To further explore the potential relationship between the genotype and phenotype, we analyzed the association between PANK2 mutation types (homozygous vs. compound heterozygous mutations, biallelic missense vs. biallelic LoF), the PANK2 domain where the mutation occurs (TPM, I/R, CCR), and the phenotype (age of onset, age of lost gait) of patients with PKAN. This evidence concerns the gene PANK2 and pantothenate kinase-associated neurodegeneration.