A Male Case with β - Propeller Protein-Associated Neurodegeneration (BPAN) with Somatic Mosaic Mutation in WDR45

Jun Takeuchi, Kazuhiro Ito, Ak

Abstract

A 44 year old male presented with gait disturbance and showed rigidity, bradykinesia and small steppage gait. In his infancy, he had mental and motor retardation. MRI revealed pathognomonic iron deposition. He was diagnosed to have β-propeller protein-associated neurodegeneration (BPAN) with a de novo somatic mosaic mutation in WDR45.