An array of recent genetic studies based on whole-exome sequencing has identified that ALS patients exhibit a significant enrichment of predicted loss-of-function heterozygous variants in the gene encoding NIMA-related kinase 1 (NEK1), which accounts for 2 to 3% of both familial and sporadic disease (6–14). This evidence concerns the gene NEK1 and amyotrophic lateral sclerosis.