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Hindi Case Report
A Male Case with β - Propeller Protein-Associated Neurodegeneration (BPAN) with Somatic Mosaic Mutation in WDR45
Jun Takeuchi1, Kazuhiro Ito1, Akitoshi Takeda1, Hirotomo Saitsu2, Naomichi Matsumoto3 and Yoshiaki Itoh1*1Department of Neurology, Osaka City University, Graduate School of Medicine, Osaka, Japan
2Department of Biochemistry, Hamamatsu University, School of Medicine, Hamamatsu, Japan
3Department of Human Genetics, Yokohama City University, Graduate School of Medicine, Yokohama, Japan
- *Corresponding Author:
- Yoshiaki Itoh
Department of Neurology, Osaka City University
Graduate School of Medicine, Osaka 545-8585, Japan
Tel: +81-6- 6645-3889
E-mail: y-itoh@med.osaka-cu.ac.jp
Received date September 10, 2016; Accepted date October 10, 2016; Published date October 17, 2016
Citation: Takeuchi J, Ito K, Takeda A, Saitsu H, Matsumoto N, et al. (2016) A Male Case with β-Propeller Protein-Associated Neurodegeneration (BPAN) with Somatic Mosaic Mutation in WDR45. J Alzheimers Dis Parkinsonism 6:270. doi:10.4172/2161-0460.1000270
Copyright: © 2016 Takeuchi J, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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.
