அல்சைமர்ஸ் நோய் மற்றும் பார்கின்சோனிசத்தின் ஜர்னல்

சுருக்கம்

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.