In conclusion, despite the small sample size assessed in this case series, we show that TDP‐43 pathology is present in these cases and that NEK1 LOF could be mediated through loss of NEK1 translation or through aggregation of NEK1 protein as in the case with p.Arg261His mutation, a potential novel pathological feature of NEK1‐ALS. The gene discussed is TARDBP; the disease is amyotrophic lateral sclerosis.