Neurofilaments, structural cytoskeletal proteins that are released following axonal injury or neuronal loss, are being considered as prognostic or monitoring biomarkers in a number of neurodegenerative diseases, including Alzheimer's disease, frontotemporal dementia, multiple sclerosis, Parkinson's disease, and spinal muscular atrophy [[59], [60], [61], [62]]. This evidence concerns the gene DNM2 and proximal spinal muscular atrophy.