Epidemiology of myasthenia gravis in Northern Portugal: Frequency estimates and clinical epidemiological distribution of cases

Santos, Ernestina; Coutinho, Estér; Moreira, Inês; Silva, Ana Martins; Lopes, Diana; Costa, Henrique; Silveira, Fernando; Nadais, Goreti; Morais, H.; Martins, João; Branco, Maria Ceu; Veiga, Andreia; Silva, Rosa Santos; Ferreira, A. P.; Sousa, Filipa; Freijo, Marta; Matos, Ilda; André, Rui; Negrão, Luís; Fraga, Carla; Santos, Manuela M.; Sampaio, Mafalda; Lopes, Carlos; Leite, Maria Isabel; Gonçalves, Guilherme

doi:10.1002/mus.25068

Cited by 35 publications

(30 citation statements)

References 39 publications

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Section: Discussioncontrasting

confidence: 65%

“…6 Another study from the same country found the highest mortality rate ratio in women with late-onset MG compared with individuals from the general population. 26 This could be explained by a significantly older age at onset in women with MG in their cohort and possible higher frequency of comorbidities. This previous study included only patients with MG who were seropositive.…”

Section: Discussionmentioning

confidence: 99%

“…Our results revealed an average MG mortality rate of 1.76 per 1 million population for both sexes combined, which is higher than previously reported mortality rates in other countries. 2,8,25,26 In a systematic review of 8 epidemiological MG studies, reported mortality rates ranged from 0.06 to 0.89 per 1 million population per year. 2 In line with our results, mortality was significantly higher in Danish patients with MG, especially during the first 5 years after diagnosis, than in the general pupulation.…”

Section: Discussionmentioning

confidence: 99%

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Survival and mortality of adult‐onset myasthenia gravis in the population of Belgrade, Serbia

et al. 2018

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Section: Discussioncontrasting

confidence: 65%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Survival and mortality of adult‐onset myasthenia gravis in the population of Belgrade, Serbia

et al. 2018

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“…The estimated annual incidence is 1–2 per 100,000 and the prevalence is as high as 20–50 per 100,000 (2, 3). Recent epidemiological studies indicate that, like other autoimmune diseases, its incidence is rising considerably (4).…”

Section: Introductionmentioning

confidence: 99%

Dysregulation of B Cell Repertoire Formation in Myasthenia Gravis Patients Revealed through Deep Sequencing

Heiden

Stathopoulos

Zhou

et al. 2017

The Journal of Immunology

103

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Myasthenia gravis (MG) is a prototypical B cell-mediated autoimmune disease affecting 20–50 per 100,000 people. The majority of patients fall into two clinically distinguishable types based on whether they produce autoantibodies targeting the acetylcholine receptor (AChR-MG) or muscle specific kinase (MuSK-MG). The autoantibodies are pathogenic, but whether their generation is associated with broader defects in the B cell repertoire is unknown. To address this question, we performed deep sequencing of the B cell receptor repertoire of AChR-MG, MuSK-MG and healthy subjects to generate approximately 518,000 unique VH and VL sequences from sorted naïve and memory B cell populations. AChR-MG and MuSK-MG subjects displayed distinct gene segment usage biases in both VH and VL sequences within the naïve and memory compartments. The memory compartment of AChR-MG was further characterized by reduced positive selection of somatic mutations in the H-CDR regions and altered H-CDR3 physicochemical properties. The VL repertoire of MuSK-MG was specifically characterized by reduced V/J segment distance in recombined sequences, suggesting diminished VL receptor editing during B cell development. Our results identify large-scale abnormalities in both the naïve and memory B cell repertoires. Particular abnormalities were unique to either AChR-MG or MuSK-MG indicating that the repertoires reflect the distinct properties of the subtypes. These repertoire abnormalities are consistent with previously observed defects in B cell tolerance checkpoints in MG, thereby offering additional insight regarding the impact of tolerance defects on peripheral autoimmune repertoires. These collective findings point toward a deformed B cell repertoire as a fundamental component of MG.

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“…The disease is rare; the estimated annual incidence is 1-2 per 100,000, and the prevalence ranges from approximately 7-20 per 100,000, according to regional studies performed since 1990. [3][4][5] Recent epidemiological investigations have indicated that, similarly to other autoimmune diseases, the incidence of MG is rising considerably. 6 Such increases can be partially attributed to improved diagnostic precision and rising longevity of the populace, but a genuine rise in incidence may indicate the important role of environmental contributions.…”

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confidence: 99%

B cells in the pathophysiology of myasthenia gravis

et al. 2017

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Myasthenia gravis (MG) is an archetypal autoimmune disease. The pathology is characterized by autoantibodies to the acetylcholine receptor (AChR) in most patients or to muscle-specific tyrosine kinase (MuSK) in others and to a growing number of other postsynaptic proteins in smaller subsets. A decrease in the number of functional AChRs or functional interruption of the AChR within the muscle end plate of the neuromuscular junction is caused by pathogenic autoantibodies. Although the molecular immunology underpinning the pathology is well understood, much remains to be learned about the cellular immunology contributing to the production of autoantibodies. This Review documents research concerning the immunopathology of MG, bringing together evidence principally from human studies with an emphasis on the role of adaptive immunity and B cells in particular. Proposed mechanisms for autoimmunity, which take into account that different types of MG may incorporate divergent immunopathology, are offered. Muscle Nerve 57: 172-184, 2018.

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Epidemiology of myasthenia gravis in Northern Portugal: Frequency estimates and clinical epidemiological distribution of cases

Abstract: These figures are in keeping with similar studies and emphasize the importance of diagnosis and management of MG in elderly populations. Muscle Nerve 54: 413-421, 2016.

Cited by 35 publications

References 39 publications

Survival and mortality of adult‐onset myasthenia gravis in the population of Belgrade, Serbia

Survival and mortality of adult‐onset myasthenia gravis in the population of Belgrade, Serbia

Dysregulation of B Cell Repertoire Formation in Myasthenia Gravis Patients Revealed through Deep Sequencing

B cells in the pathophysiology of myasthenia gravis

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