摘要
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 and mutation of pathogenic genes in patients with neurodegeneration with brain iron accumulation （NBIA）. Methods Five patients from one family with NBIA were assessed according to their clinical features. Mutations of PLA2G6 gene were screened with polymerase chain reaction combined with DNA direct sequencing. Results The main symptom of these patients with NBIA was extrapyramidal syndrome. T2 weighted MRI scans showed remarkable low signal intensity localized to bilateral globus pallidus and substantia nigra. In patients of same family, bilateral hyperintense signal was presented within a hypointense region in the medial globus pallidus. No pathogenetic mutations in the PLA2G6 gene were detected in this group. PLA2G6 polymorphism c. G87A was found. Conclusion NBIA can be diagnosed on the basis of clinical and brain MRI. PLA2G6 mutations are rare in Chinese patients with NBIA.
出处
《中华实用诊断与治疗杂志》
2012年第8期739-740,743,共3页
Journal of Chinese Practical Diagnosis and Therapy
基金
国家自然科学基金(81100881)
