Overview
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare form of neurodegeneration with brain iron accumulation (NBIA), with an estimated prevalence of 1:1,000,000 (Hayflick et al., 2006). PKAN is caused by mutations in the PANK2 gene (Zhou et al., 2001), which encodes the enzyme pantothenate kinase 2. This enzyme plays a crucial role in the first regulatory step of coenzyme A biosynthesis, essential for intermediary and fatty acid metabolism.