Recently, large-scale whole-exome sequencing gene burden analysis studies highlighted a significant enrichment of NEK1 loss of function (LoF) variants in ALS (Brenner et al., 2016; Kenna et al., 2016), and an additional role for the p.Arg261His missense variant for disease susceptibility (Nguyen et al., 2018). This evidence concerns the gene NEK1 and amyotrophic lateral sclerosis.