| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2020: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2019: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2018: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Outline of Final Research Achievements |
Fatal familial insomnia (FFI) is a genetic prion disease which is associated with the D178N point mutation at the prion protein (PrP) gene. Although the hallmark pathologic feature is thalamic and olivary degeneration, there is an atypical FFI patient without the hallmark feature. We compared one atypical clinicopathologic FFI phenotype case and typical FFI phenotype cases or sporadic fatal insomnia (sFI) cases with protein misfolding cyclic amplification (PMCA). PMCA could amplify both typical FFI cases and sFI cases but not the atypical FFI phenotype or other sporadic Creutzfeldt-jakob disease subtypes. In addition to clinical findings and neuropathological features, the transmission properties using humanized knock-in mice and the amplification properties were also different between the typical and the atypical FFI phenotyps. It is suggested that two distinct prions were associated with the diversity in the FFI phenotype.
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