The clinical characteristics of genetic Creutzfeldt-Jakob disease (gCJD) with a V180I mutation in the PRNP gene (V180I gCJD) are unique: elderly-onset, gradual progression, sporadic fashion, and cortical oedematous hyper-intensity on diffusion-weighted MRI (DW-MRI). This phenotype may become a potential target of future clinical therapeutic trials. The average disease duration of V180I gCJD patients is 23-27 months; however, considerably long-term survivors are also reported. The factors influencing survival and the clinicopathological characteristics of long-term survivors remain unknown. Herein, we report clinicopathological findings of a long-term survivor of V180I gCJD. A 78-year old woman was admitted to our hospital due to dementia and left hand tremor approximately 1.5 months after symptom onset. Neurological examination revealed dementia, frontal signs, and left hand tremor at admission. She had no family history of dementia or other neurological disease. DW-MRI revealed cortical oedematous hyper-intensities in the bilateral frontal lobes and the right temporal and parietal lobes. PRNP gene analysis indicated a V180I mutation with methionine homozygosity at codon 129. The symptoms gradually progressed, and she died of aspiration pneumonia 61 months after symptom onset. Neuropathological examination revealed severe cerebral atrophy with moderate to severe gliosis, but the brainstem was well preserved. Various-sized and non-confluent vacuole type spongiform changes were extensively observed in the cerebral cortices. Prion protein (PrP) immunostaining revealed weak and synaptic-type PrP deposits in the cerebral cortices. We consider that long-term tube feeding, and very mild brainstem involvement may be associated with the long-term survival of our V180I gCJD patient.

中文翻译：

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V180I 遗传性克雅氏病长期幸存者的临床病理学发现。

PRNP 基因 (V180I gCJD) 中带有 V180I 突变的遗传性克雅氏病 (gCJD) 的临床特征是独特的：老年发病、逐渐进展、散发型和弥散加权 MRI (DW) 上的皮质水肿性高强度-MRI）。这种表型可能成为未来临床治疗试验的潜在目标。V180I gCJD患者的平均病程为23-27个月；然而，也报告了相当长的长期幸存者。影响生存的因素和长期幸存者的临床病理特征仍然未知。在此，我们报告了 V180I gCJD 长期幸存者的临床病理学发现。一名 78 岁女性在症状出现后约 1.5 个月因痴呆和左手震颤入院。神经系统检查发现痴呆，入院时出现额部体征和左手震颤。她没有痴呆或其他神经系统疾病的家族史。DW-MRI 显示双侧额叶和右侧颞顶叶皮质水肿性高信号。PRNP基因分析显示第129位密码子存在蛋氨酸纯合子V180I突变，症状逐渐加重，发病61个月后死于吸入性肺炎。神经病理学检查显示严重脑萎缩伴中度至重度神经胶质增生，但脑干保存完好。在大脑皮质中广泛观察到各种大小和不融合的空泡型海绵状变化。朊病毒蛋白 (PrP) 免疫染色显示大脑皮质中存在微弱的突触型 PrP 沉积物。我们认为长期管饲，