scholarly journals Pediatric Multiple Sclerosis—A Challenging Demyelinating Disease: Case Report and Brief Review of the Literature

2012 ◽  
Vol 2012 ◽  
pp. 1-3
Author(s):  
Regina Célia Ajeje Pires de Albuquerque ◽  
Raquel Siqueira Leonel de Paula ◽  
Manuelina Mariana Capellari Macruz Brito ◽  
José Roberto Lopes Ferraz Filho ◽  
Lucas Crociati Meguins
Keyword(s):  
Multiple Sclerosis ◽  
Demyelinating Disease ◽  
Neurodegenerative Disorder ◽  
Diagnosis And Treatment ◽  
Unknown Etiology ◽  
Review Of The Literature ◽  
Pediatric Multiple Sclerosis ◽  
Current State ◽  
Disease Case ◽  
The Central Nervous System

Multiple sclerosis (MS) is an inflammatory, demyelinating, neurodegenerative disorder of the central nervous system (CNS) of unknown etiology. The peak onset is between age 20 and 40 years and usually affects more women than men. Although much knowledge has been achieved on the diagnosis and treatment of adult patients with MS, it remains a matter of debate and controversy in childhood. We present a case of MS in 9-year-old girl, review the current state of the knowledge on pediatric MS, and discuss the available tools for the diagnosis and treatment.

scholarly journals Longitudinal analysis reveals high prevalence of Epstein-Barr virus associated with multiple sclerosis

Science ◽  
2022 ◽  
Author(s):  
Kjetil Bjornevik ◽  
Marianna Cortese ◽  
Brian C. Healy ◽  
Jens Kuhle ◽  
Michael J. Mina ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Epstein Barr Virus ◽  
Demyelinating Disease ◽  
Serum Levels ◽  
Unknown Etiology ◽  
Neurofilament Light Chain ◽  
Neurofilament Light ◽  
Barr Virus ◽  
The Central Nervous System ◽  
Epstein Barr

Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease of the central nervous system of unknown etiology. We tested the hypothesis that MS is caused by Epstein-Barr virus (EBV) in a cohort comprising more than 10 million young adults on active duty in the US military, 955 of whom were diagnosed with MS during their period of service. Risk of MS increased 32-fold after infection with EBV but was not increased after infection with other viruses, including the similarly transmitted cytomegalovirus. Serum levels of neurofilament light chain, a biomarker of neuroaxonal degeneration, increased only after EBV seroconversion. These findings cannot be explained by any known risk factor for MS and suggest EBV as the leading cause of MS.

scholarly journals Gene expression changes underlying cortical pathology: clues to understanding neurological disability in multiple sclerosis

2013 ◽  
Vol 19 (10) ◽  
pp. 1249-1254 ◽  
Author(s):  
Ranjan Dutta
Keyword(s):  
Gene Expression ◽  
Multiple Sclerosis ◽  
Demyelinating Disease ◽  
Neuronal Loss ◽  
Unknown Etiology ◽  
Neurological Disability ◽  
Expression Studies ◽  
The Central Nervous System ◽  
Cortical Pathology ◽  
Gene Expression Studies

Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease of the central nervous system with an unknown etiology. The clinical disease course is variable, with the majority of patients experiencing reversible episodes of neurological disability in the third or fourth decade of life, eventually followed by a state of irreversible progression. Continuous axonal and neuronal loss is thought to be the major cause of this progression. Over the last decade, extensive research has targeted the gray matter and its role in MS pathogenesis. While pathological and imaging studies have begun to reveal important clues about the role of cortical pathology, gene expression studies in MS cortex are still emerging. Microarray-based comparative gene expression profiling provides a snapshot of genes underlying a particular condition and has been performed using brain tissues from patients with progressive MS. In this review, we summarize existing data from gene expression changes in cortical tissues from MS brains and how they may provide clues to the pathogenesis.

scholarly journals The Emerging Role of Neutrophil Granulocytes in Multiple Sclerosis

