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Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 2005 Jul;76(7):906–919. doi: 10.1136/jnnp.2004.048660

Molecular neurology of prion disease

J Collinge 1
PMCID: PMC1739714  PMID: 15965195

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Selected References

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  1. Adjou Karim Tarik, Simoneau Steve, Salès Nicole, Lamoury François, Dormont Dominique, Papy-Garcia Dulce, Barritault Denis, Deslys Jean-Philippe, Lasmézas Corinne Ida. A novel generation of heparan sulfate mimetics for the treatment of prion diseases. J Gen Virol. 2003 Sep;84(Pt 9):2595–2603. doi: 10.1099/vir.0.19073-0. [DOI] [PubMed] [Google Scholar]
  2. Aguzzi A. Neuro-immune connection in spread of prions in the body? Lancet. 1997 Mar 15;349(9054):742–743. doi: 10.1016/S0140-6736(97)22011-8. [DOI] [PubMed] [Google Scholar]
  3. Alper T., Cramp W. A., Haig D. A., Clarke M. C. Does the agent of scrapie replicate without nucleic acid? Nature. 1967 May 20;214(5090):764–766. doi: 10.1038/214764a0. [DOI] [PubMed] [Google Scholar]
  4. Alper T., Haig D. A., Clarke M. C. The exceptionally small size of the scrapie agent. Biochem Biophys Res Commun. 1966 Feb 3;22(3):278–284. doi: 10.1016/0006-291x(66)90478-5. [DOI] [PubMed] [Google Scholar]
  5. Arnold J. E., Tipler C., Laszlo L., Hope J., Landon M., Mayer R. J. The abnormal isoform of the prion protein accumulates in late-endosome-like organelles in scrapie-infected mouse brain. J Pathol. 1995 Aug;176(4):403–411. doi: 10.1002/path.1711760412. [DOI] [PubMed] [Google Scholar]
  6. Asante Emmanuel A., Linehan Jacqueline M., Desbruslais Melanie, Joiner Susan, Gowland Ian, Wood Andrew L., Welch Julie, Hill Andrew F., Lloyd Sarah E., Wadsworth Jonathan D. F. BSE prions propagate as either variant CJD-like or sporadic CJD-like prion strains in transgenic mice expressing human prion protein. EMBO J. 2002 Dec 2;21(23):6358–6366. doi: 10.1093/emboj/cdf653. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Aucouturier P., Geissmann F., Damotte D., Saborio G. P., Meeker H. C., Kascsak R., Kascsak R., Carp R. I., Wisniewski T. Infected splenic dendritic cells are sufficient for prion transmission to the CNS in mouse scrapie. J Clin Invest. 2001 Sep;108(5):703–708. doi: 10.1172/JCI13155. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Bateman D., Hilton D., Love S., Zeidler M., Beck J., Collinge J. Sporadic Creutzfeldt-Jakob disease in a 18-year-old in the UK. Lancet. 1995 Oct 28;346(8983):1155–1156. doi: 10.1016/s0140-6736(95)91828-0. [DOI] [PubMed] [Google Scholar]
  9. Beekes M., McBride P. A., Baldauf E. Cerebral targeting indicates vagal spread of infection in hamsters fed with scrapie. J Gen Virol. 1998 Mar;79(Pt 3):601–607. doi: 10.1099/0022-1317-79-3-601. [DOI] [PubMed] [Google Scholar]
  10. Bencsik A., Lezmi S., Baron T. Autonomic nervous system innervation of lymphoid territories in spleen: a possible involvement of noradrenergic neurons for prion neuroinvasion in natural scrapie. J Neurovirol. 2001 Oct;7(5):447–453. doi: 10.1080/135502801753170309. [DOI] [PubMed] [Google Scholar]
  11. Bernoulli C., Siegfried J., Baumgartner G., Regli F., Rabinowicz T., Gajdusek D. C., Gibbs C. J., Jr Danger of accidental person-to-person transmission of Creutzfeldt-Jakob disease by surgery. Lancet. 1977 Feb 26;1(8009):478–479. doi: 10.1016/s0140-6736(77)91958-4. [DOI] [PubMed] [Google Scholar]
  12. Bessen R. A., Marsh R. F. Biochemical and physical properties of the prion protein from two strains of the transmissible mink encephalopathy agent. J Virol. 1992 Apr;66(4):2096–2101. doi: 10.1128/jvi.66.4.2096-2101.1992. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Bessen R. A., Marsh R. F. Distinct PrP properties suggest the molecular basis of strain variation in transmissible mink encephalopathy. J Virol. 1994 Dec;68(12):7859–7868. doi: 10.1128/jvi.68.12.7859-7868.1994. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Blättler Thomas. Implications of prion diseases for neurosurgery. Neurosurg Rev. 2002 Jun 18;25(4):195–203. doi: 10.1007/s101430100170. [DOI] [PubMed] [Google Scholar]
  15. Bolton D. C., McKinley M. P., Prusiner S. B. Identification of a protein that purifies with the scrapie prion. Science. 1982 Dec 24;218(4579):1309–1311. doi: 10.1126/science.6815801. [DOI] [PubMed] [Google Scholar]
  16. Bons Nöelle, Lehmann Sylvain, Mestre-Francès Nadine, Dormont Dominique, Brown Paul. Brain and buffy coat transmission of bovine spongiform encephalopathy to the primate Microcebus murinus. Transfusion. 2002 May;42(5):513–516. doi: 10.1046/j.1537-2995.2002.00098.x. [DOI] [PubMed] [Google Scholar]
