Multiple system atrophy: genetic risks and alpha-synuclein mutations.

摘要: Multiple system atrophy (MSA) is one of the few neurodegenerative disorders where we have a significant understanding clinical and pathological manifestations but aetiology remains almost completely unknown. Research to overcome this hurdle gaining momentum through international research collaboration series genetic molecular discoveries in last years, which advanced our knowledge rare synucleinopathy. In MSA, discovery α-synuclein pathology glial cytoplasmic inclusions remain most findings. Families with certain types mutations develop diseases that mimic spectrum features these families suggests severity, from late-onset Parkinson's disease MSA. Nonetheless, controversies persist, such as role common variants MSA whether disorder shares mechanism spreading other protein misfolding diseases. Here, review issues, specifically focusing on mutations.