scholarly journals Familial Multiple Sclerosis in a Mother and Son Pair: A Sri Lankan and a South Asian First

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Ishani Rajapakshe ◽  
Bimsara Senanayake
Keyword(s):  
Multiple Sclerosis ◽  
Viral Infections ◽  
Oligoclonal Bands ◽  
Sri Lankan ◽  
Sister Relationship ◽  
Radiological Criteria ◽  
Young Females ◽  
Immune Mediated ◽  
Genetic Mechanisms ◽  
The Central Nervous System

Multiple sclerosis (MS) is an immune-mediated demyelinating disorder involving the central nervous system (CNS). It is common amongst young females. Although the exact cause of MS is yet unknown, viral infections such as EBV, environmental factors, and autoimmune and genetic mechanisms involving HLA-DRB1 loci are implicated. Familial MS is reported from some geographic locations and ethnic groups but is thought to be rare in Asia. In this paper, we present both a Sri Lankan mother and her son, with clinically definite MS conforming to McDonald’s 2017 clinical and MAGNIMS 2016 radiological criteria. Both had oligoclonal bands in their CSF (OCB-IEF) with no serum bands indicating intrathecal production and were negative for AQP4 and MOG IgG serology. Familial MS is more common among siblings, with sister-sister relationship having the highest rate. The lowest relation was amongst father-son and mother-son pairs. Amongst siblings, the risk of MS is between 3.5% and 4.7%. Inherited factors rather than common environmental exposure influence susceptibility in such cases. To the best of our knowledge, MS occurring in a mother-son pair has not been reported before either from Sri Lanka or South Asia.

scholarly journals GDP-l-fucose synthase is a CD4+ T cell–specific autoantigen in DRB3*02:02 patients with multiple sclerosis

2018 ◽  
Vol 10 (462) ◽  
pp. eaat4301 ◽  
Author(s):  
Raquel Planas ◽  
Radleigh Santos ◽  
Paula Tomas-Ojer ◽  
Carolina Cruciani ◽  
Andreas Lutterotti ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
T Cell ◽  
Cell Clone ◽  
Autoimmune Response ◽  
Guanosine Diphosphate ◽  
Immune Mediated ◽  
T Cell Clone ◽  
Positional Scanning ◽  
The Central Nervous System

Multiple sclerosis is an immune-mediated autoimmune disease of the central nervous system that develops in genetically susceptible individuals and likely requires environmental triggers. The autoantigens and molecular mimics triggering the autoimmune response in multiple sclerosis remain incompletely understood. By using a brain-infiltrating CD4+ T cell clone that is clonally expanded in multiple sclerosis brain lesions and a systematic approach for the identification of its target antigens, positional scanning peptide libraries in combination with biometrical analysis, we have identified guanosine diphosphate (GDP)–l-fucose synthase as an autoantigen that is recognized by cerebrospinal fluid–infiltrating CD4+ T cells from HLA-DRB3*–positive patients. Significant associations were found between reactivity to GDP-l-fucose synthase peptides and DRB3*02:02 expression, along with reactivity against an immunodominant myelin basic protein peptide. These results, coupled with the cross-recognition of homologous peptides from gut microbiota, suggest a possible role of this antigen as an inducer or driver of pathogenic autoimmune responses in multiple sclerosis.

Infections of the Central Nervous System

2013 ◽  
pp. 114-127
Author(s):  
Françoise Gray ◽  
Kum Thong Wong ◽  
Francesco Scaravilli ◽  
Leroy R. Sharer
Keyword(s):  
Human Immunodeficiency Virus ◽  
Viral Infections ◽  
Opportunistic Infections ◽  
Parasitic Infections ◽  
System P ◽  
Immune Mediated ◽  
Wide Range ◽  
Immunodeficiency Virus ◽  
The Central Nervous System ◽  
Specific Agent

This chapter describes and illustrates the different lesions observed in CNS infections. A wide variety of pathogenic infectious organisms may affect the CNS. They can be classified as “pathogenic” (causing disease in every individual) or “opportunistic” (affecting only patients with immunodeficiency). Bacteria may cause pyogenic infections or so-called “specific infections,” in which the morphology of the lesions is suggestive of a specific agent. Mycoses and parasitic infections used to be uncommon, restricted to certain countries; however, due to increasing incidence of immunodeficiency conditions and intercontinental travel, they are now more frequently encountered. Viral infections of the CNS cause nonspecific lesions due to immune-mediated reactions or more specific encephalitides. In AIDS, infection by the human immunodeficiency virus causes a unique encephalitis and immunodeficiency with a wide range of secondary opportunistic infections.

