NfL proteins support the cytoskeleton of neurons and myelinated axons, and elevated levels of NfL in CSF and blood are believed to be indicative of neuron death and axonal deterioration in a growing number of neurodegenerative disorders, including AD, PD, FTD, Lewy body dementia (LBD), progressive supranuclear palsy (PSP), Down syndrome, multiple sclerosis (MS), amyotrophic lateral sclerosis (ALS), Huntington's disease, X-linked adrenoleukodystrophy, spinocerebellar ataxia and Charcot-Marie-Tooth disease (73–85). This evidence concerns the gene NEFL and Charcot-Marie-Tooth disease.