Limited transmission of V180I genetic Creutzfeldt-Jakob disease in knock-in mice models.

Differentiating Creutzfeldt-Jakob disease (CJD) with the V180I mutation from other types of dementia is extremely difficult. Additionally, its differentiation is sometimes determined after performing neurosurgery, which is associated with a high risk of V180I prion contamination; however, the infectivity of the V180I prion has not been properly investigated. Especially in East Asia, this issue must be addressed to respond effectively to accidental contamination that leads to iatrogenic CJD. The results of our transmission experiments involving various humanized knock-in mice clearly indicate that the transmissibility of tissue from V180I genetic CJD cases is significantly limited.