Sturm Edith, Stefanova Nadia
Division of Neurobiology, Department of Neurology, Innsbruck Medical University, Innsbruck A-6020, Austria.
Exp Neurobiol. 2014 Dec;23(4):277-91. doi: 10.5607/en.2014.23.4.277. Epub 2014 Dec 12.
Multiple system atrophy (MSA) is a rare, late-onset and fatal neurodegenerative disease including multisystem neurodegeneration and the formation of α-synuclein containing oligodendroglial cytoplasmic inclusions (GCIs), which present the hallmark of the disease. MSA is considered to be a sporadic disease; however certain genetic aspects have been studied during the last years in order to shed light on the largely unknown etiology and pathogenesis of the disease. Epidemiological studies focused on the possible impact of environmental factors on MSA disease development. This article gives an overview on the findings from genetic and epigenetic studies on MSA and discusses the role of genetic or epigenetic factors in disease pathogenesis.
多系统萎缩(MSA)是一种罕见的、晚发性致命神经退行性疾病,包括多系统神经变性以及含α-突触核蛋白的少突胶质细胞胞质内包涵体(GCIs)的形成,这些包涵体是该疾病的标志。MSA被认为是一种散发性疾病;然而,在过去几年中对某些遗传方面进行了研究,以便阐明该疾病在很大程度上未知的病因和发病机制。流行病学研究聚焦于环境因素对MSA疾病发展的可能影响。本文概述了MSA遗传和表观遗传学研究的结果,并讨论了遗传或表观遗传因素在疾病发病机制中的作用。