జర్నల్ ఆఫ్ అల్జీమర్స్ డిసీజ్ & పార్కిన్సోనిజం

నైరూప్య

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

Jun Takeuchi, Kazuhiro Ito, Akitoshi Takeda, Hirotomo Saitsu, Naomichi Matsumoto and Yoshiaki Itoh

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.