Multiple system atrophy (MSA) is a complex, multifactorial, debilitating neurodegenerative disease that is often misdiagnosed and misunderstood. MSA has two subclasses, MSA-P and MSA-C, defined by the dominance of parkinsonism or cerebellar dysfunction in the earlier stages of disease, coupled with dysautonomia. This distinction between subclasses becomes largely redundant as the disease progresses. Aggregation of α-synuclein is a clinical marker used to confirm MSA diagnoses, which can only be performed postmortem. Transcriptome profiling provides in-depth information about the diseased state and can contribute to further understanding of MSA, enabling easier and more rapid diagnosis as well as contributing to improving the quality of life of people with MSA. Currently, there is no method of diagnosing MSA with certainty, and there is no cure for this disease. This review provides an update on current advances in investigations of molecular pathology of MSA with particular focus on perturbation of individual gene expression and MSA transcriptome.

多系统萎缩症（MSA）是一种复杂的，多因素的，使人衰弱的神经退行性疾病，常常被误诊和误解。MSA有两个亚类，MSA-P和MSA-C，由疾病早期的帕金森氏症或小脑功能障碍以及自主神经功能障碍的优势所定义。随着疾病的进展，亚类之间的这种区分在很大程度上变得多余。α-突触核蛋白的聚集是用于确认MSA诊断的临床标记，只能在死后进行。转录组分析可提供有关疾病状态的深入信息，有助于进一步了解MSA，从而使诊断变得更加容易和快捷，并有助于改善MSA患者的生活质量。当前，尚无确定性诊断MSA的方法，而且无法治愈这种疾病。这篇综述提供了有关MSA分子病理学研究的最新进展的最新信息，特别关注了单个基因表达和MSA转录组的扰动。