Variant p.Gln303His was considered likely pathogenic because it was previously described in a sALS [33]. Overall, mutations in the TARDBP gene were identified in 2.4% of our cohort, involving 6.0% of fALS (13.3% of fALS-ALS, and 1.9% of fALS-ND, p value < 0.0001), and 1.2% of sALS (Table 2). Here, TARDBP is linked to amyotrophic lateral sclerosis.