Seropositive Myasthenia Gravis: A Nationwide Epidemiologic Study

Heldal, Anne Taraldsen; Owe, Jone Furulund; Gilhus, Nils Erik; Romi, Fredrik

doi:10.1212/wnl.0b013e3181ad53c2

Cited by 117 publications

(101 citation statements)

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“…Age of MG debut differs between males and females. Male disease onset peaks around 60-70 years, while female disease onset is bimodal with one peak around 20-30 years and one peak around 60-70 years (14,16,33,34). Females who terminate drug treatment during pregnancy may have caused bias in estimates of MG incidence for early-onset females in the NorPD.…”

Section: Discussionmentioning

confidence: 99%

“…The first study calculated a nationwide prevalence and incidence rate (14). The second study examined the geographical variation of seropositive MG in Norway, trying to identify predisposing disease factors (15).…”

Section: Aad and The Reference Cohortmentioning

confidence: 99%

“…Nationwide registries covering whole populations are emerging, providing a sound basis for epidemiological studies (11)(12)(13). The AChR antibody database (AAD) and the Norwegian Prescription Database (NorPD) have been utilized by our research group to elucidate the epidemiology of MG in a complete national cohort (14)(15)(16) (17)(18)(19). Use of pyridostigmine is therefore considered a reliable indicator of MG requiring symptomatic treatment (16,20,21).…”

Section: Introductionmentioning

confidence: 99%

“…Use of pyridostigmine is therefore considered a reliable indicator of MG requiring symptomatic treatment (16,20,21). Three studies with reports on MG prevalence and incidence have until now been published based on these two databases (14)(15)(16).…”

Section: Introductionmentioning

confidence: 99%

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Myasthenia gravis epidemiology in a national cohort; combining multiple disease registries

et al. 2014

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Section: Discussionmentioning

confidence: 99%

Section: Aad and The Reference Cohortmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Myasthenia gravis epidemiology in a national cohort; combining multiple disease registries

et al. 2014

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“…A MG tem prevalência de 40 a 180 por milhão de pessoas e incidência anual de 4 a 12 por milhão de pessoas, com distribuição bimodal relacionada com a idade (Heldal et al, 2009;Andersen et al, 2010;Carr et al, 2010 (Oosterhuis, 1989;Drachman, 1994;Vincent et al, 2001;Keesey 2004). Aproximadamente 10% a 20% dos pacientes com MG apresentam timoma, e tipicamente esses pacientes apresentam fraqueza generalizada e ac-AChR positivo (Keesey, 2004;Marx et al, 2013).…”

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Análise do jitter com agulha concêntrica em pacientes com miastenia gravis autoimune adquirida

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Genomic Insights into Myasthenia Gravis Identify Distinct Immunological Mechanisms in Early and Late Onset Disease

Handunnetthi

Knezevic

Kasela

et al. 2021

Annals of Neurology

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Objective The purpose of this study was to identify disease relevant genes and explore underlying immunological mechanisms that contribute to early and late onset forms of myasthenia gravis. Methods We used a novel genomic methodology to integrate genomewide association study (GWAS) findings in myasthenia gravis with cell‐type specific information, such as gene expression patterns and promotor‐enhancer interactions, in order to identify disease‐relevant genes. Subsequently, we conducted additional genomic investigations, including an expression quantitative analysis of 313 healthy people to provide mechanistic insights. Results We identified several genes that were specifically linked to early onset myasthenia gravis including TNIP1, ORMDL3, GSDMB, and TRAF3. We showed that regulators of toll‐like receptor 4 signaling were enriched among these early onset disease genes (fold enrichment = 3.85, p = 6.4 × 10−3). In contrast, T‐cell regulators CD28 and CTLA4 were exclusively linked to late onset disease. We identified 2 causal genetic variants (rs231770 and rs231735; posterior probability = 0.98 and 0.91) near the CTLA4 gene. Subsequently, we demonstrated that these causal variants result in low expression of CTLA4 (rho = −0.66, p = 1.28 × 10−38 and rho = −0.52, p = 7.01 × 10−22, for rs231735 and rs231770, respectively). Interpretation The disease‐relevant genes identified in this study are a unique resource for many disciplines, including clinicians, scientists, and the pharmaceutical industry. The distinct immunological pathways linked to early and late onset myasthenia gravis carry important implications for drug repurposing opportunities and for future studies of drug development. ANN NEUROL 2021;90:455–463

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Seropositive Myasthenia Gravis: A Nationwide Epidemiologic Study

Cited by 117 publications

References 6 publications

Myasthenia gravis epidemiology in a national cohort; combining multiple disease registries

Myasthenia gravis epidemiology in a national cohort; combining multiple disease registries

Análise do jitter com agulha concêntrica em pacientes com miastenia gravis autoimune adquirida

Genomic Insights into Myasthenia Gravis Identify Distinct Immunological Mechanisms in Early and Late Onset Disease

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