PLAN is an ultra-rare autosomal recessive disorder caused by mutations in the PLA2G6 gene. The incidence of PLAN is 1-2 per million. It is comprised of three types: infantile PLAN, juvenile PLAN, and adult PLAN. PLAN is characterized by axonal swelling and degeneration (spheroids) in the central nervous system as well as peripheral nerves. It is considered a form of Neurodegeneration with Brain Iron Accumulation characterized by abnormal iron accumulation in the globus pallidus, as well as cerebellar atrophy and other findings. Common clinical features vary by type.
PLA2G6