Genetic players in multiple system atrophy: unfolding the nature of the beast
| Autor: | Andrew B. Singleton, Sonja W. Scholz, Gregor K. Wenning, Sylvia Stemberger |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Aging
Mitochondrial Diseases Ataxia Neuroscience(all) Clinical Neurology Pedigree chart Review Biology Parkinsonism Genetic Reports Abstract Alpha-synuclein 03 medical and health sciences symbols.namesake chemistry.chemical_compound 0302 clinical medicine Atrophy Intermediate Filament Proteins stomatognathic system Risk Factors mental disorders medicine Humans Glial cytoplasmic inclusions Neurodegeneration Gene 030304 developmental biology Family Health Genetics 0303 health sciences General Neuroscience Multiple system atrophy medicine.disease nervous system diseases Oxidative Stress Ageing chemistry nervous system Mutation Mendelian inheritance symbols Neurology (clinical) medicine.symptom Geriatrics and Gerontology 030217 neurology & neurosurgery Developmental Biology |
| Zdroj: | Neurobiology of Aging |
| ISSN: | 0197-4580 |
| DOI: | 10.1016/j.neurobiolaging.2011.04.001 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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