CAJ | 학술논문

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.
목적 연구광동성가족성치사성실면증(FFI)일가계환자적림상특정이급원단백기인돌변검측.방법 총결래자엄동적일개FFI가계2례환자적림상표현특정,응용취합매련반응(PCR)、DNA직접측서기술대1례환자진행원단백기인돌변검측.결과 선증자주요림상표현위진행성가중적수면장애화행위、인지문란,병정후기출현기진련,병정위9개월;선증자가가구유유사적림상표현,병정위11개월.선증자원단백기인돌변검측결과발현환자위원단백D178N돌변,제129위다태위점위갑류안산순합형.결론 전형적림상표현유조우FFI적진단,원단백기인검측유조우학진FFI.
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.