Pantothenate kinase-associated neurodegeneration: Novel mutations in the PANK2 gene in an argentinean young woman

Abstract

Neurodegeneration with brain iron accumulation (NBIA) refers to a heterogeneous group of disorders.1–3 The pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by defective iron metabolism associated with mutations in the pantothenate kinase 2 (PANK2) gene on chromosome 20p13–p12.3.