期刊
NEUROBIOLOGY OF AGING
卷 32, 期 10, 页码 -出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2011.04.001
关键词
Multiple system atrophy; Glial cytoplasmic inclusions; Alpha-synuclein; Neurodegeneration; Ataxia; Parkinsonism
资金
- Austrian Research Foundation [FWF W1206]
- National Institute on Aging [Z01-AG000957-06]
- Austrian Science Fund (FWF) [W1206] Funding Source: Austrian Science Fund (FWF)
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. (C) 2011 Elsevier Inc. All rights reserved.
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