Four novel variants, c.967G>A (p.V323M), c.1450G>T (p.D484Y), c.1631T>C (p.M544T), and c.1915delG (p.A639Qfs*27) (Figure 1B), and five previously reported pathogenic mutations in PLA2G6, c.991G>T (p.D331Y), c.1077G>A (p.M358IfsX), c.1117G>A (p.G373R), c.1427+2T>A, and c.1670C>T (p.S557L) [6,18,19,20], were identified in six PLAN index cases. This evidence concerns the gene PLA2G6 and neurodegeneration with brain iron accumulation 2A.