2018 ◽  
Vol 7 (12) ◽  
pp. 511 ◽  
Author(s):  
Tonia Woodberry ◽  
Sophie Bouffler ◽  
Alicia Wilson ◽  
Rebecca Buckland ◽  
Anne Brüstle
Keyword(s):  
Multiple Sclerosis ◽  
Demyelinating Disease ◽  
Disease Onset ◽  
Common Disease ◽  
Neutrophil Granulocytes ◽  
Current State ◽  
The Central Nervous System ◽  
And Function ◽  
Ms Pathogenesis

Multiple sclerosis (MS) is a demyelinating disease of the central nervous system with a strong autoimmune, neurodegenerative, and neuroinflammatory component. Most of the common disease modifying treatments (DMTs) for MS modulate the immune response targeting disease associated T and B cells and while none directly target neutrophils, several DMTs do impact their abundance or function. The role of neutrophils in MS remains unknown and research is ongoing to better understand the phenotype, function, and contribution of neutrophils to both disease onset and stage of disease. Here we summarize the current state of knowledge of neutrophils and their function in MS, including in the rodent based MS model, and we discuss the potential effects of current treatments on these functions. We propose that neutrophils are likely to participate in MS pathogenesis and their abundance and function warrant monitoring in MS.

scholarly journals The Skeletal Muscle Emerges as a New Disease Target in Amyotrophic Lateral Sclerosis

2021 ◽  
Vol 11 (7) ◽  
pp. 671
Author(s):  
Oihane Pikatza-Menoio ◽  
Amaia Elicegui ◽  
Xabier Bengoetxea ◽  
Neia Naldaiz-Gastesi ◽  
Adolfo López de Munain ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Amyotrophic Lateral Sclerosis ◽  
Muscle Tissue ◽  
Motor Neurons ◽  
Neurodegenerative Disorder ◽  
Disease Onset ◽  
Fine Tuning ◽  
Current State ◽  
The Central Nervous System ◽  
Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder that leads to progressive degeneration of motor neurons (MNs) and severe muscle atrophy without effective treatment. Most research on ALS has been focused on the study of MNs and supporting cells of the central nervous system. Strikingly, the recent observations of pathological changes in muscle occurring before disease onset and independent from MN degeneration have bolstered the interest for the study of muscle tissue as a potential target for delivery of therapies for ALS. Skeletal muscle has just been described as a tissue with an important secretory function that is toxic to MNs in the context of ALS. Moreover, a fine-tuning balance between biosynthetic and atrophic pathways is necessary to induce myogenesis for muscle tissue repair. Compromising this response due to primary metabolic abnormalities in the muscle could trigger defective muscle regeneration and neuromuscular junction restoration, with deleterious consequences for MNs and thereby hastening the development of ALS. However, it remains puzzling how backward signaling from the muscle could impinge on MN death. This review provides a comprehensive analysis on the current state-of-the-art of the role of the skeletal muscle in ALS, highlighting its contribution to the neurodegeneration in ALS through backward-signaling processes as a newly uncovered mechanism for a peripheral etiopathogenesis of the disease.

scholarly journals Abdominopelvic ectopic spleen with a comprehensive imaging examination: a case report

2021 ◽  
Vol 49 (3) ◽  
pp. 030006052110005
Author(s):  
Hao Guo ◽  
Xinru Ba ◽  
Peiyou Gong ◽  
Guangzhi Wang ◽  
Heng Ma ◽  
...  
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Diagnosis And Treatment ◽  
Review Of The Literature ◽  
Anatomical Position ◽  
Ectopic Spleen ◽  
Current State ◽  
Imaging Examination ◽  
Upper Abdomen ◽  
State Of The Field

Ectopic spleen is a rare clinical malformation in which the spleen is relocated from its normal anatomical position to other parts of the abdomen. We report a rare case of abdominopelvic ectopic spleen caused by splenic ligament deficiency. A patient experienced intermittent pain in the left upper abdomen that was progressively aggravated. This was confirmed by comprehensive imaging examinations and postoperative pathology. We also performed a review of the literature on the current state of the field. Our data may help to improve the diagnosis and treatment of ectopic spleen.

scholarly journals HIV infection and multiple sclerosis: a case with unexpected “no evidence of disease activity” status