  17. Borchelt D. R., Scott M., Taraboulos A., Stahl N., Prusiner S. B. Scrapie and cellular prion proteins differ in their kinetics of synthesis and topology in cultured cells. J Cell Biol. 1990 Mar;110(3):743–752. doi: 10.1083/jcb.110.3.743. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Brandner S., Isenmann S., Raeber A., Fischer M., Sailer A., Kobayashi Y., Marino S., Weissmann C., Aguzzi A. Normal host prion protein necessary for scrapie-induced neurotoxicity. Nature. 1996 Jan 25;379(6563):339–343. doi: 10.1038/379339a0. [DOI] [PubMed] [Google Scholar]
  19. Britton T. C., al-Sarraj S., Shaw C., Campbell T., Collinge J. Sporadic Creutzfeldt-Jakob disease in a 16-year-old in the UK. Lancet. 1995 Oct 28;346(8983):1155–1155. doi: 10.1016/s0140-6736(95)91827-2. [DOI] [PubMed] [Google Scholar]
  20. Brown P. Can Creutzfeldt-Jakob disease be transmitted by transfusion? Curr Opin Hematol. 1995 Nov;2(6):472–477. doi: 10.1097/00062752-199502060-00012. [DOI] [PubMed] [Google Scholar]
  21. Brown P., Cathala F., Raubertas R. F., Gajdusek D. C., Castaigne P. The epidemiology of Creutzfeldt-Jakob disease: conclusion of a 15-year investigation in France and review of the world literature. Neurology. 1987 Jun;37(6):895–904. doi: 10.1212/wnl.37.6.895. [DOI] [PubMed] [Google Scholar]
  22. Brown P., Cervenáková L., McShane L. M., Barber P., Rubenstein R., Drohan W. N. Further studies of blood infectivity in an experimental model of transmissible spongiform encephalopathy, with an explanation of why blood components do not transmit Creutzfeldt-Jakob disease in humans. Transfusion. 1999 Nov-Dec;39(11-12):1169–1178. doi: 10.1046/j.1537-2995.1999.39111169.x. [DOI] [PubMed] [Google Scholar]
  23. Brown P., Preece M. A., Will R. G. "Friendly fire" in medicine: hormones, homografts, and Creutzfeldt-Jakob disease. Lancet. 1992 Jul 4;340(8810):24–27. doi: 10.1016/0140-6736(92)92431-e. [DOI] [PubMed] [Google Scholar]
  24. Brown P., Preece M., Brandel J. P., Sato T., McShane L., Zerr I., Fletcher A., Will R. G., Pocchiari M., Cashman N. R. Iatrogenic Creutzfeldt-Jakob disease at the millennium. Neurology. 2000 Oct 24;55(8):1075–1081. doi: 10.1212/wnl.55.8.1075. [DOI] [PubMed] [Google Scholar]
  25. Bruce M. E., Will R. G., Ironside J. W., McConnell I., Drummond D., Suttie A., McCardle L., Chree A., Hope J., Birkett C. Transmissions to mice indicate that 'new variant' CJD is caused by the BSE agent. Nature. 1997 Oct 2;389(6650):498–501. doi: 10.1038/39057. [DOI] [PubMed] [Google Scholar]
  26. Bruce M., Chree A., McConnell I., Foster J., Pearson G., Fraser H. Transmission of bovine spongiform encephalopathy and scrapie to mice: strain variation and the species barrier. Philos Trans R Soc Lond B Biol Sci. 1994 Mar 29;343(1306):405–411. doi: 10.1098/rstb.1994.0036. [DOI] [PubMed] [Google Scholar]
  27. Büeler H., Aguzzi A., Sailer A., Greiner R. A., Autenried P., Aguet M., Weissmann C. Mice devoid of PrP are resistant to scrapie. Cell. 1993 Jul 2;73(7):1339–1347. doi: 10.1016/0092-8674(93)90360-3. [DOI] [PubMed] [Google Scholar]
  28. Büeler H., Fischer M., Lang Y., Bluethmann H., Lipp H. P., DeArmond S. J., Prusiner S. B., Aguet M., Weissmann C. Normal development and behaviour of mice lacking the neuronal cell-surface PrP protein. Nature. 1992 Apr 16;356(6370):577–582. doi: 10.1038/356577a0. [DOI] [PubMed] [Google Scholar]
  29. Caughey B., Raymond G. J. The scrapie-associated form of PrP is made from a cell surface precursor that is both protease- and phospholipase-sensitive. J Biol Chem. 1991 Sep 25;266(27):18217–18223. [PubMed] [Google Scholar]
  30. Collinge J., Beck J., Campbell T., Estibeiro K., Will R. G. Prion protein gene analysis in new variant cases of Creutzfeldt-Jakob disease. Lancet. 1996 Jul 6;348(9019):56–56. doi: 10.1016/s0140-6736(05)64378-4. [DOI] [PubMed] [Google Scholar]
  31. Collinge J., Brown J., Hardy J., Mullan M., Rossor M. N., Baker H., Crow T. J., Lofthouse R., Poulter M., Ridley R. Inherited prion disease with 144 base pair gene insertion. 2. Clinical and pathological features. Brain. 1992 Jun;115(Pt 3):687–710. doi: 10.1093/brain/115.3.687. [DOI] [PubMed] [Google Scholar]
  32. Collinge J., Harding A. E., Owen F., Poulter M., Lofthouse R., Boughey A. M., Shah T., Crow T. J. Diagnosis of Gerstmann-Sträussler syndrome in familial dementia with prion protein gene analysis. Lancet. 1989 Jul 1;2(8653):15–17. doi: 10.1016/s0140-6736(89)90256-0. [DOI] [PubMed] [Google Scholar]
  33. Collinge J. Human prion diseases and bovine spongiform encephalopathy (BSE). Hum Mol Genet. 1997;6(10):1699–1705. doi: 10.1093/hmg/6.10.1699. [DOI] [PubMed] [Google Scholar]
