Multiple sclerosis: Unveiling current immunogenetic factors and their role in etiopathogenesis and clinical aspects

Benediktas Trumpulis, Rasa Liutkeviciene, Renata Balnyte
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Abstract

Multiple sclerosis (MS) is the most common cause of neurological deficits among the young population. While the prevalence of MS is increasing worldwide, the incidence rate of MS is also undergoing a similar trend in Lithuania. Globally, women are twice as likely to be affected by MS as men. Unilateral optic neuritis is the most common initial symptom of MS. The signs and symptoms of MS vary greatly from patient to patient and depend on the location and severity of the nerve fiber damage in the central nervous system. Most people with MS have a relapsing-remitting disease course or clinically isolated syndrome. They experience periods of new symptoms or relapses that develop over days or weeks and usually resolve partially or completely. These relapses are followed by quiet periods of disease remission that may last months or even years. Data accumulated over the years suggest a complex interplay between environment and immunogenetics (strong associations with a large number of immune and genetic markers), and an increasingly convincing role of an underlying degenerative process leading to demyelination (in both white and gray matter), axonal and neurosynaptic damage, and a persistent innate inflammatory response, with T-cell-mediated autoimmunity appearing to play a diminishing role as the MS develops and progresses. In the absence of clinically proven, accurate, and reliable biomarkers, the disease can take a progressive course in case of late treatment, signifying the critical need for early diagnosis. This article therefore discusses the etiopathogenesis and clinical aspects of MS.
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多发性硬化症:揭示当前免疫遗传因素及其在发病机制和临床方面的作用
多发性硬化症(MS)是年轻人中最常见的神经功能缺陷的原因。在全球多发性硬化症患病率不断上升的同时,立陶宛的多发性硬化症发病率也呈现出类似的趋势。在全球范围内,女性患多发性硬化症的可能性是男性的两倍。单侧视神经炎是多发性硬化症最常见的首发症状。多发性硬化症的体征和症状因人而异,取决于中枢神经系统中神经纤维损伤的部位和严重程度。大多数多发性硬化症患者有复发缓解病程或临床孤立综合征。他们会经历几天或几周的新症状或复发,通常会部分或完全消退。这些复发之后是疾病缓解的平静期,可能持续数月甚至数年。多年来积累的数据表明,环境和免疫遗传学之间存在复杂的相互作用(与大量免疫和遗传标志物密切相关),并且越来越令人信服的是,潜在的退行性过程导致脱髓鞘(在白质和灰质中)、轴突和神经突触损伤以及持续的先天炎症反应,随着MS的发展和进展,t细胞介导的自身免疫似乎发挥的作用越来越小。在缺乏临床证明的、准确的、可靠的生物标志物的情况下,如果治疗晚了,疾病可能会发展成一个渐进的过程,这表明迫切需要早期诊断。因此,本文讨论多发性硬化症的发病机制和临床方面。
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