NEFH and amyotrophic lateral sclerosis: Deletions in the C-terminal KSP repeat region of the NEFH gene in 5 of 356 patients with sporadic amyotrophic lateral sclerosis (ALS) and frameshift mutations (c.3008_3009del and c.3043_3044del) often lead to the translation of 40 additional amino acids encoding a cryptic amyloidogenic element, resulting in CMT disease [14, 15].