Neurodegeneration with brain iron accumulation type 4

Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of hereditary disorders characterized by iron accumulation in the brain, predominantly affecting the basal ganglia. These conditions present with multisystem clinical manifestations, most notably motor, cognitive, and behavioral disorders. To date, ten variants of NBIA have been identified, with BPAN, PKAN, and PLAN being the most common. This report presents five confirmed cases of type 4 NBIA, termed mitochondrial membrane protein-associated neurodegeneration (MPAN), detailing clinical and neuroimaging findings and its molecular genetic characteristics; MPAN is associated with mutations in the C19orf12 gene encoding a mitochondrial membrane protein.