2021 ◽  
Vol 49 (3) ◽  
pp. 030006052199957
Author(s):  
Fernando Labella ◽  
Fernando Acebrón ◽  
María del Carmen Blanco-Valero ◽  
Alba Rodrígez-Martín ◽  
Ángela Monterde Ortega ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Hiv Infection ◽  
Disease Activity ◽  
Demyelinating Disease ◽  
Clinical Course ◽  
Disease Modifying Drugs ◽  
Immunodeficiency Virus ◽  
Relapsing Remitting ◽  
The Central Nervous System ◽  
Disease Modifying

Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system whose etiology remains unclear. It has been suggested that MS can be triggered by certain viruses; however, human immunodeficiency virus (HIV) infection is associated with reduced incidence of MS. We present the case of a young patient diagnosed with active relapsing-remitting MS whose clinical course substantially improved following HIV infection and treatment. The patient achieved no evidence of disease activity status without any disease-modifying drugs. Both HIV-induced immunosuppression and antiretroviral therapy may have attenuated the clinical course in this patient.

Recent advances on immunosuppressive drugs and remyelination enhancers for the treatment of multiple sclerosis

2021 ◽  
Vol 27 ◽  
Author(s):  
Jennifer Cadenas-Fernández ◽  
Pablo Ahumada-Pascual ◽  
Luis Sanz Andreu ◽  
Ana Velasco
Keyword(s):  
Multiple Sclerosis ◽  
Intracellular Signaling ◽  
Demyelinating Disease ◽  
Lipid Synthesis ◽  
Immunosuppressive Drugs ◽  
Nerve Fibers ◽  
Myelin Sheaths ◽  
Demyelinating Lesions ◽  
The Central Nervous System ◽  
Lipid Structures

: Mammalian nervous systems depend crucially on myelin sheaths covering the axons. In the central nervous system, myelin sheaths consist of lipid structures which are generated from the membrane of oligodendrocytes (OL). These sheaths allow fast nerve transmission, protect axons and provide them metabolic support. In response to specific traumas or pathologies, these lipid structures can be destabilized and generate demyelinating lesions. Multiple sclerosis (MS) is an example of a demyelinating disease in which the myelin sheaths surrounding the nerve fibers of the brain and spinal cord are damaged. MS is the leading cause of neurological disability in young adults in many countries, and its incidence has been increasing in recent decades. Related to its etiology, it is known that MS is an autoimmune and inflammatory CNS disease. However, there are no effective treatments for this disease and the immunomodulatory therapies that currently exist have proven limited success since they only delay the progress of the disease. Nowadays, one of the main goals in the MS research is to find treatments which allows the recovery of neurological disabilities due to demyelination. To this end, different approaches, such as modulating intracellular signaling or regulating the lipid metabolism of OLs, are being considered. Here, in addition to immunosuppressive or immunomodulatory drugs that reduce the immune response against myelin sheaths, we review a diverse group of drugs that promotes endogenous remyelination in MS patients and whose use may be interesting as potential therapeutic agents in MS disease. To this end, we compile specific treatments against MS that are currently in the market with remyelination strategies which have entered into human clinical trials for future reparative MS therapies. The method used in this study is a systematic literature review on PubMed, Web of Science and Science Direct databases up to May 31, 2020. To narrow down the search results in databases, more specific keywords, such as, “myelin sheath”, “remyelination”, “demyelination”, “oligodendrocyte” and “lipid synthesis” were used to focus the search. We favoured papers published after January, 2015, but did not exclude earlier seminal papers.

scholarly journals Relapsing Tumefactive Demyelination: A Case Report

2018 ◽  
Vol 47 (2) ◽  
pp. 193
Author(s):  
Ibrahim Omerhodžić ◽  
Almir Džurlić ◽  
Dino Lisica ◽  
Nevena Mahmutbegović ◽  
Maida Nikšić ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Case Report ◽  
Female Patient ◽  
Demyelinating Disease ◽  
Diagnostic Procedures ◽  
Young Female ◽  
Diagnostic Challenge ◽  
Fresh Frozen ◽  
The Central Nervous System ◽  
Tumorlike Lesion