  34. Collinge J., Owen F., Poulter M., Leach M., Crow T. J., Rossor M. N., Hardy J., Mullan M. J., Janota I., Lantos P. L. Prion dementia without characteristic pathology. Lancet. 1990 Jul 7;336(8706):7–9. doi: 10.1016/0140-6736(90)91518-f. [DOI] [PubMed] [Google Scholar]
  35. Collinge J., Palmer M. S., Dryden A. J. Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease. Lancet. 1991 Jun 15;337(8755):1441–1442. doi: 10.1016/0140-6736(91)93128-v. [DOI] [PubMed] [Google Scholar]
  36. Collinge J., Palmer M. S., Dryden A. J. Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease. Lancet. 1991 Jun 15;337(8755):1441–1442. doi: 10.1016/0140-6736(91)93128-v. [DOI] [PubMed] [Google Scholar]
  37. Collinge J., Palmer M. S., Sidle K. C., Gowland I., Medori R., Ironside J., Lantos P. Transmission of fatal familial insomnia to laboratory animals. Lancet. 1995 Aug 26;346(8974):569–570. doi: 10.1016/s0140-6736(95)91405-6. [DOI] [PubMed] [Google Scholar]
  38. Collinge J., Palmer M. S., Sidle K. C., Hill A. F., Gowland I., Meads J., Asante E., Bradley R., Doey L. J., Lantos P. L. Unaltered susceptibility to BSE in transgenic mice expressing human prion protein. Nature. 1995 Dec 21;378(6559):779–783. doi: 10.1038/378779a0. [DOI] [PubMed] [Google Scholar]
  39. Collinge J., Poulter M., Davis M. B., Baraitser M., Owen F., Crow T. J., Harding A. E. Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases. Am J Hum Genet. 1991 Dec;49(6):1351–1354. [PMC free article] [PubMed] [Google Scholar]
  40. Collinge J. Prion diseases of humans and animals: their causes and molecular basis. Annu Rev Neurosci. 2001;24:519–550. doi: 10.1146/annurev.neuro.24.1.519. [DOI] [PubMed] [Google Scholar]
  41. Collinge J., Rossor M. A new variant of prion disease. Lancet. 1996 Apr 6;347(9006):916–917. doi: 10.1016/s0140-6736(96)91407-5. [DOI] [PubMed] [Google Scholar]
  42. Collinge J., Sidle K. C., Meads J., Ironside J., Hill A. F. Molecular analysis of prion strain variation and the aetiology of 'new variant' CJD. Nature. 1996 Oct 24;383(6602):685–690. doi: 10.1038/383685a0. [DOI] [PubMed] [Google Scholar]
  43. Collinge J. Variant Creutzfeldt-Jakob disease. Lancet. 1999 Jul 24;354(9175):317–323. doi: 10.1016/S0140-6736(99)05128-4. [DOI] [PubMed] [Google Scholar]
  44. Collins S., Law M. G., Fletcher A., Boyd A., Kaldor J., Masters C. L. Surgical treatment and risk of sporadic Creutzfeldt-Jakob disease: a case-control study. Lancet. 1999 Feb 27;353(9154):693–697. doi: 10.1016/s0140-6736(98)08138-0. [DOI] [PubMed] [Google Scholar]
  45. Creutzfeldt-Jakob disease in a young woman. Lancet. 1996 Apr 6;347(9006):945–948. [PubMed] [Google Scholar]
  46. Doh-ura Katsumi, Ishikawa Kensuke, Murakami-Kubo Ikuko, Sasaki Kensuke, Mohri Shirou, Race Richard, Iwaki Toru. Treatment of transmissible spongiform encephalopathy by intraventricular drug infusion in animal models. J Virol. 2004 May;78(10):4999–5006. doi: 10.1128/JVI.78.10.4999-5006.2004. [DOI] [PMC free article] [PubMed] [Google Scholar]
  47. Dykxhoorn Derek M., Novina Carl D., Sharp Phillip A. Killing the messenger: short RNAs that silence gene expression. Nat Rev Mol Cell Biol. 2003 Jun;4(6):457–467. doi: 10.1038/nrm1129. [DOI] [PubMed] [Google Scholar]
  48. Enari M., Flechsig E., Weissmann C. Scrapie prion protein accumulation by scrapie-infected neuroblastoma cells abrogated by exposure to a prion protein antibody. Proc Natl Acad Sci U S A. 2001 Jul 24;98(16):9295–9299. doi: 10.1073/pnas.151242598. [DOI] [PMC free article] [PubMed] [Google Scholar]
  49. Flechsig E., Hegyi I., Enari M., Schwarz P., Collinge J., Weissmann C. Transmission of scrapie by steel-surface-bound prions. Mol Med. 2001 Oct;7(10):679–684. [PMC free article] [PubMed] [Google Scholar]
  50. Frosh Adam, Smith Lorraine C., Jackson Carl J., Linehan Jacqueline M., Brandner Sebastian, Wadsworth Jonathan D. F., Collinge John. Analysis of 2000 consecutive UK tonsillectomy specimens for disease-related prion protein. Lancet. 2004 Oct 2;364(9441):1260–1262. doi: 10.1016/S0140-6736(04)17143-2. [DOI] [PubMed] [Google Scholar]
  51. Ghani A. C., Ferguson N. M., Donnelly C. A., Anderson R. M. Predicted vCJD mortality in Great Britain. Nature. 2000 Aug 10;406(6796):583–584. doi: 10.1038/35020688. [DOI] [PubMed] [Google Scholar]
  52. Ghani A. C., Ferguson N. M., Donnelly C. A., Hagenaars T. J., Anderson R. M. Epidemiological determinants of the pattern and magnitude of the vCJD epidemic in Great Britain. Proc Biol Sci. 1998 Dec 22;265(1413):2443–2452. doi: 10.1098/rspb.1998.0596. [DOI] [PMC free article] [PubMed] [Google Scholar]
