Stefanova Nadia, Bücke Philipp, Duerr Susanne, Wenning Gregor Karl
Division of Clinical Neurobiology, Department of Neurology, Medical University, Innsbruck, Austria.
Lancet Neurol. 2009 Dec;8(12):1172-8. doi: 10.1016/S1474-4422(09)70288-1.
Multiple system atrophy (MSA) is a sporadic and rapidly progressive neurodegenerative disorder that presents with autonomic failure in combination with parkinsonism or cerebellar ataxia. Over the past 5 years, substantial progress has been achieved in understanding the pathogenesis of the disease. Important insights into the epidemiology and genetics of MSA have confirmed the key pathogenic role of alpha-synuclein. Advances in the early recognition of this disease have resulted in revised diagnostic criteria, including, for the first time, neuroimaging indices. Finally, novel therapeutic options targeting disease modification have been investigated in clinical trials. These include riluzole, recombinant human growth hormone, and minocycline. Although the trials did not find any positive effects on disease progression, they generated important trial expertise in MSA and were only possible because of the establishment of international networks.
多系统萎缩（MSA）是一种散发性且进展迅速的神经退行性疾病，表现为自主神经功能衰竭，并伴有帕金森综合征或小脑共济失调。在过去5年里，对该疾病发病机制的理解取得了重大进展。对MSA流行病学和遗传学的重要见解证实了α-突触核蛋白的关键致病作用。该疾病早期识别方面的进展导致了诊断标准的修订，首次纳入了神经影像学指标。最后，针对疾病修饰的新型治疗选择已在临床试验中进行了研究。这些包括利鲁唑、重组人生长激素和米诺环素。尽管试验未发现对疾病进展有任何积极影响，但它们积累了MSA重要的试验经验，而且这些试验之所以能够开展，得益于国际网络的建立。