<p><strong>Objective. </strong>We present a case of relapsing tumefactive demyelination in a young female patient, that posed a real diagnostic challenge, with a heterogeneous clinical picture, atypical for multiple sclerosis (MS) presentation, and neuroradiological manifestations with a high suspicion of neoplastic diseases.</p><p><strong>Case Report</strong>. An 18-year old female patient presented to our Neurosurgical Out-patients’ Clinic with symptoms atypical for multiple sclerosis, unremarkable neurological deficit, one tumefactive lesion on MRI, followed by relapse and another two lesions within a period of six months. We decided to perform biopsy of the tumefactive lesion with compressive effect. Serological and clinical data were negative for MS, and the patient did not respond well to corticosteroid therapy. Fresh frozen tumor tissue aroused a strong suspicion of gemistocytic astrocytoma, so total resection was done, but the definitive pathohistological examination confirmed tumefactive demyelination.</p><p><strong>Conclusion</strong>. For clinicians, it is important to consider demyelinating disease in the differential diagnosis of a tumorlike lesion of the central nervous system, in order to avoid invasive and potentially harmful diagnostic procedures, especially in younger patients.</p>

Multiple Sclerosis

2018 ◽  
pp. 209-216
Author(s):  
Samuel W. Samuel ◽  
Jianguo Cheng
Keyword(s):  
Multiple Sclerosis ◽  
Central Nervous System ◽  
Neuropathic Pain ◽  
Demyelinating Disease ◽  
Spontaneous Pain ◽  
Disease Course ◽  
The Central Nervous System ◽  
Disease Modifying ◽  
Multiple Treatments ◽  
Surgical Treatments

Multiple sclerosis (MS) is a chronic autoimmune demyelinating disease of the central nervous system (CNS). The diagnosis is based on evidence of at lease two different lesions in the CNS, at least two different episodes in the disease course, and chronic inflammation of the CNS as determined by analysis of the cerebrospinal fluid. Central neuropathic pain is the most common form of pain in patients with MS, with an estimated prevalence of about 50%. Along with the classical neuropathic pain features, such as spontaneous pain (dysesthesia and burning) and evoked pain (allodynia and hyperalgesia), patients with MS may also suffer from intermittent neuropathic pain, such as trigeminal neuralgia, Lhermitte sign, and glossopharyngeal neuralgia. In addition to disease-modifying therapies of MS, multiple treatments are available to manage neuropathic pain secondary to MS, including medical, interventional, and surgical treatments with varying levels of evidence.

scholarly journals Exome-Sequence Analyses of Four Multi-Incident Multiple Sclerosis Families

Genes ◽  
2020 ◽  
Vol 11 (9) ◽  
pp. 988
Author(s):  
Tobias Zrzavy ◽  
Fritz Leutmezer ◽  
Wolfgang Kristoferitsch ◽  
Barbara Kornek ◽  
Christine Schneider ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Genome Wide Association Study ◽  
Rare Variants ◽  
Demyelinating Disease ◽  
Phenotypic Variability ◽  
Convincing Evidence ◽  
Risk Variants ◽  
Unbiased Manner ◽  
The Central Nervous System ◽  
Reduced Penetrance

Multiple sclerosis (MS) is an inflammatory demyelinating disease of the Central Nervous System (CNS). Currently, it is estimated that 30–40% of the phenotypic variability of MS can be explained by genetic factors. However, low susceptibility variants identified through Genome Wide Association Study (GWAS) were calculated to explain about 50% of the heritability. Whether familial high-risk variants also contribute to heritability is a subject of controversy. In the last few years, several familial variants have been nominated, but none of them have been unequivocally confirmed. One reason for this may be that genetic heterogeneity and reduced penetrance are hindering detection. Sequencing a large number of MS families is needed to answer this question. In this study, we performed whole exome sequencing in four multi-case families, of which at least three affected individuals per family were analyzed. We identified a total of 138 rare variants segregating with disease in each of the families. Although no single variant showed convincing evidence for disease causation, some genes seemed particularly interesting based on their biological function. The main aim of this study was to provide a complete list of all rare segregating variants to provide the possibility for other researchers to cross-check familial candidate genes in an unbiased manner.

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