  53. Gibbs C. J., Jr, Gajdusek D. C., Asher D. M., Alpers M. P., Beck E., Daniel P. M., Matthews W. B. Creutzfeldt-Jakob disease (spongiform encephalopathy): transmission to the chimpanzee. Science. 1968 Jul 26;161(3839):388–389. doi: 10.1126/science.161.3839.388. [DOI] [PubMed] [Google Scholar]
  54. Gilch Sabine, Wopfner Franziska, Renner-Müller Ingrid, Kremmer Elisabeth, Bauer Christine, Wolf Eckhard, Brem Gottfried, Groschup Martin H., Schätzl Hermann M. Polyclonal anti-PrP auto-antibodies induced with dimeric PrP interfere efficiently with PrPSc propagation in prion-infected cells. J Biol Chem. 2003 Mar 11;278(20):18524–18531. doi: 10.1074/jbc.M210723200. [DOI] [PubMed] [Google Scholar]
  55. Glatzel Markus, Abela Eugenio, Maissen Manuela, Aguzzi Adriano. Extraneural pathologic prion protein in sporadic Creutzfeldt-Jakob disease. N Engl J Med. 2003 Nov 6;349(19):1812–1820. doi: 10.1056/NEJMoa030351. [DOI] [PubMed] [Google Scholar]
  56. Griffith J. S. Self-replication and scrapie. Nature. 1967 Sep 2;215(5105):1043–1044. doi: 10.1038/2151043a0. [DOI] [PubMed] [Google Scholar]
  57. Hannon Gregory J. RNA interference. Nature. 2002 Jul 11;418(6894):244–251. doi: 10.1038/418244a. [DOI] [PubMed] [Google Scholar]
  58. Heppner F. L., Christ A. D., Klein M. A., Prinz M., Fried M., Kraehenbuhl J. P., Aguzzi A. Transepithelial prion transport by M cells. Nat Med. 2001 Sep;7(9):976–977. doi: 10.1038/nm0901-976. [DOI] [PubMed] [Google Scholar]
  59. Heppner F. L., Musahl C., Arrighi I., Klein M. A., Rülicke T., Oesch B., Zinkernagel R. M., Kalinke U., Aguzzi A. Prevention of scrapie pathogenesis by transgenic expression of anti-prion protein antibodies. Science. 2001 Sep 6;294(5540):178–182. doi: 10.1126/science.1063093. [DOI] [PubMed] [Google Scholar]
  60. Hill A. F., Butterworth R. J., Joiner S., Jackson G., Rossor M. N., Thomas D. J., Frosh A., Tolley N., Bell J. E., Spencer M. Investigation of variant Creutzfeldt-Jakob disease and other human prion diseases with tonsil biopsy samples. Lancet. 1999 Jan 16;353(9148):183–189. doi: 10.1016/s0140-6736(98)12075-5. [DOI] [PubMed] [Google Scholar]
  61. Hill A. F., Butterworth R. J., Joiner S., Jackson G., Rossor M. N., Thomas D. J., Frosh A., Tolley N., Bell J. E., Spencer M. Investigation of variant Creutzfeldt-Jakob disease and other human prion diseases with tonsil biopsy samples. Lancet. 1999 Jan 16;353(9148):183–189. doi: 10.1016/s0140-6736(98)12075-5. [DOI] [PubMed] [Google Scholar]
  62. Hill A. F., Desbruslais M., Joiner S., Sidle K. C., Gowland I., Collinge J., Doey L. J., Lantos P. The same prion strain causes vCJD and BSE. Nature. 1997 Oct 2;389(6650):448-50, 526. doi: 10.1038/38925. [DOI] [PubMed] [Google Scholar]
  63. Hill A. F., Joiner S., Linehan J., Desbruslais M., Lantos P. L., Collinge J. Species-barrier-independent prion replication in apparently resistant species. Proc Natl Acad Sci U S A. 2000 Aug 29;97(18):10248–10253. doi: 10.1073/pnas.97.18.10248. [DOI] [PMC free article] [PubMed] [Google Scholar]
  64. Hill A. F., Sidle K. C., Joiner S., Keyes P., Martin T. C., Dawson M., Collinge J. Molecular screening of sheep for bovine spongiform encephalopathy. Neurosci Lett. 1998 Oct 23;255(3):159–162. doi: 10.1016/s0304-3940(98)00736-8. [DOI] [PubMed] [Google Scholar]
  65. Hill A. F., Zeidler M., Ironside J., Collinge J. Diagnosis of new variant Creutzfeldt-Jakob disease by tonsil biopsy. Lancet. 1997 Jan 11;349(9045):99–100. doi: 10.1016/S0140-6736(97)24002-X. [DOI] [PubMed] [Google Scholar]
  66. Hill Andrew F., Collinge John. Subclinical prion infection. Trends Microbiol. 2003 Dec;11(12):578–584. doi: 10.1016/j.tim.2003.10.007. [DOI] [PubMed] [Google Scholar]
  67. Hill Andrew F., Joiner Susan, Wadsworth Jonathan D. F., Sidle Katie C. L., Bell Jeanne E., Budka Herbert, Ironside James W., Collinge John. Molecular classification of sporadic Creutzfeldt-Jakob disease. Brain. 2003 Jun;126(Pt 6):1333–1346. doi: 10.1093/brain/awg125. [DOI] [PubMed] [Google Scholar]
  68. Hilton David A., Ghani Azra C., Conyers Lisa, Edwards Philip, McCardle Linda, Ritchie Diane, Penney Mark, Hegazy Doha, Ironside James W. Prevalence of lymphoreticular prion protein accumulation in UK tissue samples. J Pathol. 2004 Jul;203(3):733–739. doi: 10.1002/path.1580. [DOI] [PubMed] [Google Scholar]
  69. Holada Karel, Vostal Jaroslav G., Theisen Patrick W., MacAuley Claudia, Gregori Luisa, Rohwer Robert G. Scrapie infectivity in hamster blood is not associated with platelets. J Virol. 2002 May;76(9):4649–4650. doi: 10.1128/JVI.76.9.4649-4650.2002. [DOI] [PMC free article] [PubMed] [Google Scholar]
