Laurens Brice, Vergnet Sylvain, Lopez Miguel Cuina, Foubert-Samier Alexandra, Tison François, Fernagut Pierre-Olivier, Meissner Wassilios G
Service de Neurologie, Hôpital Pellegrin, CHU de Bordeaux, 33000, Bordeaux, France.
Institut des Maladies Neurodégénératives, Univ. de Bordeaux, UMR 5293, 33000, Bordeaux, France.
Curr Neurol Neurosci Rep. 2017 May;17(5):41. doi: 10.1007/s11910-017-0751-0.
Multiple system atrophy (MSA) is a rare and fatal neurodegenerative disorder that is characterized by a variable combination of parkinsonism, cerebellar impairment, and autonomic dysfunction. Some symptomatic treatments are available while neuroprotection or disease-modification remain unmet treatment needs. The pathologic hallmark is the accumulation of aggregated alpha-synuclein (α-syn) in oligodendrocytes forming glial cytoplasmic inclusions, which qualifies MSA as synucleinopathy together with Parkinson's disease and dementia with Lewy bodies. Despite progress in our understanding of the pathogenesis of MSA, the origin of α-syn aggregates in oligodendrocytes is still a matter of an ongoing debate. We critically review here studies published in the field over the past 5 years dealing with pathogenesis, genetics, clinical signs, biomarker for improving diagnostic accuracy, and treatment development.
多系统萎缩（MSA）是一种罕见的致命性神经退行性疾病，其特征是帕金森综合征、小脑功能障碍和自主神经功能障碍的多种组合。目前有一些对症治疗方法，但神经保护或疾病修饰治疗需求仍未得到满足。病理标志是α-突触核蛋白（α-syn）在少突胶质细胞中聚集形成胶质细胞质包涵体，这使MSA与帕金森病和路易体痴呆一起被归类为突触核蛋白病。尽管我们对MSA发病机制的理解取得了进展，但少突胶质细胞中α-syn聚集体的起源仍是一个持续争论的问题。我们在此批判性地回顾了过去5年该领域发表的关于发病机制、遗传学、临床症状、提高诊断准确性的生物标志物以及治疗开发的研究。
