Differential diagnosis of demyelinating diseases: what's new?

Gomes, Ana Beatriz Ayroza Galvão Ribeiro; Adoni, Tarso

doi:10.1590/0004-282x-anp-2022-s109

Arq. Neuro-Psiquiatr.

2022

DOI: 10.1590/0004-282x-anp-2022-s109

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Differential diagnosis of demyelinating diseases: what's new?

Ana Beatriz Ayroza Galvão Ribeiro Gomes

Tarso Adoni

Abstract: Background: Acquired demyelinating disorders lead to overlapping visual, pyramidal, sensory, autonomic, and cerebellar deficits and may lead to severe disability. Early diagnosis and start of treatment are fundamental towards preventing further attacks and halting disability. Objective: In this paper we provide an updated overview of the differential diagnoses of acquired demyelinating disorders. Methods: We performed a critical targeted review of the diagnoses of the most prevalent demyelinating disorder… Show more

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Cited by 4 publications

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Delayed diagnosis of the neuromyelitis optica spectrum disorder

Dzhukkaeva,

Ermilova,

Nabiev

et al. 2023

RJTAO

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Neuromyelitis optica spectrum disorders (NMOSD) are a group of autoimmune inflammatory demyelinating diseases of the central nervous system. In 2015, International Expert Panel established diagnostic criteria for NMOSD. The majority of patients with NMOSD have aquaporin-4 autoantibody (AQP4-IgG). This case describes a 43-year-old woman who presented with weakness in her limbs followed by intractable vomiting. One year and 3 months later, she experienced acute visual impairment, which recurred several times. MRI of the spinal cord revealed a T2-hyperintense signal lesion at the cervical level extending over 4 vertebral segments. MRI of the brain showed involvement of the brainstem. AQP4-IgG was detected in her blood serum. It took 30 months from the onset of symptoms to establish the correct diagnosis. During this time, several incorrect diagnoses were made, including ischemic stroke, functional movement disorder and vertebrobasilar insufficiency. As a result of delayed diagnosis and treatment, the patient developed severe irreversible visual impairment. This case underscores the importance of early diagnosis and early treatment of NMOSD.

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Delayed diagnosis of the neuromyelitis optica spectrum disorder

Dzhukkaeva,

Ermilova,

Nabiev

et al. 2023

RJTAO

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Unraveling the Immunopathogenesis of Multiple Sclerosis: The Dynamic Dance of Plasmablasts and Pathogenic T Cells

Matsuzaka,

Yashiro

2023

Biologics

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Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease of the central nervous system, characterized by multiple lesions occurring temporally and spatially. Additionally, MS is a disease that predominates in the white population. In recent years, there has been a rapid increase in the number of patients, and it often occurs in young people, with an average age of onset of around 30 years old, but it can also occur in children and the elderly. It is more common in women than men, with a male-to-female ratio of approximately 1:3. As the immunopathogenesis of MS, a group of B cells called plasmablasts controls encephalomyelitis via IL-10 production. These IL-10-producing B cells, called regulatory B cells, suppress inflammatory responses in experimental mouse models of autoimmune diseases including MS. Since it has been clarified that these regulatory B cells are plasmablasts, it is expected that the artificial control of plasmablast differentiation will lead to the development of new treatments for MS. Among CD8-positive T cells in the peripheral blood, the proportion of PD-1-positive cells is decreased in MS patients compared with healthy controls. The dysfunction of inhibitory receptors expressed on T cells is known to be the core of MS immunopathology and may be the cause of chronic persistent inflammation. The PD-1+ CD8+ T cells may also serve as indicators that reflect the condition of each patient in other immunological neurological diseases such as MS. Th17 cells also regulate the development of various autoimmune diseases, including MS. Thus, the restoration of weakened immune regulatory functions may be a true disease-modifying treatment. So far, steroids and immunosuppressants have been the mainstream for autoimmune diseases, but the problem is that this kills not only pathogenic T cells, but also lymphocytes, which are necessary for the body. From this understanding of the immune regulation of MS, we can expect the development of therapeutic strategies that target only pathogenic immune cells.

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The Role of Microorganisms in the Etiopathogenesis of Demyelinating Diseases

Frau¹,

Coghe²,

Lorefice³

et al. 2023

Life

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Multiple sclerosis (MS), neuromyelitis optica (NMO) and myelin oligodendrocyte glycoprotein antibody disease (MOGAD) are inflammatory diseases of the central nervous system (CNS) with a multifactorial aetiology. Environmental factors are important for their development and microorganisms could play a determining role. They can directly damage the CNS, but their interaction with the immune system is even more important. The possible mechanisms involved include molecular mimicry, epitope spreading, bystander activation and the dual cell receptor theory. The role of Epstein–Barr virus (EBV) in MS has been definitely established, since being seropositive is a necessary condition for the onset of MS. EBV interacts with genetic and environmental factors, such as low levels of vitamin D and human endogenous retrovirus (HERV), another microorganism implicated in the disease. Many cases of onset or exacerbation of neuromyelitis optica spectrum disorder (NMOSD) have been described after infection with Mycobacterium tuberculosis, EBV and human immunodeficiency virus; however, no definite association with a virus has been found. A possible role has been suggested for Helicobacter pylori, in particular in individuals with aquaporin 4 antibodies. The onset of MOGAD could occur after an infection, mainly in the monophasic course of the disease. A role for the HERV in MOGAD has been hypothesized. In this review, we examined the current understanding of the involvement of infectious factors in MS, NMO and MOGAD. Our objective was to elucidate the roles of each microorganism in initiating the diseases and influencing their clinical progression. We aimed to discuss both the infectious factors that have a well-established role and those that have yielded conflicting results across various studies.

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Differential diagnosis of demyelinating diseases: what's new?

Cited by 4 publications

References 27 publications

Delayed diagnosis of the neuromyelitis optica spectrum disorder

Delayed diagnosis of the neuromyelitis optica spectrum disorder

Unraveling the Immunopathogenesis of Multiple Sclerosis: The Dynamic Dance of Plasmablasts and Pathogenic T Cells

The Role of Microorganisms in the Etiopathogenesis of Demyelinating Diseases

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