Immune and Infectious Diseases

2018 ◽  
pp. 430-470
Author(s):  
Andrea C. Adams
Keyword(s):  
Multiple Sclerosis ◽  
Central Nervous System ◽  
Nervous System ◽  
Young People ◽  
Connective Tissue ◽  
Infectious Diseases ◽  
Temporal Profile ◽  
Immune Mediated ◽  
The Central Nervous System ◽  
The Common

Many immune-mediated diseases and infections affect the central and peripheral nervous systems. The common feature that characterizes both immune-mediated diseases and infections is a subacute temporal profile. Immune-mediated disease can affect only the nervous system or involve the nervous system as part of a systemic illness, as in vasculitis and connective tissue disease. Multiple sclerosis (MS), the most common disabling neurologic illness of young people, is the prototypical immune-mediated disease of the central nervous system (CNS).

scholarly journals Cognitive Impairment in Multiple Sclerosis

Folia Medica ◽  
2016 ◽  
Vol 58 (3) ◽  
pp. 157-163 ◽  
Author(s):  
Anastasiya G. Trenova ◽  
Georgi S. Slavov ◽  
Maria G. Manova ◽  
Jana B. Aksentieva ◽  
Lyuba D. Miteva ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Cognitive Impairment ◽  
Cognitive Disorders ◽  
Social Burden ◽  
Immune Mediated ◽  
The Social ◽  
The Central Nervous System ◽  
Axonal Transection ◽  
The Relationship

Abstract Multiple sclerosis (MS) is a socially significant immune-mediated disease, characterized by demyelination, axonal transection and oligodendropathy in the central nervous system. Inflammatory demyelination and neurodegeneration lead to brain atrophy and cognitive deficit in up to 75% of the patients. Cognitive dysfunctions impact significantly patients’ quality of life, independently from the course and phase of the disease. The relationship between pathological brain findings and cognitive impairment is a subject of intensive research. Summarizing recent data about prevalence, clinical specificity and treatment of cognitive disorders in MS, this review aims to motivate the necessity of early diagnosis and complex therapeutic approach to these disturbances in order to reduce the social burden of the disease.

Rituximab in patients with pediatric multiple sclerosis and other demyelinating disorders of the CNS: Practical considerations

2020 ◽  
pp. 135245852093279 ◽  
Author(s):  
Angelo Ghezzi ◽  
Brenda Banwell ◽  
Amit Bar-Or ◽  
Tanuja Chitnis ◽  
Russell C Dale ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Pediatric Patients ◽  
Neurological Diseases ◽  
Duration Of Treatment ◽  
Pediatric Multiple Sclerosis ◽  
Immune Mediated ◽  
The Central Nervous System ◽  
Anti Cd20 ◽  
Demyelinating Disorders

Anti-CD20 therapies have established efficacy in the treatment of immune-mediated neurological and non-neurological diseases. Rituximab, one of the first B-cell-directed therapies, is relatively inexpensive compared to newer anti-CD20 molecules, is available in many countries, and has been used off-label in pediatric patients with neuroimmune conditions. The objective of this paper is to describe the experience with rituximab in pediatric multiple sclerosis and other inflammatory immune-mediated disorders of the central nervous system (CNS), and to define a protocol for its use in clinical practice, in particular addressing doses, interval of administration, duration of treatment, and tests to perform at baseline and during follow-up.

scholarly journals CD56bright Natural Killer Cells: A Possible Biomarker of Different Treatments in Multiple Sclerosis

