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目的探讨苍白球黑质红核色素变性病(neurodegeneration with brain iron accumulation,NBIA)的临床特征及相关致病基因突变。方法回顾性分析同一NBIA家系的临床特征,应用PCR结合DNA直接测序法进行PLA2G6基因突变检测。结果 NBIA的主要临床表现为锥体外系症状;影像学表现为头部MRI T2加权像呈双侧苍白球、黑质部位对称性低信号,苍白球低信号区的前内侧出现高信号;NBIA家系患者未发现PLA2G6基因的致病突变,发现1个多态,为c.G87A。结论 NBIA临床诊断可根据临床表现及影像学特征表现,中国人NBIA患者PLA2G6基因突变可能罕见。
Objective To investigate the clinical features of the globus pallidus neurodegeneration with brain iron accumulation (NBIA) and its related mutations. Methods The clinical features of the same NBIA pedigree were retrospectively analyzed. The mutation of PLA2G6 gene was detected by PCR combined with DNA direct sequencing. Results The main clinical manifestations of NBIA were extrapyramidal symptoms. The MRI findings showed that the MRI T2-weighted images of the head showed bilateral globus pallidus and the symmetry of the substantia nigra was low and the anteromedial side of the globus pallidus hypointense region showed high signal. The NBIA pedigree Patients found no pathogenic mutation PLA2G6 gene, found a polymorphism, c.G87A. Conclusion NBIA clinical diagnosis can be based on clinical manifestations and imaging features of the Chinese people NBIA patients PLA2G6 gene mutations may be rare.