Missense PANK2 mutation without “Eye of the tiger” sign: MR findings in a large group of patients with pantothenate kinase‐associated neurodegeneration (PKAN)

Abstract

Our findings support the hypothesis that the absence of the "tiger's eye" in PKAN might be secondary, probably caused by an increased accumulation of iron. This could artificially increase FA and MD values and change fiber tracking results. Except for the fronto-basal tracts, white matter was preserved well. This encouraging finding might support efforts to develop further therapeutic strategies in this devastating dystonia.