Department of Neurology, The Second Hospital of Jilin University, 218 Ziqiang Street, Changchun, 130041, Jilin, People's Republic of China.
Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73014, USA.
J Neurol. 2018 Dec;265(12):2764-2772. doi: 10.1007/s00415-018-8876-x. Epub 2018 Apr 26.
Multiple system atrophy (MSA) and spinocerebellar ataxias (SCAs) are both progressive neurodegenerative disorders, which can manifest cerebellar dysfunctions and parkinsonism-related symptoms, although the former is sporadic and the latter is autosomal dominant disease. Routinely, diagnosis is primarily based on clinical information-thorough history and physical examination should be included. Provided family history obtained, distinguishing SCAs from MSA is easy. However, how can we diagnose MSA or SCAs, in case of insufficient and unconvinced clinical symptoms or family history? Especially, familial MSA cases had been reported recently. We may drop into a dilemma resulting from analogous manifestations between MSA and SCAs. Herein, we aim to give a comprehensive introduction of MSA and SCAs, mainly in phenotype and genotype, and then address the connection and difference between them. Recently, some studies had been put forward to figure out the overlapped features between MSA and SCAs. Through this review, we want to discuss the possibility of misdiagnosis between MSA and SCAs.
多系统萎缩（MSA）和脊髓小脑共济失调（SCA）都是进行性神经退行性疾病，可表现出小脑功能障碍和帕金森病相关症状，尽管前者是散发性的，后者是常染色体显性遗传病。通常，诊断主要基于临床信息，包括详细的病史和体检。如果获得家族史，区分 SCA 和 MSA 很容易。但是，如果临床症状或家族史不充分且不令人信服，我们如何诊断 MSA 或 SCA 呢？特别是，最近已经报道了家族性 MSA 病例。由于 MSA 和 SCA 之间表现相似，我们可能会陷入困境。在此，我们旨在全面介绍 MSA 和 SCA，主要介绍表型和基因型，然后讨论它们之间的联系和区别。最近，一些研究提出了 MSA 和 SCA 之间重叠特征的问题。通过这篇综述，我们希望讨论 MSA 和 SCA 之间误诊的可能性。