  70. Hope J., Wood S. C., Birkett C. R., Chong A., Bruce M. E., Cairns D., Goldmann W., Hunter N., Bostock C. J. Molecular analysis of ovine prion protein identifies similarities between BSE and an experimental isolate of natural scrapie, CH1641. J Gen Virol. 1999 Jan;80(Pt 1):1–4. doi: 10.1099/0022-1317-80-1-1. [DOI] [PubMed] [Google Scholar]
  71. Hosszu L. L., Baxter N. J., Jackson G. S., Power A., Clarke A. R., Waltho J. P., Craven C. J., Collinge J. Structural mobility of the human prion protein probed by backbone hydrogen exchange. Nat Struct Biol. 1999 Aug;6(8):740–743. doi: 10.1038/11507. [DOI] [PubMed] [Google Scholar]
  72. Hsiao K., Baker H. F., Crow T. J., Poulter M., Owen F., Terwilliger J. D., Westaway D., Ott J., Prusiner S. B. Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome. Nature. 1989 Mar 23;338(6213):342–345. doi: 10.1038/338342a0. [DOI] [PubMed] [Google Scholar]
  73. Huillard d'Aignaux J., Costagliola D., Maccario J., Billette de Villemeur T., Brandel J. P., Deslys J. P., Hauw J. J., Chaussain J. L., Agid Y., Dormont D. Incubation period of Creutzfeldt-Jakob disease in human growth hormone recipients in France. Neurology. 1999 Oct 12;53(6):1197–1201. doi: 10.1212/wnl.53.6.1197. [DOI] [PubMed] [Google Scholar]
  74. Hunter Nora, Foster James, Chong Angela, McCutcheon Sandra, Parnham David, Eaton Samantha, MacKenzie Calum, Houston Fiona. Transmission of prion diseases by blood transfusion. J Gen Virol. 2002 Nov;83(Pt 11):2897–2905. doi: 10.1099/0022-1317-83-11-2897. [DOI] [PubMed] [Google Scholar]
  75. Jackson G. S., Hosszu L. L., Power A., Hill A. F., Kenney J., Saibil H., Craven C. J., Waltho J. P., Clarke A. R., Collinge J. Reversible conversion of monomeric human prion protein between native and fibrilogenic conformations. Science. 1999 Mar 19;283(5409):1935–1937. doi: 10.1126/science.283.5409.1935. [DOI] [PubMed] [Google Scholar]
  76. Jackson G. S., Murray I., Hosszu L. L., Gibbs N., Waltho J. P., Clarke A. R., Collinge J. Location and properties of metal-binding sites on the human prion protein. Proc Natl Acad Sci U S A. 2001 Jul 3;98(15):8531–8535. doi: 10.1073/pnas.151038498. [DOI] [PMC free article] [PubMed] [Google Scholar]
  77. Joiner S., Linehan J., Brandner S., Wadsworth J. D. F., Collinge J. Irregular presence of abnormal prion protein in appendix in variant Creutzfeldt-Jakob disease. J Neurol Neurosurg Psychiatry. 2002 Nov;73(5):597–598. doi: 10.1136/jnnp.73.5.597. [DOI] [PMC free article] [PubMed] [Google Scholar]
  78. Kirkwood J. K., Wells G. A., Wilesmith J. W., Cunningham A. A., Jackson S. I. Spongiform encephalopathy in an arabian oryx (Oryx leucoryx) and a greater kudu (Tragelaphus strepsiceros) Vet Rec. 1990 Oct 27;127(17):418–420. [PubMed] [Google Scholar]
  79. Korth C., May B. C., Cohen F. E., Prusiner S. B. Acridine and phenothiazine derivatives as pharmacotherapeutics for prion disease. Proc Natl Acad Sci U S A. 2001 Aug 14;98(17):9836–9841. doi: 10.1073/pnas.161274798. [DOI] [PMC free article] [PubMed] [Google Scholar]
  80. Kuczius T., Haist I., Groschup M. H. Molecular analysis of bovine spongiform encephalopathy and scrapie strain variation. J Infect Dis. 1998 Sep;178(3):693–699. doi: 10.1086/515337. [DOI] [PubMed] [Google Scholar]
  81. Lasmézas C. I., Deslys J. P., Robain O., Jaegly A., Beringue V., Peyrin J. M., Fournier J. G., Hauw J. J., Rossier J., Dormont D. Transmission of the BSE agent to mice in the absence of detectable abnormal prion protein. Science. 1997 Jan 17;275(5298):402–405. doi: 10.1126/science.275.5298.402. [DOI] [PubMed] [Google Scholar]
  82. Laszlo L., Lowe J., Self T., Kenward N., Landon M., McBride T., Farquhar C., McConnell I., Brown J., Hope J. Lysosomes as key organelles in the pathogenesis of prion encephalopathies. J Pathol. 1992 Apr;166(4):333–341. doi: 10.1002/path.1711660404. [DOI] [PubMed] [Google Scholar]
  83. Llewelyn C. A., Hewitt P. E., Knight R. S. G., Amar K., Cousens S., Mackenzie J., Will R. G. Possible transmission of variant Creutzfeldt-Jakob disease by blood transfusion. Lancet. 2004 Feb 7;363(9407):417–421. doi: 10.1016/S0140-6736(04)15486-X. [DOI] [PubMed] [Google Scholar]
  84. Lloyd S. E., Onwuazor O. N., Beck J. A., Mallinson G., Farrall M., Targonski P., Collinge J., Fisher E. M. Identification of multiple quantitative trait loci linked to prion disease incubation period in mice. Proc Natl Acad Sci U S A. 2001 May 15;98(11):6279–6283. doi: 10.1073/pnas.101130398. [DOI] [PMC free article] [PubMed] [Google Scholar]
