Multiple system atrophy: genetic risks and alpha-synuclein mutations
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چکیده
منابع مشابه
Multiple system atrophy: genetic risks and alpha-synuclein mutations
Multiple system atrophy (MSA) is one of the few neurodegenerative disorders where we have a significant understanding of the clinical and pathological manifestations but where the aetiology remains almost completely unknown. Research to overcome this hurdle is gaining momentum through international research collaboration and a series of genetic and molecular discoveries in the last few years, w...
متن کاملGenetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy
Background: Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by parkinsonism, cerebellar ataxia and autonomic dysfunction. Pathogenic mechanisms remain obscure but the neuropathological hallmark is the presence of a-synuclein-immunoreactive glial cytoplasmic inclusions. Genetic variants of the a-synuclein gene, SNCA, are thus strong candidates for genetic ...
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Synucleinopathies, neurodegenerative disorders with alpha-synuclein (α-syn) accumulation, are the second leading cause of neurodegeneration in the elderly, however no effective disease-modifying alternatives exist for these diseases. Multiple system atrophy (MSA) is a fatal synucleinopathy characterized by the accumulation of toxic aggregates of α-syn within oligodendroglial cells, leading to d...
متن کاملAccumulation of NACP/alpha-synuclein in lewy body disease and multiple system atrophy.
OBJECTIVES NACP/alpha-synuclein is an aetiological gene product in familial Parkinson's disease. To clarify the pathological role of NACP/alpha-synuclein in sporadic Parkinson's disease and other related disorders including diffuse Lewy body disease (DLBD) and multiple system atrophy (MSA), paraffin sections were examined immunocytochemically using anti-NACP/alpha-synuclein antibodies. METHOD...
متن کاملAbsence of alpha-synuclein mRNA expression in normal and multiple system atrophy oligodendroglia.
alpha-Synuclein is a major constituent of glial cytoplasmic inclusions (GCIs), which are pathognomic for multiple system atrophy (MSA). We have previously demonstrated that in normal human brain, alpha-synuclein mRNA has a restricted pattern of neuronal expression and no apparent glial expression. The current study used double-label in situ hybridization to determine if alpha-synuclein mRNA is ...
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ژورنال
عنوان ژورنال: F1000Research
سال: 2017
ISSN: 2046-1402
DOI: 10.12688/f1000research.12193.1