7-Tesla Magnetic Resonance Imaging for Brain Iron Quantification in Homozygous and Heterozygous Mutation Carriers.

Pantothenate-kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by iron deposits in basal ganglia. The aim of this study was to quantify iron concentrations of deep gray matter structures in heterozygous mutation carriers and in PKAN patients using quantitative susceptibility mapping MRI. By determining iron concentration, we intended to find mutation-specific brain parenchymal stigmata in heterozygous mutation carriers in comparison to age-matched healthy volunteers.