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Neurobiol Aging. 2011 Oct;32(10):1924.e5-14. doi: 10.1016/j.neurobiolaging.2011.04.001. Epub 2011 May 24.

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

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  • 1Division of Clinical Neurobiology, Department of Neurology, Innsbruck Medical University, Innsbruck, Austria.


Multiple system atrophy (MSA) is a fatal oligodendrogliopathy characterized by prominent α-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 α-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.

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