C9orf72 and frontotemporal dementia: Accordingly, the reduction of C9orf72 expression in cell lines and primary neurons attenuated autophagy and caused the accumulation of p62/SQSTM1-positive puncta, which may underlie the neuro-pathophysiology frequently observed in amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD) patients.