Histological analyses of a BPAN patient with a loss-of-function mutation (p.Leu232Alafs*53) in WDR45 showed mild atrophy and Tau-positive neurofibrillary tangles in hippocampus, and mild Purkinje cell depletion in cerebellum6. The gene discussed is WDR45; the disease is neurodegeneration with brain iron accumulation 5.