α-突触核蛋白种子扩增试验阳性,超越了突触核蛋白病。

IF 10.8 1区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL
Ivan Martinez-Valbuena, Sarah Fullam, Sean O'Dowd, M Carmela Tartaglia, Gabor G Kovacs
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引用次数: 0

摘要

神经退行性疾病越来越被认为是涉及多种蛋白质病理的复杂疾病,除了经典的突触核蛋白病如帕金森病和多系统萎缩外,还经常观察到α-突触核蛋白。种子扩增法(SAAs)的最新进展使得在体内,特别是在脑脊液(CSF)中检测错误折叠的α-突触核蛋白具有高度的敏感性和特异性。本文综述了基于csf的α-突触核蛋白SAAs及其在非突触核蛋白病(包括阿尔茨海默病、进行性核上性麻痹、皮质基底综合征、特发性常压脑积水和外伤性脑损伤)共病理检测中的应用。证据表明α-突触核蛋白在临床异质性和疾病进展中的作用。新兴的诊断框架越来越支持将共同病理纳入分类和治疗策略。解决关键的知识空白,如α-突触核蛋白与其他蛋白质病理的相互作用,以及α-syn SAA目前的局限性,如缺乏错误折叠α-突触核蛋白种子的量化,将完善精准医学并改善神经退行性疾病患者的预后。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
α-Synuclein seed amplification assay positivity beyond synucleinopathies.

Neurodegenerative diseases are increasingly recognized as complex disorders involving multiple protein pathologies, with α-synuclein frequently observed beyond classical synucleinopathies such as Parkinson's disease and multiple system atrophy. Recent advances in seed amplification assays (SAAs) have enabled the highly sensitive and specific detection of misfolded α-synuclein in vivo, particularly in cerebrospinal fluid (CSF). This review focuses on CSF-based α-synuclein SAAs and their application in detecting co-pathology across non-synucleinopathies, including Alzheimer's disease, progressive supranuclear palsy, corticobasal syndrome, idiopathic normal pressure hydrocephalus, and traumatic brain injury. Evidence indicates a role for α-synuclein in clinical heterogeneity and disease progression. Emerging diagnostic frameworks increasingly support integrating co-pathologies into classification and therapeutic strategies. Addressing key knowledge gaps, such as α-synuclein interactions with other protein pathologies, and current limitations of α-syn SAA, such as the lack of quantification of misfolded α-synuclein seeds, will refine precision medicine and improve outcomes for patients with neurodegenerative diseases.

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来源期刊
EBioMedicine
EBioMedicine Biochemistry, Genetics and Molecular Biology-General Biochemistry,Genetics and Molecular Biology
CiteScore
17.70
自引率
0.90%
发文量
579
审稿时长
5 weeks
期刊介绍: eBioMedicine is a comprehensive biomedical research journal that covers a wide range of studies that are relevant to human health. Our focus is on original research that explores the fundamental factors influencing human health and disease, including the discovery of new therapeutic targets and treatments, the identification of biomarkers and diagnostic tools, and the investigation and modification of disease pathways and mechanisms. We welcome studies from any biomedical discipline that contribute to our understanding of disease and aim to improve human health.
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