Interestingly, mutations in many aggrephagy receptors result in neurodegeneration: mutations in ALFY are associated with human microcephaly [59,194], OPTN1 for ALS and primary open angle glaucoma [195], in addition to p62 (SQSTM1) mutations which are associated with ALS, frontotemporal dementia (FTD) and distal myopathy [196,197]. This evidence concerns the gene SQSTM1 and microcephaly.