f 2014 ン 2 - prion.umin.jp

1 2014.. 2014. 1. 2002 1. 2008. 2014 2. i H24 12. H25 1. H25 3. H25 4. H24 3. H24 4. H25 3. H25 4. MRI. H23 9. H23 10. SSPE. H24 8. H24 9. H25 3. H25 3. H25 4. PML. H24 3. ii H24 4. - H25 3. H25 4. iii iv i ii iii iv 1. 3. 7. 7. 11. 18. 18. 21. 25. 25. 28. 32. 34. 38. 39. 41. 2. 2014. 23 7 11. 23. 24 1 16. 1. Minds 2007.. Minds 2007. 2007.. prion transmissible spongiform encephalopathies: TSE. PrP. 1. PrP cellular prion protein: PrPC 20. PrPC 253 22. 230 GPI 181 197. 51 91 8 PrPC. scrapie prion protein: PrPSc * PrPC PrPSc PrP. Sc PrP PrPC PrPSc PrPSc PrPSc PrP 129 219. * "variably protease-sensitive prionopathy" VPSPr Zou WQ et al. Ann Neurol 2010.

2 68:162-172. A. scrapie bovine spongiform encephalopathy: BSE. chronic wasting disease: CWD. B. Creutzfeldt-Jakob CJD. "Variably protease-sensitive prionopathy" VPSPr *. CJD. Gerstmann-Str ussler-Scheinker GSS. fatal familial insomnia: FFI. kuru CJD. CJD variant CJD: vCJD. [ CJD]* PrP. -1. 2. 100. CJD 3. -1 vCJD 1 dCJD dCJD. 144 2012 9 -2. CJD sporadic CJD. CJD. 3 4. PrP. 129 PrP. genetic prion diseases : PrP. PrP. GSS CJD CJD CJD. FFI. environmentally acquired prion diseases CJD dCJD. CJD vCJD. BSE vCJD. 3. BSE. -2. CJD. MRI PrP. PrP. HP. 4. 5. HP. CJD. CJD CJD. 6. 6. 5 1. HP 1. Colby DW, Prusiner SB. Prions. Cold Spring Harb Perspect Biol 2011; 3: a006833.

3 Review. 2. Nozaki I, Hamaguchi T, Sanjo N, Noguchi-Shinohara M, Sakai K, Nakamura Y, et al. Prospective 10-year surveillance of human prion diseases in Japan. Brain 2010; 133: 3043-3057. 3. Yamada M, Variant CJD Working Group, Creutzfeldt-Jakob Disease Surveillance Committee, Japan. The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram. Lancet 2006; 367: 874. 4. CJD GSS FFI. 5. 6.. CJD VPSPr variably protease-sensitive prionopathy 8 PrP. 100 1 50. 60 80. World Health Organization: WHO. 1, 2 3. -1. 4 1, 2, 3. 5. PrP. PrP 1 2 PrP. 129 MM MV VV. CJD MM1 MM2 MV1 MV2 VV1 VV2 6 MM2. 6. MM2- MM2- -2 MM1.

4 5, 6. MV1 CJD MM2- MM2- MV2 VV2. 5, 7. VV1. 3 1. 2 /. 3. 1. 8. 1. I. Masters A. definite B. probable 1-3. 1. 2. 4 2. a. b. c. d. 3. PSD. C. possible B 1 2 PSD. II. WHO 2. C possible PSD 14-3-3. 2 probable 1. Masters CL, Harris JO, Gajdusek DC, Gibbs CJ Jr, Bernoulli C, Asher DM. Creutzfeldt-Jakob disease: patterns of worldwide occurrence and the significance of familial and sporadic clustering. Ann Neurol 1979; 5: 177-188. 2. WHO. WHO Manual for Strengthening Diagnosis and Surveillance of Creutzfeldt-Jakob Disease. World Health Organization. Geneva, 1998. 3. 2002. 4. Iwasaki Y, Mimuro M, Yoshida M, Sobue G, Hashizume Y. Clinical diagnosis of Creutzfeldt-Jakob disease: Accuracy based on analysis of autopsy-confirmed cases.

5 J Neurol Sci 2009; 277:119-123. 5. Iwasaki Y, Yoshida M, Hashizume Y, Kitamoto T, Sobue G. Clinicopathologic characteristics of sporadic Japanese Creutzfeldt-Jakob disease classified according to prion protein gene polymorphism and prion protein type. Acta Neuropathol 2006; 112: 561-571. 6. Parchi P, Giese A, Capellari S, Brown P, Schulz-Schaeffer W, Windl O, et al. Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol 1999; 46: 224-233. 7. Nozaki I, Hamaguchi T, Sanjo N, Noguchi-Shinohara M, Sakai K, Nakamura Y, et al. Prospective 10-year surveillance of human prion diseases in Japan.

