FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Previous Volume 340:1630-1638 May 27, 1999 Number 21 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

	Full Text PDF Editorial by Gambetti, P. Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

The human prion diseases include Creutzfeldt–Jakob disease, Gerstmann–Sträussler–Scheinker disease, fatal familial insomnia, and the recently described new variant of Creutzfeldt–Jakob disease. Much evidence argues that a post-translational, noncovalent modification of prion protein is the fundamental event in the mechanism underlying these diseases.¹ The normal cellular isoform of the prion protein (PrP^C) is predominantly -helical, is detergent soluble, and is readily digested by proteases. In contrast, the pathogenic isoform (PrP^Sc) has a substantially ß-sheet structure, is insoluble in nondenaturing detergents, and shows relative resistance to proteolytic digestion.^2,3,4 The protease-resistant core of PrP^Sc, designated PrP27–30, is usually detectable in . . . [Full Text of this Article]

Case Report

Methods

Genetic Analysis

Neuropathological Analysis

Protein Analysis

Immunoblotting and Histologic Examination of Transgenic Animals

Results

Neuropathological Findings

Genotyping

PrP^Sc Distribution and Conformation

Transmission Studies

Discussion

Source Information

From the Institute for Neurodegenerative Diseases, Department of Neurology (J.A.M., R.N., R.L., G.C.T., D.H., S.J.D., S.B.P.), and the Departments of Pathology (S.J.D.) and Biochemistry and Biophysics (S.B.P.), University of California, San Francisco; and the Department of Neurology, University of Chicago, Chicago (J.A.M.).

Address reprint requests to Dr. Prusiner at the Department of Neurology, Box 0518, University of California, San Francisco, CA 94143-0518.

References

This article has been cited by other articles:

• Mehta, L. R., Huddleston, B. J., Skalabrin, E. J., Burns, J. B., Zou, W.-Q., Gambetti, P., Chin, S. S. (2008). Sporadic Fatal Insomnia Masquerading as a Paraneoplastic Cerebellar Syndrome. Arch Neurol 65: 971-973 [Abstract] [Full Text]  
• Green, K. M., Browning, S. R., Seward, T. S., Jewell, J. E., Ross, D. L., Green, M. A., Williams, E. S., Hoover, E. A., Telling, G. C. (2008). The elk PRNP codon 132 polymorphism controls cervid and scrapie prion propagation. J. Gen. Virol. 89: 598-608 [Abstract] [Full Text]  
• Cortelli, P., Perani, D., Montagna, P., Gallassi, R., Tinuper, P., Federica, P., Avoni, P., Ferrillo, F., Anchisi, D., Moresco, R. M., Fazio, F., Parchi, P., Baruzzi, A., Lugaresi, E., Gambetti, P. (2006). Pre-symptomatic diagnosis in fatal familial insomnia: serial neurophysiological and 18FDG-PET studies. Brain 129: 668-675 [Abstract] [Full Text]  
• Johnson, R. T., Gonzalez, R. G., Frosch, M. P. (2005). Case 27-2005 - An 80-Year-Old Man with Fatigue, Unsteady Gait, and Confusion. NEJM 353: 1042-1050 [Full Text]  
• Safar, J. G., Kellings, K., Serban, A., Groth, D., Cleaver, J. E., Prusiner, S. B., Riesner, D. (2005). Search for a Prion-Specific Nucleic Acid. J. Virol. 79: 10796-10806 [Abstract] [Full Text]  
• Hamaguchi, T., Kitamoto, T., Sato, T., Mizusawa, H., Nakamura, Y., Noguchi, M., Furukawa, Y., Ishida, C., Kuji, I., Mitani, K., Murayama, S., Kohriyama, T., Katayama, S., Yamashita, M., Yamamoto, T., Udaka, F., Kawakami, A., Ihara, Y., Nishinaka, T., Kuroda, S., Suzuki, N., Shiga, Y., Arai, H., Maruyama, M., Yamada, M. (2005). Clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease. Neurology 64: 643-648 [Abstract] [Full Text]  
• Browning, S. R., Mason, G. L., Seward, T., Green, M., Eliason, G. A. J., Mathiason, C., Miller, M. W., Williams, E. S., Hoover, E., Telling, G. C. (2004). Transmission of Prions from Mule Deer and Elk with Chronic Wasting Disease to Transgenic Mice Expressing Cervid PrP. J. Virol. 78: 13345-13350 [Abstract] [Full Text]  
• Kikuchi, Y., Kakeya, T., Sakai, A., Takatori, K., Nakamura, N., Matsuda, H., Yamazaki, T., Tanamoto, K.-i., Sawada, J.-i. (2004). Propagation of a protease-resistant form of prion protein in long-term cultured human glioblastoma cell line T98G. J. Gen. Virol. 85: 3449-3457 [Abstract] [Full Text]  
• Legname, G., Baskakov, I. V., Nguyen, H.-O. B., Riesner, D., Cohen, F. E., DeArmond, S. J., Prusiner, S. B. (2004). Synthetic Mammalian Prions. Science 305: 673-676 [Abstract] [Full Text]  
• Taguchi, Y., Mohri, S., Ironside, J. W., Muramoto, T., Kitamoto, T. (2003). Humanized Knock-In Mice Expressing Chimeric Prion Protein Showed Varied Susceptibility to Different Human Prions. Am. J. Pathol. 163: 2585-2593 [Abstract] [Full Text]  
• Gambetti, P., Kong, Q., Zou, W., Parchi, P., Chen, S. G (2003). Sporadic and familial CJD: classification and characterisation. Br Med Bull 66: 213-239 [Abstract] [Full Text]  
• Korth, C., Kaneko, K., Groth, D., Heye, N., Telling, G., Mastrianni, J., Parchi, P., Gambetti, P., Will, R., Ironside, J., Heinrich, C., Tremblay, P., DeArmond, S. J., Prusiner, S. B. (2003). Abbreviated incubation times for human prions in mice expressing a chimeric mouse-human prion protein transgene. Proc. Natl. Acad. Sci. USA 100: 4784-4789 [Abstract] [Full Text]  
• Taratuto, A. L., Piccardo, P., Reich, E. G., Chen, S. G., Sevlever, G., Schultz, M., Luzzi, A. A., Rugiero, M., Abecasis, G., Endelman, M., Garcia, A. M., Capellari, S., Xie, Z., Lugaresi, E., Gambetti, P., Dlouhy, S. R., Ghetti, B. (2002). Insomnia associated with thalamic involvement in E200K Creutzfeldt-Jakob disease. Neurology 58: 362-367 [Abstract] [Full Text]  
• Mastrianni, J. A., Capellari, S., Telling, G. C., Han, D., Bosque, P., Prusiner, S. B., DeArmond, S. J. (2001). Inherited prion disease caused by the V210I mutation: Transmission to transgenic mice. Neurology 57: 2198-2205 [Abstract] [Full Text]  
• Prusiner, S. B. (2001). Neurodegenerative Diseases and Prions. NEJM 344: 1516-1526 [Full Text]  
• Peretz, D., Scott, M. R., Groth, D., Williamson, R. A., Burton, D. R., Cohen, F. E., Prusiner, S. B. (2001). Strain-specified relative conformational stability of the scrapie prion protein. Protein Sci. 10: 854-863 [Abstract] [Full Text]  
• Dell, A., Morris, H. R. (2001). Glycoprotein Structure Determination by Mass Spectrometry. Science 291: 2351-2356 [Abstract] [Full Text]  
• Korth, C., Kaneko, K., Prusiner, S. B. (2000). Expression of unglycosylated mutated prion protein facilitates PrPSc formation in neuroblastoma cells infected with different prion strains. J. Gen. Virol. 81: 2555-2563 [Abstract] [Full Text]  
• Zuegg, J., Gready, J. E. (2000). Molecular dynamics simulation of human prion protein including both N-linked oligosaccharides and the GPI anchor. Glycobiology 10: 959-974 [Abstract] [Full Text]  
• Tabernero, C, Polo, J M, Sevillano, M D, Munoz, R, Berciano, J, Cabello, A, Baez, B, Ricoy, J R, Carpizo, R, Figols, J, Cuadrado, N, Claveria, L E (2000). Fatal familial insomnia: clinical, neuropathological, and genetic description of a Spanish family. J. Neurol. Neurosurg. Psychiatry 68: 774-777 [Abstract] [Full Text]  
• Tallóczy, Z., Mazar, R., Georgopoulos, D. E., Ramos, F., Leibowitz, M. J. (2000). The [KIL-d] Element Specifically Regulates Viral Gene Expression in Yeast. Genetics 155: 601-609 [Abstract] [Full Text]  
• Scott, M. R., Will, R., Ironside, J., Nguyen, H.-O. B., Tremblay, P., DeArmond, S. J., Prusiner, S. B. (1999). From the Cover: Compelling transgenetic evidence for transmission of bovine spongiform encephalopathy prions to humans. Proc. Natl. Acad. Sci. USA 96: 15137-15142 [Abstract] [Full Text]  
• Rudd, P. M., Endo, T., Colominas, C., Groth, D., Wheeler, S. F., Harvey, D. J., Wormald, M. R., Serban, H., Prusiner, S. B., Kobata, A., Dwek, R. A. (1999). Glycosylation differences between the normal and pathogenic prion protein isoforms. Proc. Natl. Acad. Sci. USA 96: 13044-13049 [Abstract] [Full Text]  
• (1999). Prion Properties in Sporadic Fatal Insomnia. JWatch Neurology 1999: 5-5 [Full Text]  
• Gambetti, P., Parchi, P. (1999). Insomnia in Prion Diseases: Sporadic and Familial. NEJM 340: 1675-1677 [Full Text]  
• Pan, T., Colucci, M., Wong, B.-S., Li, R., Liu, T., Petersen, R. B., Chen, S., Gambetti, P., Sy, M.-S. (2001). Novel Differences between Two Human Prion Strains Revealed by Two-dimensional Gel Electrophoresis. J. Biol. Chem. 276: 37284-37288 [Abstract] [Full Text]