  85. Lloyd Sarah E., Linehan Jacqueline M., Desbruslais Melanie, Joiner Susan, Buckell Jennifer, Brandner Sebastian, Wadsworth Jonathan D. F., Collinge John. Characterization of two distinct prion strains derived from bovine spongiform encephalopathy transmissions to inbred mice. J Gen Virol. 2004 Aug;85(Pt 8):2471–2478. doi: 10.1099/vir.0.79889-0. [DOI] [PubMed] [Google Scholar]
  86. Lloyd Sarah E., Uphill James B., Targonski Paul V., Fisher Elizabeth M. C., Collinge John. Identification of genetic loci affecting mouse-adapted bovine spongiform encephalopathy incubation time in mice. Neurogenetics. 2002 Oct;4(2):77–81. doi: 10.1007/s10048-002-0133-9. [DOI] [PubMed] [Google Scholar]
  87. Mabbott N. A., Mackay F., Minns F., Bruce M. E. Temporary inactivation of follicular dendritic cells delays neuroinvasion of scrapie. Nat Med. 2000 Jul;6(7):719–720. doi: 10.1038/77401. [DOI] [PubMed] [Google Scholar]
  88. Mabbott Neil A., Young Janice, McConnell Irene, Bruce Moira E. Follicular dendritic cell dedifferentiation by treatment with an inhibitor of the lymphotoxin pathway dramatically reduces scrapie susceptibility. J Virol. 2003 Jun;77(12):6845–6854. doi: 10.1128/JVI.77.12.6845-6854.2003. [DOI] [PMC free article] [PubMed] [Google Scholar]
  89. Mallucci G. R., Ratté S., Asante E. A., Linehan J., Gowland I., Jefferys J. G. R., Collinge J. Post-natal knockout of prion protein alters hippocampal CA1 properties, but does not result in neurodegeneration. EMBO J. 2002 Feb 1;21(3):202–210. doi: 10.1093/emboj/21.3.202. [DOI] [PMC free article] [PubMed] [Google Scholar]
  90. Mallucci Giovanna, Collinge John. Rational targeting for prion therapeutics. Nat Rev Neurosci. 2005 Jan;6(1):23–34. doi: 10.1038/nrn1584. [DOI] [PubMed] [Google Scholar]
  91. Mallucci Giovanna, Collinge John. Update on Creutzfeldt-Jakob disease. Curr Opin Neurol. 2004 Dec;17(6):641–647. doi: 10.1097/00019052-200412000-00002. [DOI] [PubMed] [Google Scholar]
  92. Manson J. C., Clarke A. R., Hooper M. L., Aitchison L., McConnell I., Hope J. 129/Ola mice carrying a null mutation in PrP that abolishes mRNA production are developmentally normal. Mol Neurobiol. 1994 Apr-Jun;8(2-3):121–127. doi: 10.1007/BF02780662. [DOI] [PubMed] [Google Scholar]
  93. Manson J. C., Clarke A. R., McBride P. A., McConnell I., Hope J. PrP gene dosage determines the timing but not the final intensity or distribution of lesions in scrapie pathology. Neurodegeneration. 1994 Dec;3(4):331–340. [PubMed] [Google Scholar]
  94. Mattson Mark P., Chan Sic L. Good and bad amyloid antibodies. Science. 2003 Sep 26;301(5641):1847–1849. doi: 10.1126/science.301.5641.1847. [DOI] [PubMed] [Google Scholar]
  95. Mayer R. J., Landon M., Laszlo L., Lennox G., Lowe J. Protein processing in lysosomes: the new therapeutic target in neurodegenerative disease. Lancet. 1992 Jul 18;340(8812):156–159. doi: 10.1016/0140-6736(92)93224-b. [DOI] [PubMed] [Google Scholar]
  96. Mayer V., Rajcáni J., Mitrová E. Autoantibodies against neurofilaments in Creutzfeldt-Jakob disease: immunofluorescence in sections of human caudate nucleus. Acta Virol. 1981 Nov;25(6):390–394. [PubMed] [Google Scholar]
  97. Mead S., Mahal S. P., Beck J., Campbell T., Farrall M., Fisher E., Collinge J. Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1. Am J Hum Genet. 2001 Nov 5;69(6):1225–1235. doi: 10.1086/324710. [DOI] [PMC free article] [PubMed] [Google Scholar]
  98. Medori R., Tritschler H. J., LeBlanc A., Villare F., Manetto V., Chen H. Y., Xue R., Leal S., Montagna P., Cortelli P. Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. N Engl J Med. 1992 Feb 13;326(7):444–449. doi: 10.1056/NEJM199202133260704. [DOI] [PMC free article] [PubMed] [Google Scholar]
  99. Montrasio F., Frigg R., Glatzel M., Klein M. A., Mackay F., Aguzzi A., Weissmann C. Impaired prion replication in spleens of mice lacking functional follicular dendritic cells. Science. 2000 May 19;288(5469):1257–1259. doi: 10.1126/science.288.5469.1257. [DOI] [PubMed] [Google Scholar]
  100. Nicoll James A. R., Wilkinson David, Holmes Clive, Steart Phil, Markham Hannah, Weller Roy O. Neuropathology of human Alzheimer disease after immunization with amyloid-beta peptide: a case report. Nat Med. 2003 Mar 17;9(4):448–452. doi: 10.1038/nm840. [DOI] [PubMed] [Google Scholar]
  101. Oesch B., Westaway D., Wälchli M., McKinley M. P., Kent S. B., Aebersold R., Barry R. A., Tempst P., Teplow D. B., Hood L. E. A cellular gene encodes scrapie PrP 27-30 protein. Cell. 1985 Apr;40(4):735–746. doi: 10.1016/0092-8674(85)90333-2. [DOI] [PubMed] [Google Scholar]