2020 ◽  
Vol 9 (5) ◽  
pp. 1450 ◽  
Author(s):  
Alice Laroni ◽  
Antonio Uccelli
Keyword(s):  
Multiple Sclerosis ◽  
Nk Cells ◽  
Natural Killer ◽  
Dimethyl Fumarate ◽  
Regulatory Function ◽  
Clinical Activity ◽  
Hematopoietic Stem ◽  
Immune Mediated ◽  
The Central Nervous System ◽  
Magnetic Resonance Imaging Mri

Multiple sclerosis (MS) is an immune-mediated disease of the central nervous system, which leads, in many cases, to irreversible disability. More than 15 disease-modifying treatments (DMTs) are available for the treatment of MS. Clinical activity or activity at magnetic resonance imaging (MRI) are now used to assess the efficacy of DMTs, but are negative prognostic factors per se. Therefore, a biomarker permitting us to identify patients who respond to treatment before they develop clinical/radiological signs of MS activity would be of high importance. The number of circulating CD56bright natural killer (NK) cells may be such a biomarker. CD56bright NK cells are a regulatory immune population belonging to the innate immune system. The number of CD56bright NK cells increases upon treatment with interferon-beta, alemtuzumab, dimethyl fumarate, after autologous hematopoietic stem cell transplantation, and is higher in those who respond to fingolimod. In some cases, an increased number of CD56bright NK cells is associated with an increase in their regulatory function. In the current review, we will evaluate the known effect on CD56bright NK cells of DMTs for MS, and will discuss their possible role as a biomarker for treatment response in MS.

scholarly journals A computational approach based on the colored Petri net formalism for studying multiple sclerosis

2019 ◽  
Vol 20 (S6) ◽  
Author(s):  
Simone Pernice ◽  
Marzio Pennisi ◽  
Greta Romano ◽  
Alessandro Maglione ◽  
Santina Cutrupi ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Pregnant Women ◽  
Petri Net ◽  
Interleukin 2 ◽  
Latin Hypercube Sampling ◽  
Interesting Case ◽  
Serious Adverse Events ◽  
Immune Mediated ◽  
The Central Nervous System ◽  
Relapsing Remitting Multiple Sclerosis

Abstract Background Multiple Sclerosis (MS) is an immune-mediated inflammatory disease of the Central Nervous System (CNS) which damages the myelin sheath enveloping nerve cells thus causing severe physical disability in patients. Relapsing Remitting Multiple Sclerosis (RRMS) is one of the most common form of MS in adults and is characterized by a series of neurologic symptoms, followed by periods of remission. Recently, many treatments were proposed and studied to contrast the RRMS progression. Among these drugs, daclizumab (commercial name Zinbryta), an antibody tailored against the Interleukin-2 receptor of T cells, exhibited promising results, but its efficacy was accompanied by an increased frequency of serious adverse events. Manifested side effects consisted of infections, encephalitis, and liver damages. Therefore daclizumab has been withdrawn from the market worldwide. Another interesting case of RRMS regards its progression in pregnant women where a smaller incidence of relapses until the delivery has been observed. Results In this paper we propose a new methodology for studying RRMS, which we implemented in GreatSPN, a state-of-the-art open-source suite for modelling and analyzing complex systems through the Petri Net (PN) formalism. This methodology exploits: (a) an extended Colored PN formalism to provide a compact graphical description of the system and to automatically derive a set of ODEs encoding the system dynamics and (b) the Latin Hypercube Sampling with PRCC index to calibrate ODE parameters for reproducing the real behaviours in healthy and MS subjects.To show the effectiveness of such methodology a model of RRMS has been constructed and studied. Two different scenarios of RRMS were thus considered. In the former scenario the effect of the daclizumab administration is investigated, while in the latter one RRMS was studied in pregnant women. Conclusions We propose a new computational methodology to study RRMS disease. Moreover, we show that model generated and calibrated according to this methodology is able to reproduce the expected behaviours.

