NEK1 variants in a cohort of Italian patients with Amyotrophic Lateral Sclerosis

Using a Next Generation Sequencing approach we sequenced a cohort of unrelated iralian ALS patients and we analysed the clinical features of NEK1 carriers. We detected different NEK1 rare variants in several unrelated patients with sporadic ALS; four LoF variants were novel. The p.Arg261His missense variant was enriched in patients cohort. NEK1 carriers had a higher frequency of flail arm phenotype compared with the other patients of the cohort. Nine NEK1 carriers also harbored variants in other ALS related genes. Our study suggests a correlation between the presence of NEK1 variants and FA phenotype.