Familial forms of multiple sclerosis and neuromyelitis optica at an MS center in Rio de Janeiro State, Brazil

Papais-Alvarenga, Regina María; Pereira, Fernanda; Bernardes, Melina S.; Papais-Alvarenga, Marcos; Batista, Elizabeth; Paiva, Cláudia N.; Santos, Claudia Miranda; Vasconcelos, Cláudia Cristina Ferreira

doi:10.1016/j.jns.2015.06.034

Cited by 24 publications

(15 citation statements)

References 49 publications

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“…The percentage of familial recurrence cases in this study is two times higher than that reported in Brazil (6.12%) [ 43 ], four times greater than Mexico (3%) [ 21 ] and six times higher than Hungary (2%) [ 20 ].…”

Section: Discussioncontrasting

confidence: 63%

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Increasing prevalence of familial recurrence of multiple sclerosis in Iran: a population based study of Tehran registry 1999–2015

et al. 2018

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BackgroundTehran is the capital of Iran with an increasing multiple sclerosis (MS) prevalence. A retrospective population-based study was conducted to evaluate the trends of MS prevalence in Tehran.MethodsA population-based survey was conducted for the period 1999 to 2015, based on Iranian MS Society (IMSS) registry system of Tehran, the capital city of Iran. Point regression analysis was applied on MS trend data to find annual percent change (APC).The logistic regression analysis was used to estimate the odds ratio (OR) for individual variables in order to assess factors associating with familial recurrence of MS. P values < 0.05 were considered significant.ResultsMS prevalence has significantly increased during the study period from 1999 to 2015 (56.22 per 100,000). Total point prevalence of MS was 115.94 per 100,000 persons in 2015 compared to general population. Positive family history of MS was observed among 12.4% of patients. The strongest association amongst first-degree relatives was found in siblings, p value ≤ 0.001.ConclusionMS prevalence is rising in Tehran and this city is one of the regions with highest MS prevalence in Asia. In this sample, the largest proportion of relatives with MS were found among first-degree relatives, particularly siblings. Familial recurrence correlated with relative type.

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Section: Discussioncontrasting

confidence: 63%

“…The amount of the familial recurrence of MS was larger among first-degree relatives, especially in siblings [ 43 ]. This finding was similar to the findings about autism among siblings [ 48 ].…”

Section: Discussionmentioning

confidence: 99%

Increasing prevalence of familial recurrence of multiple sclerosis in Iran: a population based study of Tehran registry 1999–2015

et al. 2018

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“…Some researchers have suggested that AP is present in familial forms of AID (Fresko et al., ; Giardino et al., ; McDermott, Khan, & Deighton, ; Picco, Goodman, Reed, & Bayless, ). This phenomenon has also been described in familial optic neuromyelitis (Kavoussi & Lesser, ) and in various series of patients with MS (Papais‐Alvarenga et al., ; Romero‐Pinel et al., ). While AP in MS cannot be explained by known mechanisms, it might be hypothesized that it is related to epigenetic factors (Nilbert, Timshel, Bernstein, & Larsen, ).…”

Section: Discussionsupporting

confidence: 53%

Familial multiple sclerosis and association with other autoimmune diseases

et al. 2017

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ObjectivesAutoimmune diseases (AID) follow a complex, probably polygenic, pattern of inheritance and often cluster in families of patients with multiple sclerosis (MS). Our objective was to analyze family patterns and characteristics in families including more than one patient with MS.Materials and MethodsWe analyzed personal and family history of neurological, systemic, and autoimmune diseases in 84 MS patients from 40 different families. Families were classified in two groups: families with cases of MS in at least two different generations (15 families) and families in which cases of MS belonged to only one generation (25 families).ResultsThe two previously established groups presented different clinical patterns and frequency of association with another AID. In one group, the second generation displayed a higher annual relapse rate than the first generation, higher frequency of progressive forms of MS, and more patients with another AID in addition to MS. Relapsing‐remitting forms of MS (RRMS) were more frequent in the other group.ConclusionsFamilies that include more than one MS patient may show two distinct patterns. This finding seems important for the compression and analysis of genetic information on MS.

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“…The frequency of familial MG in general patients is approximately 3–4% ( 40 , 41 ), and the concordance between monozygotic MG twins is approximately 35% ( 42 ), both of these values are higher than the prevalence of 15–25/100,000 in the general population. Similarly, two studies reported a frequency of familial occurrence of NMOSD of approximately 3% ( 43 , 44 ), which is greater than the prevalence of 0.52–4.4/100,000 in the general population. Based on these findings, genetic factors are likely to be involved in the susceptibility to both MG and NMOSD.…”

Section: Inherited Susceptibilitymentioning

confidence: 92%

Immunopathogenesis in Myasthenia Gravis and Neuromyelitis Optica

Wang

Yan

2017

Front. Immunol.

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Myasthenia gravis (MG) and neuromyelitis optica (NMO) are autoimmune channelopathies of the peripheral neuromuscular junction (NMJ) and central nervous system (CNS) that are mainly mediated by humoral immunity against the acetylcholine receptor (AChR) and aquaporin-4 (AQP4), respectively. The diseases share some common features, including genetic predispositions, environmental factors, the breakdown of tolerance, the collaboration of T cells and B cells, imbalances in T helper 1 (Th1)/Th2/Th17/regulatory T cells, aberrant cytokine and antibody secretion, and complement system activation. However, some aspects of the immune mechanisms are unique. Both targets (AChR and AQP4) are expressed in the periphery and CNS, but MG mainly affects the NMJ in the periphery outside of CNS, whereas NMO preferentially involves the CNS. Inflammatory cells, including B cells and macrophages, often infiltrate the thymus but not the target—muscle in MG, whereas the infiltration of inflammatory cells, mainly polymorphonuclear leukocytes and macrophages, in NMO, is always observed in the target organ—the spinal cord. A review of the common and discrepant characteristics of these two autoimmune channelopathies may expand our understanding of the pathogenic mechanism of both disorders and assist in the development of proper treatments in the future.

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Familial forms of multiple sclerosis and neuromyelitis optica at an MS center in Rio de Janeiro State, Brazil

Cited by 24 publications

References 49 publications

Increasing prevalence of familial recurrence of multiple sclerosis in Iran: a population based study of Tehran registry 1999–2015

Increasing prevalence of familial recurrence of multiple sclerosis in Iran: a population based study of Tehran registry 1999–2015

Familial multiple sclerosis and association with other autoimmune diseases

Immunopathogenesis in Myasthenia Gravis and Neuromyelitis Optica

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