Disappearance of cerebrospinal fluid oligoclonal bands after natalizumab treatment of multiple sclerosis patients

2011 ◽  
Vol 18 (7) ◽  
pp. 1038-1041 ◽  
Author(s):  
Felipe von Glehn ◽  
Alessandro S Farias ◽  
Augusto C Penalva de Oliveira ◽  
Alfredo Damasceno ◽  
Ana Leda F Longhini ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Central Nervous System ◽  
Cerebrospinal Fluid ◽  
Nervous System ◽  
Oligoclonal Bands ◽  
Natalizumab Treatment ◽  
The Central Nervous System ◽  
Immunologic Abnormality ◽  
Csf Oligoclonal Bands ◽  
Multiple Sclerosis Patients

Intrathecal immunoglobulin synthesis in an oligoclonal pattern is the most common immunologic abnormality detected in MS patients. Various treatments, such as immunomodulators and immunosuppressors, have not been found to modify it. Natalizumab hinders migration of encephalitogenic T-cells into the central nervous system (CNS), reducing inflammatory response. Its impact on CSF oligoclonal bands (OCBs) has not been demonstrated. This report describes its effect in four out of six patients with multiple sclerosis after a mean of 10 infusions: the CSF was negative for OCBs at the second lumbar puncture. In conclusion, natalizumab treatment can reduce CSF OCBs to undetectable levels, although the clinical significance of this observation is not yet known.

A case of immune-mediated encephalitis related to daclizumab therapy

2018 ◽  
Vol 25 (5) ◽  
pp. 750-753 ◽  
Author(s):  
Michael Devlin ◽  
Andrew Swayne ◽  
Martin Newman ◽  
Cullen O’Gorman ◽  
Helen Brown ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Adverse Reactions ◽  
Brain Biopsy ◽  
Disease Modifying Therapy ◽  
Immune Mediated ◽  
Relapsing Remitting ◽  
The Central Nervous System ◽  
Disease Modifying ◽  
Relapsing Remitting Multiple Sclerosis ◽  
Csf Examination

This report will detail a case of immune-mediated encephalitis in the context of daclizumab therapy. Daclizumab is a humanised monoclonal antibody which, prior to its recent worldwide withdrawal due to safety concerns, was utilised as a disease-modifying therapy in relapsing-remitting multiple sclerosis. The withdrawal of this therapy was prompted by concerns over 12 cases of serious immune-mediated adverse reactions in the central nervous system. We report an additional case, including clinical data and results of neuroimaging, cerebrospinal fluid (CSF) examination and brain biopsy.

scholarly journals Multiple Sclerosis and SARS-CoV-2: Has the Interplay Started?

2021 ◽  
Vol 12 ◽  
Author(s):  
Gianmarco Bellucci ◽  
Virginia Rinaldi ◽  
Maria Chiara Buscarinu ◽  
Roberta Reniè ◽  
Rachele Bigi ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Viral Infections ◽  
Current Knowledge ◽  
Endogenous Retroviruses ◽  
The Novel ◽  
Barr Virus ◽  
Complex Interactions ◽  
The Central Nervous System ◽  
Epstein Barr ◽  
Novel Coronavirus

Current knowledge on Multiple Sclerosis (MS) etiopathogenesis encompasses complex interactions between the host’s genetic background and several environmental factors that result in dysimmunity against the central nervous system. An old-aged association exists between MS and viral infections, capable of triggering and sustaining neuroinflammation through direct and indirect mechanisms. The novel Coronavirus, SARS-CoV-2, has a remarkable, and still not fully understood, impact on the immune system: the occurrence and severity of both acute COVID-19 and post-infectious chronic illness (long COVID-19) largely depends on the host’s response to the infection, that echoes several aspects of MS pathobiology. Furthermore, other MS-associated viruses, such as the Epstein-Barr Virus (EBV) and Human Endogenous Retroviruses (HERVs), may enhance a mechanistic interplay with the novel Coronavirus, with the potential to interfere in MS natural history. Studies on COVID-19 in people with MS have helped clinicians in adjusting therapeutic strategies during the pandemic; similar efforts are being made for SARS-CoV-2 vaccination campaigns. In this Review, we look over 18 months of SARS-CoV-2 pandemic from the perspective of MS: we dissect neuroinflammatory and demyelinating mechanisms associated with COVID-19, summarize pathophysiological crossroads between MS and SARS-CoV-2 infection, and discuss present evidence on COVID-19 and its vaccination in people with MS.

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