Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation.
Maria SalsoneGennarina ArabiaGrazia AnnesiMonica GagliardiRita NisticoFabiana NovellinoLuigi Ferini-StrambiAndrea QuattroneAldo QuattronePublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2021)
For HA carriers, our findings demonstrate that GP was spared by iron accumulation over the time. The nigrostriatal presynaptic dopaminergic system was damaged while the cardiac sympathetic system remained longitudinally preserved, thus expanding the imaging features of this rare inherited disorder.