KIF1A and amyotrophic lateral sclerosis: Additionally, four of 14 mutations [p.V1255M (c.3763G>A, P8), p.P1593L (c.4778C>T, P10), p.D1643N (c.4927G>A, P11), and p.R1717L (c.5150G>T, P14)] were identified to be pathogenic according to the ACMG recommendations and software prediction results, highlighting the significance of the KIF1A gene as a potential genetic determinant of ALS.