Study to establish the new classification of thalamic Creutzfeldt-Jakob disease

2020 Fiscal Year Final Research Report

• Project/Area Number: 19K22588
• Research Category: Grant-in-Aid for Challenging Research (Exploratory)
• Allocation Type: Multi-year Fund
• Review Section: Medium-sized Section 52:General internal medicine and related fields
• Research Institution: Tohoku University
• Principal Investigator: Kitamoto Tetsuyuki 東北大学, 医学系研究科, 教授 (20192560)
• Project Period (FY): 2019-06-28 – 2021-03-31
• Keywords: プリオン / 視床型CJD / FFI / ２つのプリオン / 新分類

Outline of Final Research Achievements

We have demonstrated that two phenotypes of patients with fatal familial insomnia mutation have a distinct infectivity each other. We also found these prions in patients with thalamic form of Creutzfeldt-Jakob diseases. We proposed to name a new prion as M2C(sv) which represents type 2 PrPres and spongiform encephalopathy (small vacuoles, sv) with codon 129 Met. A newly classified M2C(sv) prion has a distinct infectivity and should be distinguished from M2T prion.

Free Research Field

神経内科学

Academic Significance and Societal Importance of the Research Achievements

従来、FFIの中には、不眠症を示す典型例と認知症で発病するCJDのような非典型例が混在することが知られていたが、我々は両者のプリオンそのものが異なることを世界で初めて証明した。プリオンが異なるとは、当然感染性も異なるので、それぞれのヒトへの感染力を個別に評価しなければならない。