Multiple system atrophy (MSA) is an atypical parkinsonism that rapidly affects motor ability and autonomic function, leaving patients wheelchair-bound and dependent for daily activities in 3–5 years. Differential diagnosis is challenging as cases may resemble Parkinson's disease or other ataxic syndromes depending on the clinical variant (MSA-P or MSA-C), especially in early stages. There are limited symptomatic treatments and no disease-modifying therapies. Pathologically, alpha-synuclein aggregates are found in glial cytoplasmic inclusions, among other proteins, as well as in neurons. The molecular pathogenesis of the disease, however, is widely unknown. Transcriptomic studies in MSA have tried to unravel the pathological mechanisms involved in the disease. Several biological and molecular processes have been described in the literature that associate disease pathogenesis with inflammation, mitochondrial, and autophagy related dysfunctions, as well as prion disease and Alzheimer disease associated pathways. These reports have also registered several differential diagnostic biomarker candidates. However, cross-validation between studies, in general, is poor, making clinical applicability and data reliability very challenging. This review will go over the main transcriptomic studies done in MSA, reporting on the most significant transcriptive and post-transcriptive changes described, and focusing on the main consensual findings.

多系统萎缩症（MSA）是一种非典型的帕金森氏病，会迅速影响运动能力和自主神经功能，使患者束缚轮椅，并需要3-5年的日常活动。鉴别诊断具有挑战性，因为根据临床变异（MSA-P或MSA-C），病例可能类似于帕金森氏病或其他共济失调综合征，尤其是在早期阶段。对症治疗方法有限，没有可改善疾病的疗法。病理上，在神经胶质细胞质内含物，其他蛋白质以及神经元中发现了α-突触核蛋白的聚集体。然而，该疾病的分子发病机理是广泛未知的。MSA中的转录组学研究试图揭示该疾病涉及的病理机制。文献中已经描述了几种生物学和分子过程，这些过程将疾病的发病机制与炎症，线粒体和自噬相关的功能障碍以及病毒疾病和阿尔茨海默氏病相关的途径联系起来。这些报告还注册了几种差异诊断生物标志物候选物。但是，总体而言，研究之间的交叉验证很差，因此临床应用和数据可靠性非常具有挑战性。这篇综述将回顾在MSA中进行的主要转录组研究，报告所描述的最重要的转录和转录后变化，并着重于主要的共识性发现。这些报告还注册了几种差异诊断生物标志物候选物。但是，总体而言，研究之间的交叉验证很差，因此临床应用和数据可靠性非常具有挑战性。这篇综述将回顾在MSA中进行的主要转录组研究，报告所描述的最重要的转录和转录后变化，并着重于主要的共识性发现。这些报告还注册了几种差异诊断生物标志物候选物。但是，总体而言，研究之间的交叉验证很差，因此临床应用和数据可靠性非常具有挑战性。这篇综述将回顾在MSA中进行的主要转录组研究，报告所描述的最重要的转录和转录后变化，并着重于主要的共识性发现。