致死性家族性失眠症一例的临床、病理及基因特征  

Clinical, histopathological and genetic studies in a case of fatal familial insomnia

作　　者：彭彬[1] 吕成[2] 杨真真[2] 吴旭[1] 陈新山[2] 卢祖能[1] 

机构地区：[1]武汉大学人民医院神经内科,430060 [2]华中科技大学同济医学院法医病理学教研室

出　　处：《中华神经科杂志》2012年第8期570-574,共5页Chinese Journal of Neurology

摘　　要：目的研究致死性家族性失眠症（fatal familial insomnia，FFI）患者的临床、病理及基因特征，并复习相关文献。方法分析1例FFI患者的临床特点，对死亡患者进行尸检和脑组织病理检查，并对患者及其家属血标本进行朊蛋白基因（PRNP）检测。结果该例患者的主要临床特征包括顽固性失眠、精神和夜间睡眠行为异常、行走不稳、吞咽困难、突然死亡以及阳性家族史。患者多处脑组织神经元丢失及胶质细胞增生，以丘脑为重；患者及其1名亲属PRNP检测分析显示D178N基因突变，并与129位甲硫氨酸等位基因连锁。结论FFI患者可表现为猝死，可有突出的精神症状；无症状携带者可出现相应基因突变；提供尸检和脑组织病理资料有助于进一步认识本病。Objective To explore clinical, histopathologieal and genetic features in a case of fatal familial insomnia （FFI） and related literatures were reviewed. Methods The clinical features in one patient with FFI were analyzed, and the dead patient was examined at autopsy and histopathological studies were performed on the brain tissues; and the blood samples from the patient and some of her familial members were collected for the sequencing of prion protein gene （PRNP）. Results The main clinical features included intractable insomnia, psychiatric symptoms and abnormal night sleep behavior, unsteady gait, difficulty swallowing, sudden death, and positive family history. The pathological studies showed multiple neuronal loss and gliosis of brain tissues from the proband, predominated in thalamus ; and analysis of PRNP revealed gene D178N mutation, and linkage with 129 methionine （Met） allele in the proband and a relative. Conclusions FFI patients may manifest as sudden death, and may have prominent psychiatric symptoms; the corresponding gene mutation could occur in the asymptomatic carriers ; the data of autopsy and brain tissue pathology is helpful for further understanding of this disease.

关 键 词：失眠症 致死性家族性 猝死 朊病毒 突变 

分 类 号：R740[医药卫生—神经病学与精神病学]