  102. Oldstone Michael B. A., Race Richard, Thomas Diane, Lewicki Hanna, Homann Dirk, Smelt Sara, Holz Andreas, Koni Pandelakis, Lo David, Chesebro Bruce. Lymphotoxin-alpha- and lymphotoxin-beta-deficient mice differ in susceptibility to scrapie: evidence against dendritic cell involvement in neuroinvasion. J Virol. 2002 May;76(9):4357–4363. doi: 10.1128/JVI.76.9.4357-4363.2002. [DOI] [PMC free article] [PubMed] [Google Scholar]
  103. Otto M., Cepek L., Ratzka P., Doehlinger S., Boekhoff I., Wiltfang J., Irle E., Pergande G., Ellers-Lenz B., Windl O. Efficacy of flupirtine on cognitive function in patients with CJD: A double-blind study. Neurology. 2004 Mar 9;62(5):714–718. doi: 10.1212/01.wnl.0000113764.35026.ef. [DOI] [PubMed] [Google Scholar]
  104. Owen F., Poulter M., Lofthouse R., Collinge J., Crow T. J., Risby D., Baker H. F., Ridley R. M., Hsiao K., Prusiner S. B. Insertion in prion protein gene in familial Creutzfeldt-Jakob disease. Lancet. 1989 Jan 7;1(8628):51–52. doi: 10.1016/s0140-6736(89)91713-3. [DOI] [PubMed] [Google Scholar]
  105. Palmer M. S., Dryden A. J., Hughes J. T., Collinge J. Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature. 1991 Jul 25;352(6333):340–342. doi: 10.1038/352340a0. [DOI] [PubMed] [Google Scholar]
  106. Palmer M. S., Dryden A. J., Hughes J. T., Collinge J. Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature. 1991 Jul 25;352(6333):340–342. doi: 10.1038/352340a0. [DOI] [PubMed] [Google Scholar]
  107. Pan K. M., Baldwin M., Nguyen J., Gasset M., Serban A., Groth D., Mehlhorn I., Huang Z., Fletterick R. J., Cohen F. E. Conversion of alpha-helices into beta-sheets features in the formation of the scrapie prion proteins. Proc Natl Acad Sci U S A. 1993 Dec 1;90(23):10962–10966. doi: 10.1073/pnas.90.23.10962. [DOI] [PMC free article] [PubMed] [Google Scholar]
  108. Parchi P., Giese A., Capellari S., Brown P., Schulz-Schaeffer W., Windl O., Zerr I., Budka H., Kopp N., Piccardo P. Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol. 1999 Aug;46(2):224–233. [PubMed] [Google Scholar]
  109. Peden Alexander H., Head Mark W., Ritchie Diane L., Bell Jeanne E., Ironside James W. Preclinical vCJD after blood transfusion in a PRNP codon 129 heterozygous patient. Lancet. 2004 Aug 7;364(9433):527–529. doi: 10.1016/S0140-6736(04)16811-6. [DOI] [PubMed] [Google Scholar]
  110. Peretz D., Williamson R. A., Kaneko K., Vergara J., Leclerc E., Schmitt-Ulms G., Mehlhorn I. R., Legname G., Wormald M. R., Rudd P. M. Antibodies inhibit prion propagation and clear cell cultures of prion infectivity. Nature. 2001 Aug 16;412(6848):739–743. doi: 10.1038/35089090. [DOI] [PubMed] [Google Scholar]
  111. Poulter M., Baker H. F., Frith C. D., Leach M., Lofthouse R., Ridley R. M., Shah T., Owen F., Collinge J., Brown J. Inherited prion disease with 144 base pair gene insertion. 1. Genealogical and molecular studies. Brain. 1992 Jun;115(Pt 3):675–685. doi: 10.1093/brain/115.3.675. [DOI] [PubMed] [Google Scholar]
  112. Prinz Marco, Montrasio Fabio, Klein Michael A., Schwarz Petra, Priller Josef, Odermatt Bernhard, Pfeffer Klaus, Aguzzi Adriano. Lymph nodal prion replication and neuroinvasion in mice devoid of follicular dendritic cells. Proc Natl Acad Sci U S A. 2002 Jan 15;99(2):919–924. doi: 10.1073/pnas.022626399. [DOI] [PMC free article] [PubMed] [Google Scholar]
  113. Prusiner S. B. Molecular biology of prion diseases. Science. 1991 Jun 14;252(5012):1515–1522. doi: 10.1126/science.1675487. [DOI] [PubMed] [Google Scholar]
  114. Prusiner S. B. Novel proteinaceous infectious particles cause scrapie. Science. 1982 Apr 9;216(4542):136–144. doi: 10.1126/science.6801762. [DOI] [PubMed] [Google Scholar]
  115. Prusiner S. B., Scott M., Foster D., Pan K. M., Groth D., Mirenda C., Torchia M., Yang S. L., Serban D., Carlson G. A. Transgenetic studies implicate interactions between homologous PrP isoforms in scrapie prion replication. Cell. 1990 Nov 16;63(4):673–686. doi: 10.1016/0092-8674(90)90134-z. [DOI] [PubMed] [Google Scholar]
  116. Riek R., Hornemann S., Wider G., Billeter M., Glockshuber R., Wüthrich K. NMR structure of the mouse prion protein domain PrP(121-231). Nature. 1996 Jul 11;382(6587):180–182. doi: 10.1038/382180a0. [DOI] [PubMed] [Google Scholar]
  117. Schwarz Anja, Krätke Oliver, Burwinkel Michael, Riemer Constanze, Schultz Julia, Henklein Peter, Bamme Theresa, Baier Michael. Immunisation with a synthetic prion protein-derived peptide prolongs survival times of mice orally exposed to the scrapie agent. Neurosci Lett. 2003 Oct 30;350(3):187–189. doi: 10.1016/s0304-3940(03)00907-8. [DOI] [PubMed] [Google Scholar]
  118. Shaked G. M., Fridlander G., Meiner Z., Taraboulos A., Gabizon R. Protease-resistant and detergent-insoluble prion protein is not necessarily associated with prion infectivity. J Biol Chem. 1999 Jun 18;274(25):17981–17986. doi: 10.1074/jbc.274.25.17981. [DOI] [PubMed] [Google Scholar]