6 Brain 2010; 133: 3043-3057. 8. Iwasaki Y, Mimuro M, Yoshida M, Kitamoto T, Hashizume Y. Survival to akinetic mutism state in Japanese cases of MM1-type sporadic Creutzfeldt-Jakob disease is similar to Caucasians. Eur J Neurol 2011; 18: 999-1002.. 3. MM1 MV1 CJD MM2- MM2- MV2 VV1 VV2 III-2. CJD III-3 CJD. 4. III-2. 1) MM1 MV1. 3 ,4. 3-7 III-2. 2) MM2- MM2- VV1 VV2. MM2- MM2- 3, 5 ,6. III-4 1-2. 3, 7, 8. MM2- MM2- VV1 VV2 VV1. VV2. 1/3 PSD. CJD. 9, 10, 11, 12. 1) MR FLAIR III-1. III-5 III- 2 4, 13. 2) 14-3-3. 14, 15, 16. CJD CJD 14-3-3. 16 15. CJD 14-3-3. 17, 18 19, 20. III-6 14-3-3 CJD III-7 Atarashi RT-QUIC CJD. 21. 3) Steinhoff PSD PSD 45%.

7 90 % CJD PSD. PSD CJD. 2. WHO III-1 WHO. III-1. MRI. 9. EuroCJD Zerr MRI CJD. CJD. MRI. 1. Masters CL, Harris JO, Gajdusek DC, Gibbs CJ Jr, Bernoulli C, Asher DM. Creutzfeldt-Jakob disease: patterns of worldwide occurrence and the significance of familial and sporadic clustering. Ann Neurol 1979; 5: 177-188. 2. Brandel JP, Delasnerie-Laupretre N, Laplanche JL, Hauw JJ, Alp rovitch A. Diagnosis of Creutzfeldt-Jakob disease: effect of clinical criteria on incidence estimates. Neurology 2000; 54: 1095-1099. 3. Parchi P, Giese A, Capellari S, Brown P, Schulz-Schaeffer W, Windl O, et al. Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects.

8 Ann Neurol 1999; 46: 224-233. 4. Nozaki I, Hamaguchi T, Sanjo N, Noguchi-Shinohara M, Sakai K, Nakamura Y, et al. Prospective 10-year surveillance of human prion diseases in Japan. Brain 2010; 133: 3043-3057. 5. Krasnianski A, Meissner B, Schulz-Schaeffer W, Kallenberg K, Bartl M, Heinemann U, et al. Clinical features and diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease. Arch Neurol 2006; 63: 876-880. 6. Hamaguchi T, Kitamoto T, Sato T, Mizusawa H, Nakamura Y, Noguchi M, et al. Clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease. Neurology 2005; 64: 643-648. 7. Parchi P, Capellari S, Chin S, Schwarz HB, Schecter NP, Butts JD, et al.

9 A subtype of sporadic prion disease mimicking fatal familial insomnia. Neurology 1999; 52: 1757-1763. 8. Moda F, Suardi S, Di Fede G, Indaco A, Limido L, Vimercati C, et al. MM2-Thalamic Creutzfeldt-Jakob Disease: Neuropathological, Biochemical and Transmission Studies Identify a Distinctive Prion Strain. Brain Pathol 2012; 22: 662-669. 9. Zerr I, Kallenberg K, Summers DM, Romero C, Taratuto A, Heinemann U, et al. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Brain 2009; 132: 2659-1668. 10. Shiga Y, Miyazawa K, Sato S, Fukushima R, Shibuya S, Sato Y, et al. Diffusion-weighted MRI abnormalities as an early diagnostic marker for Creutzfeldt-Jakob disease.

10 Neurology 2004; 63: 443-449. 11. Meissner B, Kallenberg K, Sanchez-Juan P, Collie D, Summers DM, Almonti S, et al. MRI lesion profiles in sporadic Creutzfeldt-Jakob disease. Neurology 2009; 72: 1994-2001. 12. Fujita K, Harada M, Sasaki M, Yuasa T, Sakai K, Hamaguchi T, et al. Multicentre multiobserver study of diffusion-weighted and fluid-attenuated inversion recovery MRI for the diagnosis of sporadic Creutzfeldt-Jakob disease: a reliability and agreement study. BMJ Open 2012; 2:e000649. 13. Satoh K, Shirabe S, Eguchi H, Tsujino A, Eguchi K, Satoh A, et al. 14-3-3 protein, total tau and phosphorylated tau in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease and neurodegenerative disease in Japan.