Clinical features and genetic characteristics of two Chinese pedigrees with fatal family insomnia
Clinical features and genetic characteristics of two Chinese pedigrees with fatal family insomnia
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两个致死性家族性失眠中国家系的临床特征及遗传特征
DOI：
10.1080/19336896.2019.1617027
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发表时间：
2019-01-01
期刊：
影响因子：
2.3
通讯作者：
Sun, Qiying
中科院分区：
文献类型：
--
作者：
He, Runcheng;Hu, Yacen;Sun, Qiying
背景资料：致死性家族性失眠症（FFI）是一种罕见的常染色体显性遗传性朊病毒病，临床表现为严重的睡眠障碍、运动体征、自主神经功能障碍和行为异常。FFI是由朊病毒蛋白基因（PRNP）密码子178处的错义突变引起的。本研究旨在探讨两个中国FFI家系的典型临床和遗传学特征，并复习相关文献。方法：我们收集了两例有家族史的FFI病例。本文分析了这两例FFI的主要临床特征、遗传学特征和可能的病理生理机制。结果：主要症状为睡眠障碍和精神病性。还经常观察到进行性交感神经症状、运动障碍和记忆丧失。脑电图（EEG）显示轻微减慢，无周期性三相波。多导睡眠图（PSG）显示总睡眠时间减少和睡眠相关呼吸障碍。脑磁共振成像（MRI）未见明显异常。遗传分析发现朊蛋白基因第178位密码子突变（D178N），第129位多态性位点为蛋氨酸纯合（Met129Met）。结论：国人FFI的主要临床特征为睡眠障碍、精神症状和交感神经症状。我们的患者具有与典型FFI病例相似的临床特征。
Background: Fatal familial insomnia (FFI) is a rare autosomal-dominant inherited prion disease characterized clinically by severe sleep disorder, motor signs, dysautonomia and abnormal behaviour. FFI is caused by a missense mutation at codon 178 of the prion protein gene (PRNP). Our study is aimed to explore typical clinical and genetic features of two Chinese pedigrees with FFI and review the related literatures. Methods: Two FFI cases with family histories were recruited in our study. The main clinical features, genetic features and possible pathophysiologic mechanisms of these two FFI cases were analysed. Results: The foremost symptoms seemed to be sleep disturbances and psychosis. Progressive sympathetic symptoms, movement disturbances and memory loss were frequently observed as well. Electroencephalography (EEG) showed a minor slowing without periodic triphasic waves. Polysomnography (PSG) showed reduction in total sleep time and disturbance of sleep-related respiratory. Brain magnetic resonance imaging (MRI) did not reveal obvious abnormality. Genetic analysis disclosed the prion protein gene mutation at codon 178 (D178N), with methionine (Met) homozygosity at the polymorphic position 129 (Met129Met). Conclusions: The major clinical features of Chinese FFI are sleep dysfunction, psychiatric symptoms and sympathetic symptoms. Our patients have similar clinical characteristics as that of the typical FFI cases.