  119. Sigurdsson Einar M., Brown David R., Daniels Maki, Kascsak Richard J., Kascsak Regina, Carp Richard, Meeker Harry C., Frangione Blas, Wisniewski Thomas. Immunization delays the onset of prion disease in mice. Am J Pathol. 2002 Jul;161(1):13–17. doi: 10.1016/S0002-9440(10)64151-X. [DOI] [PMC free article] [PubMed] [Google Scholar]
  120. Solforosi Laura, Criado Jose R., McGavern Dorian B., Wirz Sebastian, Sánchez-Alavez Manuel, Sugama Shuei, DeGiorgio Lorraine A., Volpe Bruce T., Wiseman Erika, Abalos Gil. Cross-linking cellular prion protein triggers neuronal apoptosis in vivo. Science. 2004 Jan 29;303(5663):1514–1516. doi: 10.1126/science.1094273. [DOI] [PubMed] [Google Scholar]
  121. Taraboulos A., Raeber A. J., Borchelt D. R., Serban D., Prusiner S. B. Synthesis and trafficking of prion proteins in cultured cells. Mol Biol Cell. 1992 Aug;3(8):851–863. doi: 10.1091/mbc.3.8.851. [DOI] [PMC free article] [PubMed] [Google Scholar]
  122. Telling G. C., Parchi P., DeArmond S. J., Cortelli P., Montagna P., Gabizon R., Mastrianni J., Lugaresi E., Gambetti P., Prusiner S. B. Evidence for the conformation of the pathologic isoform of the prion protein enciphering and propagating prion diversity. Science. 1996 Dec 20;274(5295):2079–2082. doi: 10.1126/science.274.5295.2079. [DOI] [PubMed] [Google Scholar]
  123. Wadsworth J. D., Hill A. F., Joiner S., Jackson G. S., Clarke A. R., Collinge J. Strain-specific prion-protein conformation determined by metal ions. Nat Cell Biol. 1999 May;1(1):55–59. doi: 10.1038/9030. [DOI] [PubMed] [Google Scholar]
  124. Wadsworth J. D., Joiner S., Hill A. F., Campbell T. A., Desbruslais M., Luthert P. J., Collinge J. Tissue distribution of protease resistant prion protein in variant Creutzfeldt-Jakob disease using a highly sensitive immunoblotting assay. Lancet. 2001 Jul 21;358(9277):171–180. doi: 10.1016/s0140-6736(01)05403-4. [DOI] [PubMed] [Google Scholar]
  125. Wadsworth Jonathan D. F., Asante Emmanuel A., Desbruslais Melanie, Linehan Jacqueline M., Joiner Susan, Gowland Ian, Welch Julie, Stone Lisa, Lloyd Sarah E., Hill Andrew F. Human prion protein with valine 129 prevents expression of variant CJD phenotype. Science. 2004 Nov 11;306(5702):1793–1796. doi: 10.1126/science.1103932. [DOI] [PubMed] [Google Scholar]
  126. White Anthony R., Enever Perry, Tayebi Mourad, Mushens Rosey, Linehan Jackie, Brandner Sebastian, Anstee David, Collinge John, Hawke Simon. Monoclonal antibodies inhibit prion replication and delay the development of prion disease. Nature. 2003 Mar 6;422(6927):80–83. doi: 10.1038/nature01457. [DOI] [PubMed] [Google Scholar]
  127. Wickner R. B. A new prion controls fungal cell fusion incompatibility. Proc Natl Acad Sci U S A. 1997 Sep 16;94(19):10012–10014. doi: 10.1073/pnas.94.19.10012. [DOI] [PMC free article] [PubMed] [Google Scholar]
  128. Wickner R. B., Masison D. C. Evidence for two prions in yeast: [URE3] and [PSI]. Curr Top Microbiol Immunol. 1996;207:147–160. doi: 10.1007/978-3-642-60983-1_10. [DOI] [PubMed] [Google Scholar]
  129. Will R. G., Ironside J. W., Zeidler M., Cousens S. N., Estibeiro K., Alperovitch A., Poser S., Pocchiari M., Hofman A., Smith P. G. A new variant of Creutzfeldt-Jakob disease in the UK. Lancet. 1996 Apr 6;347(9006):921–925. doi: 10.1016/s0140-6736(96)91412-9. [DOI] [PubMed] [Google Scholar]
  130. Wille H., Zhang G. F., Baldwin M. A., Cohen F. E., Prusiner S. B. Separation of scrapie prion infectivity from PrP amyloid polymers. J Mol Biol. 1996 Jun 21;259(4):608–621. doi: 10.1006/jmbi.1996.0343. [DOI] [PubMed] [Google Scholar]
  131. Windl O., Dempster M., Estibeiro J. P., Lathe R., de Silva R., Esmonde T., Will R., Springbett A., Campbell T. A., Sidle K. C. Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: a systematic analysis of predisposing mutations and allelic variation in the PRNP gene. Hum Genet. 1996 Sep;98(3):259–264. doi: 10.1007/s004390050204. [DOI] [PubMed] [Google Scholar]
  132. Zeidler M., Stewart G. E., Barraclough C. R., Bateman D. E., Bates D., Burn D. J., Colchester A. C., Durward W., Fletcher N. A., Hawkins S. A. New variant Creutzfeldt-Jakob disease: neurological features and diagnostic tests. Lancet. 1997 Sep 27;350(9082):903–907. doi: 10.1016/s0140-6736(97)07472-2. [DOI] [PubMed] [Google Scholar]
  133. d'Aignaux J. N., Cousens S. N., Smith P. G. Predictability of the UK variant Creutzfeldt-Jakob disease epidemic. Science. 2001 Oct 25;294(5547):1729–1731. doi: 10.1126/science.1064748. [DOI] [PubMed] [Google Scholar]

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