1st Department of Neurology, Medical School, Aeginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
1st Department of Neurology, Medical School, Aeginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Adv Clin Chem. 2023;115:83-133. doi: 10.1016/bs.acc.2023.03.002. Epub 2023 Mar 28.
Multiple System Atrophy (MSA) and Progressive Supranuclear Palsy (PSP) are atypical parkinsonian syndromes (APS) with various clinical phenotypes and considerable clinical overlap with idiopathic Parkinson's disease (iPD). This disease heterogeneity makes ante-mortem diagnosis extremely challenging with up to 24% of patients misdiagnosed. Because diagnosis is predominantly clinical, there is great interest in identifying biomarkers for early diagnosis and differentiation of the different types of parkinsonism. Compared to protein biomarkers, microRNAs (miRNAs) and circularRNAs (circRNAs) are stable tissue-specific molecules that can be accurately measured by reverse transcription-quantitative polymerase chain reaction (RT-qPCR). This chapter critically reviews miRNAs and circRNAs as diagnostic biomarkers and therapeutics to differentiate atypical parkinsonian disorders and their role in disease pathogenesis.
多系统萎缩症（MSA）和进行性核上性麻痹症（PSP）是具有不同临床表型的非典型帕金森综合征（APS），与特发性帕金森病（iPD）有相当大的临床重叠。这种疾病异质性使得在生前诊断极具挑战性，多达 24%的患者被误诊。由于诊断主要基于临床，因此人们非常关注寻找生物标志物来进行早期诊断和区分不同类型的帕金森病。与蛋白质生物标志物相比，microRNAs（miRNAs）和 circularRNAs（circRNAs）是稳定的组织特异性分子，可以通过逆转录定量聚合酶链反应（RT-qPCR）准确测量。本章批判性地回顾了 miRNAs 和 circRNAs 作为诊断生物标志物和治疗方法，以区分非典型帕金森病，并探讨它们在疾病发病机制中的作用。
