Autophagy is dysregulated in spinocerebellar ataxia type 2

The accumulation of misfolded proteins and fibrillar aggregates inside neurons is a hallmark of several neurodegenerative diseases. While the exact role of these aggregates is still controversial, they are part of a cascade of molecular events that underlies the neuronal dysfunction and degeneration observed in these disorders. In this line, multiple studies on pathological events involved in neurodegenerative diseases have reported dysfunction of quality control mechanisms. In fact, the inhibition of macroautophagy/autophagy in the CNS per se, in the absence of additional stress stimuli, is sufficient to induce neurodegeneration. For neuronal homeostasis to be maintained, protein clearance systems must function properly, allowing the degradation of damaged organelles and pathogenic misfolded proteins. Therefore, in the last years there has been a strong focus on the study the dysregulation of protein clearance systems, especially autophagy, in the context of neurodegenerative diseases.