广东省家族性致死性失眠症一家系临床特征及基因突变分析

目的 研究广东省家族性致死性失眠症(FFI)一家系患者的临床特征以及朊蛋白基因突变检测.方法 总结来自广东的一个FFI家系2例患者的临床表现特征,应用聚合酶链反应(PCR)、DNA直接测序技术对1例患者进行朊蛋白基因突变检测.结果 先证者主要临床表现为进行性加重的睡眠障碍和行为、认知紊乱,病程后期出现肌阵挛,病程为9个月;先证者哥哥具有类似的临床表现,病程为11个月.先证者朊蛋白基因突变检测结果发现患者为朊蛋白D178N突变,第129位多态位点为甲硫氨酸纯合型.结论 典型的临床表现有助于FFI的诊断,朊蛋白基因检测有助于确诊FFI.

Detection of prion protein gene mutation in a pedigree with fatal familial insomnia from Guangdong province and the clinical manifestations of the disease

Objective To investigate the clinical features fatal familial insomnia (FFI) and detection of the prion protein (PRNP) gene mutation in a family with FFI from Guangdong province.Methods The clinical features were analyzed in 2 patients from the family with FFI. The PRNP gene mutation was detected by using PCR and DNA sequence analysis in the proband. Results The main symptoms of the proband were characterized by progressive sleep impairment, behavior and cognitive dysfunctions; myoclonus was appeared in the late period of the disease and the whole durations of the disease were 9 months. The elder brother of the proband had the similar clinical manifestations with the duration of 11 months. The prion protein D178N mutation and also homozygous for Met in the 129 codon were found in the proband. Conclusion The typical clinical manifestations can help the diagnosis of FFI and the technique of PRNP gene mutation detection could provide a definite diagnosis.