Genetic players in multiple system atrophy: unfolding the nature of the beast

作者：Stemberger Sylvia; Scholz Sonja W; Singleton Andrew B; Wenning Gregor K^*

来源：Neurobiology of Aging, 2011, 32(10): 1924.e5.

DOI：10.1016/j.neurobiolaging.2011.04.001

• Multiple system atrophy
• Glial cytoplasmic inclusions
• Alpha-synuclein
• Neurodegeneration
• Ataxia
• Parkinsonism

Multiple system atrophy (MSA) is a fatal oligodendrogliopathy characterized by prominent alpha-synuclein inclusions resulting in a neuronal multisystem degeneration. Until recently MSA was widely conceived as a nongenetic disorder. However, during the last years a few postmortem verified Mendelian pedigrees have been reported consistent with monogenic disease in rare cases of MSA. Further, within the last 2 decades several genes have been associated with an increased risk of MSA, first and foremost the SNCA gene coding for alpha-synuclein. Moreover, genes involved in oxidative stress, mitochondrial dysfunction, inflammatory processes, as well as parkinsonism- and ataxia-related genes have been implicated as susceptibility factors. In this review, we discuss the emerging evidence in favor of genetic players in MSA.

• 出版日期2011-10