie
AU - Drachman, Daniel B.
AU - Traynor, Bryan J.
N1 - Funding Information: Disclaimer The funders had no role in the design and conduct of the study; collection, management, analysis and interpretation of the data; preparation, review or approval of the manuscript and decision to submit the manuscript for publication. Competing interests RJB served as a consultant for NuFactor and Momenta Pharmaceutical and receives research support from PTC Therapeutics, Ra Pharma, Orphazyme, Sanofi Genzyme, FDA OOPD, NIH and PCORI. MB reports grant support from Muscular Dystrophy Association, ALS Association, ALS Recovery Fund, Kimmelman Estate, Target ALS, Eli Lilly & Company and the National Institutes of Health (NIH) during the conduct of the study. He also reports grant support from FDA, CDC and DOD; research support from Alexion Pharmaceuticals, UCB, Cytokinetics, Neuraltus, Biogen and Orphazyme A/S; and personal fees from NMD Pharma, Ra Pharmaceuticals, Mitsubishi-Tanabe, Avexis, UCB and Denali outside the submitted work. VC served as a consultant for review and expert testimony for the Department of Health and Human Services and the Department of Justice under the Vaccine Injury and Compensation Program. Dr Chaudhry has received royalty for total neuropathy score (TNS) patented (through Johns Hopkins University) for license of TNS use from AstraZeneca, Genentech, Seattle Genetics, Calithera Biosciences, Merrimack Pharmaceuticals, Levicept, and Acetylon Pharmaceuticals. MMD serves or recently served as a consultant for ArgenX, Catalyst, CSL-Behring, Kezar, Momenta, NuFactor, RMS Medical, Sanofi Genzyme, Shire Takeda, and Spark Therapeutics. Dr Dimachkie received grants from Alexion, Alnylam Pharmaceuticals, Amicus, Biomarin, Bristol-Myers Squibb, Catalyst, CSL-Behring, FDA/OOPD, GlaxoSmithKline, Genentech, Grifols, Mitsubishi Tanabe Pharma, MDA, NIH, Novartis, Sanofi Genzyme, Octapharma, Orphazyme, Sarepta Therapeutics, Shire Takeda, Spark, UCB Biopharma, Viromed & TMA. AE was a member of the advisory board for Alexion, a scientific award jury member for Grifols and safety data monitor for UCB. MF has received honoraria for serving on advisory boards for ARGNX pharma, Alexion. MF also has research support from Catalyst, Ra pharma, Amicus, Orphazyme, Alexion, Momenta and Alnylam. JFH reports research support and grants from Alexion Pharmaceuticals, argenx BVBA, Centers for Disease Control and Prevention, Muscular Dystrophy Association, NIH (including the National Institute of Neurologic Disorders and Stroke and the National Institute of Arthritis and Musculoskeletal and Skin Disease), PCORI (Patient-Centered Outcomes Research Institute) and Ra Pharmaceuticals; and nonfinancial support from Alexion Pharmaceuticals, argenx BVBA, Ra Pharmaceuticals and Toleranzia. HJK is funded by the Muscular Dystrophy Association (508240) and by NIH grant U54NS115054; is a consultant for Alnylam Pharmaceuticals, Ra Pharmaceuticals, and UCB Pharmaceuticals; and is CEO of ARC Biotechnology, LLC, which receives support from the NIH (R41NS110331). He serves on the Editorial Board of Experimental Neurology. MMe has received honoraria as a speaker and/or moderator from Alnylam, Akcea, Pfizer and CSL Behring. She has served on Advisory Boards for Pfizer, Alnylam and Akcea. She serves as an investigator for clinical trials with Alnylam and Biogen. SM has served on advisory board meetings for Alexion and argenx. MP served on advisory board for CSL Behring, Alexion pharmaceuticals, Argenx Pharmaceuticals and has been consultant for Momenta Pharmaceuticals. DPR receives research funding from a Sponsored Research Agreement from Cabaletta Bioscience. BJT holds an American and European Union patent on the clinical testing and therapeutic intervention for the hexanucleotide repeat expansion of C9orf72, and has received research grants from The Myasthenia Gravis Foundation, the Robert Packard Center for ALS Research, the ALS Association (ALSA), the Italian Football Federation (FIGC), the Center for Disease Control and Prevention (CDC), the Muscular Dystrophy Association (MDA), Merck and Microsoft Research. BJT receives funding through the Intramural Research Program at the National Institutes of Health. Funding Information: Funding Study funding by the National Institutes of Health Intramural Research Program. The work was also supported by the Myasthenia Gravis Foundation (Drs Drachman and Traynor), a generous bequest by Geraldine Weinrib, and a gift from Philip Swift. Support was provided by Mr and Mrs Don Brandon and the Department of Neurology, University of Kansas Medical Center. Publisher Copyright: © 2020 BioMed Central Ltd.. All rights reserved. Copyright: Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020/9/18
Y1 - 2020/9/18
N2 - Objectives To approximate the rate of familial myasthenia gravis and the coexistence of other autoimmune disorders in the patients and their families. Design Retrospective cohort study. Setting Clinics across North America. Participants The study included 1032 patients diagnosed with acetylcholine receptor antibody (AChR)-positive myasthenia gravis. Methods Phenotype information of 1032 patients diagnosed with AChR-positive myasthenia gravis was obtained from clinics at 14 centres across North America between January 2010 and January 2011. A critical review of the epidemiological literature on the familial rate of myasthenia gravis was also performed. Results Among 1032 patients, 58 (5.6%) reported a family history of myasthenia gravis. A history of autoimmune diseases was present in 26.6% of patients and in 28.4% of their family members. Discussion The familial rate of myasthenia gravis was higher than would be expected for a sporadic disease. Furthermore, a high proportion of patients had a personal or family history of autoimmune disease. Taken together, these findings suggest a genetic contribution to the pathogenesis of myasthenia gravis.
AB - Objectives To approximate the rate of familial myasthenia gravis and the coexistence of other autoimmune disorders in the patients and their families. Design Retrospective cohort study. Setting Clinics across North America. Participants The study included 1032 patients diagnosed with acetylcholine receptor antibody (AChR)-positive myasthenia gravis. Methods Phenotype information of 1032 patients diagnosed with AChR-positive myasthenia gravis was obtained from clinics at 14 centres across North America between January 2010 and January 2011. A critical review of the epidemiological literature on the familial rate of myasthenia gravis was also performed. Results Among 1032 patients, 58 (5.6%) reported a family history of myasthenia gravis. A history of autoimmune diseases was present in 26.6% of patients and in 28.4% of their family members. Discussion The familial rate of myasthenia gravis was higher than would be expected for a sporadic disease. Furthermore, a high proportion of patients had a personal or family history of autoimmune disease. Taken together, these findings suggest a genetic contribution to the pathogenesis of myasthenia gravis.
KW - epidemiology
KW - genetics
KW - neurogenetics
KW - neurology
KW - neuromuscular disease
UR - http://www.scopus.com/inward/record.url?scp=85091324212&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85091324212&partnerID=8YFLogxK
U2 - 10.1136/bmjopen-2020-037909
DO - 10.1136/bmjopen-2020-037909
M3 - Article
C2 - 32948566
AN - SCOPUS:85091324212
VL - 10
JO - BMJ Open
JF - BMJ Open
SN - 2044-6055
IS - 9
M1 - e037909
ER -