PLA2G6 and neurodegeneration with brain iron accumulation 2A: The R3 proband (R3-1) was heterozygous for two reported variants, c.991 G>T (p.Asp331Tyr) and c.1427+1 G>A in PLA2G6 (16, 17), and PLA2G6-associated neurodegeneration (PLAN) was diagnosed.