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

Using a Next Generation Sequencing approach we sequenced a cohort of 350 unrelated iralian ALS patients and we analysed the clinical features of NEK1 carriers. We detected 20 different NEK1 rare variants in 33 unrelated patients with sporadic ALS (sALS); four LoF variants (two frameshift and two splice-site variants) were novel. The p.Arg261His missense variant was enriched in patients' cohort. NEK1 carriers had a higher frequency of flail arm (FA) 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.