Sato Ryota, Koga Michiaki, Iwama Kazuhiro, Mizuguchi Tsuyoshi, Matsumoto Naomichi, Kanda Takashi
Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine.
Department of Human Genetics, Yokohama City University Graduate School of Medicine.
Rinsho Shinkeigaku. 2020 May 26;60(5):317-320. doi: 10.5692/clinicalneurol.cn-001324. Epub 2020 Apr 18.
Beta-propeller protein-associated neurodegeneration (BPAN) is categorized in Neurodegeneration with brain iron accumulation. The clinical feature of BPAN is global developmental delay in early childhood, followed rapid progression of cognitive disfunction and parkinsonism in adulthood. This case was pointed out intellectual disability at the age of 9, followed left dominant progressive parkinsonism from the age of 31. Brain MRI showed the T-weighted signal hyperintensity of the substantia nigra with a central band of hypointensity and the T star weighted image hypointensity of substantia nigra and globus pallidus presenting dominant at right side. DAT SPECT also showed specific binding ratio decreased dominant in right side. She was diagnosed BPAN based on her genetic test revealing a novel mutation (c.411dupT) in WDR45. No studies reported detailed parkinsonism like laterality in BPAN. This case indicates the left dominant parkinsonism was caused by right dominant iron deposition to substantia nigra and globus pallidus in view of MRI findings and DAT SPECT.
β-螺旋桨蛋白相关神经退行性变（BPAN）归类于脑铁沉积性神经退行性变。BPAN的临床特征为儿童早期全面发育迟缓，随后在成年期认知功能障碍和帕金森症快速进展。该病例9岁时被指出存在智力残疾，31岁起出现左侧为主的进行性帕金森症。脑部磁共振成像（MRI）显示黑质T加权像信号高增强，中间有条低增强带，黑质和苍白球的T2*加权像低增强，右侧更为明显。多巴胺转运体单光子发射计算机断层扫描（DAT SPECT）也显示右侧特异性结合率明显降低。基于基因检测发现WDR45基因存在新突变（c.411dupT），她被诊断为BPAN。尚无研究报道BPAN中像偏侧性这样详细的帕金森症情况。鉴于MRI结果和DAT SPECT，该病例提示左侧为主的帕金森症是由右侧黑质和苍白球铁沉积为主所致。
