克雅氏病:对当前认识和研究的全面回顾。

IF 3.6 3区 医学 Q1 CLINICAL NEUROLOGY Journal of the Neurological Sciences Pub Date : 2024-11-12 DOI:10.1016/j.jns.2024.123293
Huzaifa Noor, Muhammad Hadi Baqai, Hufsa Naveed, Tooba Naveed, Syed Sarosh Rehman, Muhammad Shaheer Aslam, Fatima Mustafa Lakdawala, Waleed Abdullah Memon, Sanjana Rani, Haneen Khan, Alizeh Imran, Sabeeh Khawar Farooqui
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引用次数: 0

摘要

克雅氏病(CJD)是朊病毒病样本之一,具有快速进展性神经退行性疾病的特征,表现为精神运动变化,其中包括认知功能障碍、运动障碍和行为异常。总的来说,这篇简短的综述将有助于阐明 CJD 的临床特征和发病、病因、诊断难题和治疗可能性。CJD 可分为散发性、遗传性和获得性三种形式,其发病与不同的朊病毒品种和遗传特征有关。CJD 的发病过程包括错误折叠的朊病毒在大脑中沉积,导致细胞凋亡,随后出现海绵状变化的形态特征。诊断策略已经发生了变化;目前,我们可以看到成像方法、通过脑脊液生物标志物进行诊断以及基于基因的诊断。目前,CJD 尚无根治方法;因此,管理和治疗的目的是支持患者,减轻疾病的症状和体征。根据我们的讨论,这篇综述旨在让读者了解近期开展的研究、诊断进展和可能的治疗方法,并指出需要开展更多研究来防治 CJD 这一总体指标。
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Creutzfeldt-Jakob disease: A comprehensive review of current understanding and research
Creutzfeldt-Jakob Disease (CJD) is one of the sample prion diseases that have characteristic features of rapidly progressive neurodegenerative disease manifested by psychomotor changes, some of which include cognitive dysfunction, motor disorder, and behavioral abnormalities. In general, this brief review will assist in elucidating the clinical features and onset, causes, diagnostic challenges, and therapeutic possibilities of CJD. It is classified into sporadic, hereditary, and acquired forms, and affection is identified as linked to the different prion varieties and genetic profiles. The disease process of CJD consists of the deposition of misfolded prions in the brain that causes apoptosis and the subsequent morphological features in the form of spongiform changes. Diagnostic strategies have changed; presently, one can see imaging methods, diagnosis through CSF biomarkers, and genetic-based diagnosis. At this time, there is no cure for CJD; therefore, management and treatment aim at supporting the patient and alleviating the signs and symptoms of the disease. As per our discussion, this review sought to accustom the readers with recent studies conducted, diagnostic advancements, and probable therapeutic approaches, pointing to the general index that more research is needed to fight CJD.
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来源期刊
Journal of the Neurological Sciences
Journal of the Neurological Sciences 医学-临床神经学
CiteScore
7.60
自引率
2.30%
发文量
313
审稿时长
22 days
期刊介绍: The Journal of the Neurological Sciences provides a medium for the prompt publication of original articles in neurology and neuroscience from around the world. JNS places special emphasis on articles that: 1) provide guidance to clinicians around the world (Best Practices, Global Neurology); 2) report cutting-edge science related to neurology (Basic and Translational Sciences); 3) educate readers about relevant and practical clinical outcomes in neurology (Outcomes Research); and 4) summarize or editorialize the current state of the literature (Reviews, Commentaries, and Editorials). JNS accepts most types of manuscripts for consideration including original research papers, short communications, reviews, book reviews, letters to the Editor, opinions and editorials. Topics considered will be from neurology-related fields that are of interest to practicing physicians around the world. Examples include neuromuscular diseases, demyelination, atrophies, dementia, neoplasms, infections, epilepsies, disturbances of consciousness, stroke and cerebral circulation, growth and development, plasticity and intermediary metabolism.
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