2018-01-012024-05-17https://scholars.lib.ntu.edu.tw/handle/123456789/686118摘要：普利昂蛋白為庫賈氏病致病原，鳥類和哺乳類動物就有普利昂蛋白，其在生理的功能並不清楚。細胞普利昂蛋白（PrPcPc）經過異常折疊(misfolding)之後，變成具傳染性的病原體普利昂蛋白(PrPsc)。我國自1996年開始庫賈氏病之監測作業，國內迄今已累計逾400名病例，因本國民情，庫賈氏病患者死亡後接受解剖者極少，絕大多數病例都無法達到病理確診。 人類普利昂病的診斷主要還是採取多重準則的綜合性判斷，臨床和神經學的檢查是診斷普利昂病的要件，包括初急性失智、行為異常及步態不穩或肢體共濟失調，並在短期之內導致臥床。腦波的週期性銳波-慢波只出現在疾病的某些階段，磁振造影影像在特定部位出現訊號變化，腦脊髓液的蛋白質分析，但14-3-3蛋白在國人罹普利昂病的患者只有50%左右的敏感度。另外在追蹤我國400多例的病歷當中發現有些患者在發病後又存活了超過兩年的時間，這些患者需要進一步追蹤。 綜上所述，我們團隊將探討我國人類庫賈氏病之發生、臨床病程及流行病學相關因子，與各國進行比較，並將進一步發展新的生物標記以提昇診斷及防治量，並將研究結果做為擬定防疫政策及改良通報系統之參考。<br> Abstract: Prion is the pathogen of Creutzfeldt-Jakob disease. However, there are prion protein in avian and mammalian animal, it physiological functions remained unclear. After mis-folding, the non-infectious cellular prion protein（PrPcPc）is converted into pathogenic prion protein. Taiwan started to monitor Creutzfeldt-Jakob disease since 1996. We have accumulated more than 400 cases. Taiwanese people usually do not accept autopsy after death, therefore were not able to reach a pathological diagnosis in most of the cases. Diagnoses of human prion disease mainly rely on multiple criteria and a consensus judgement from clinical experts. Clinical and neurological examinations are the key for diagnosing prion disease. The findings are acute dementia, aberrant behaviors, unsteady gait and dementia. Patient would be bed ridden in a short period of time. The periodic sharp-and-slow-wave complexes only appear in some stage of the disease, MRI image may reveal signal change in some specific regions. However, the sensitivity of the 14-3-3 protein from the CSF of the patients with Creutzfeldt-Jakob disease is relative low of about 50%. On the other hand, we found some patients with Creutzfeldt-Jakob disease live longer than two years after their diagnoses. The patients should further be investigated and followed up. In summary，our team will explore the onset and clinical course of the disease, and investigate the prevalence to compare with other counties. We also will develop new biomarkers to improve our capability of diagnosing and controlling the disease. We would provide our research findings for health policy makers and for improving the system of report and registration for Creutzfeldt-Jakob disease in Taiwan.庫賈氏病普利昂蛋白腦波磁振造影生物標記Creutzfeldt-Jakob diseasePrionEEGMRIBiomarker