Early‐Onset Levodopa‐Responsive Parkinsonism with Normal Brain MRI Revealing Aceruloplasminemia

Aceruloplasminemia (ACP) is a rare autosomal recessive disorder of iron metabolism caused by biallelic variants in the ceruloplasmin (CP) gene.The classical phenotype combines diabetes mellitus, retinal degeneration, progressive neurological involvement and iron accumulation in multiple organs, 1 although atypical neurological presentations are increasingly recognized. 2 We describe a woman with genetically confirmed ACP presenting as early-onset, levodopa-responsive parkinsonism with early motor complications and normal brain MRI.