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Objective To investigate epidemiological, clinical and genetic features of the first Chinese case of Creutzfeldt-Jakob disease (CJD) with mutation of E200K in PRNP. Methods The general epidemiological and clinical data were collected; CSF 14-3-3 protein was analyzedby Western blot; The PRNP was amplified by PCR and analyzed. Results A missense mutation in codon 200 (E200K) of the PRNP was identified in this patient; CSF 14-3-3 protein was positive; sleep disturbance was the initial sign and the other symptoms gradually appeared, including memory loss, dizziness and ataxia. Conclusion The CJD patient who was first reported in China has a missense mutation in codon 200 (E200K) of the PRNP, and the codon 129 is a methionine homozygous genotype.
关键词： CJD PRNP Sleep disturbance 14-3-3 -
Creutzfeldt-Jakob 病非侵入性诊断方法研究新进展
朊病毒是一种非常规意义上的传染性病原体，常导致致命性神经系统疾病，其中以 Creutzfeldt-Jakob病（CJD）为常见。CJD 属于一种罕见的神经系统退行性疾病，临床进展迅速，致死性达100％。此疾病有多种类型，其中以散发型为常见。目前此病的大挑战即临床诊断。到目前为止临床确诊的金标准仍为脑组织活检，但将其作为诊断金标准仍存在一定局限性。随着研究的逐步进展，亟需探讨新的非侵入性的检测（手段），以利于疾病诊断。本文就有关 CJD 生物标记物检测、基因筛查、影像学检查及电生理检查等非侵入性手段的研究进展进行综述，旨在协助 CJD 的诊断，为 CJD 的确诊提供新的思路。
