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New Trends in the Diagnosis and Therapy of Non-Alzheimer’s Dementia pp 231–246Cite as

Human prion diseases

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Part of the book series: Journal of Neural Transmission Supplement ((NEURAL SUPPL,volume 47))

Summary

The classical prion diseases in man comprise Creutzfeldt-Jakob disease (CJD), Kuru and Gerstmann-Sträussler-Scheinker syndrome (GSS). Recent advances in the biochemistry and the molecular biology of the transmissible agents responsible for these human spongiform encephalopathies have prompted renewed interest in their clinical and pathological features. A broadening spectrum of human prion diseases has now been identified including novel entities such as Fatal Familial Insomnia and variants of CJD and GSS characterised by specific abnormalities in the human prion protein (PrP) gene on chromosome 20. Accumulation of PrP in the central nervous system is a characteristic feature of all these disorders, although the relationship between PrP localisation, classical neuropathology, clinical features and genotype still requires clarification. A national surveillance project for CJD was established in 1990 in the United Kingdom in order to assess the possible implications of bovine spongiform encephalopathy for human health. The identification of an apparently new variant of CJD in young patients in UK raises the possibility of such a link; further studies are required to assess the significance of this observation.

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References

  • Advisory Committee on Dangerous Pathogens (1994) Precautions for work with human and animal tranmissible spongiform encephalopathies, 1st edn. HMSO, London

    Google Scholar 

  • Amouyel P, Vidal O, Launay JM, Laplanche JL (1994) The apolipoprotein E alleles as major susceptibility factors for Creutzfeldt-Jakob disease. Lancet 344: 1315–1318

    CAS  Google Scholar 

  • Anonymous (1990) Prion disease - spongiform encephalopathies unveiled. Lancet 336: 21–22

    Article  Google Scholar 

  • Askanas V, King EW, Alverez RB (1992) Light and electron microscopic localisation of (3-amyloid protein in muscle biopsies of patients with inclusion-body myositis. Am J Pathol 141: 31–36

    PubMed  CAS  Google Scholar 

  • Askanas V, Bilak M, Engel WK, Alvarez RB, Tome F, Leclerc A (1993) Prion protein is abnormally accumulated in inclusion-body myositis. Neuro Report 5: 25–28

    CAS  Google Scholar 

  • Baker HF, Ridley RM (1992) The genetics and transmissibility of human spongiform encephalopathy. Neurodegen 1: 3–16

    Google Scholar 

  • Bastian FO (ed) (1991) Creutzfeldt-Jakob disease and other transmissible human spongiform encephalopathies. Mosby Year Book, St Louis

    Google Scholar 

  • Bell JE, Ironside JW (1993a) Neuropathology of spongiform encephalopathies in humans. Br Med Bull 49: 738–777

    CAS  Google Scholar 

  • Bell JE, Ironside JW (1993b) How to tackle a possible Creutzfeldt-Jakob disease necropsy. J Clin Pathol 46: 193–197

    Article  CAS  Google Scholar 

  • Bradley R, Wilesmith JW (1993) Epidemiology and control of bovine spongiform encephalopathy (BSE). Br Med Bull 49: 932–959

    PubMed  CAS  Google Scholar 

  • Brown P, Wolff A, Gajdusek DC (1990) A simple and effective method for inactivating virus infectivity in formalin-fixed tissue samples from patients with Creutzfeldt-Jakob disease. Neurology 40: 887–90

    PubMed  CAS  Google Scholar 

  • Brown P, Preece MA, Will RG (1992) “Friendly fire” in medicine: hormones homografts and Creutzfeldt-Jakob disease. Lancet 340: 24–27

    Article  PubMed  CAS  Google Scholar 

  • Brown P, Crevenakova L, Boellaard JW, Stavrou D, Goldfarb LG, Gajdusek DC (1994) Identification of a PRNP gene mutation in Jakob’s original Creutzfeldt-Jakob disease family. Lancet 344: 130–131

    Article  PubMed  CAS  Google Scholar 

  • Budka H, Aguzzi A, Brown P, Brucher J-M, Bugiani O, Gullotta F, Haltia M, Hauw J-J, Ironside JW, Jellinger K, Kretzschmar HA, Lantos PL, Masullo C, Scholte W, Tateishi J, Weller RO (1995) Neuropathological diagnostic criteria for CreutzfeldtJakob disease (CJD) and other human spongiform encephalopathies (prion diseases). Brain Pathol 5: 459–465

    Article  PubMed  CAS  Google Scholar 

  • Bugiani O, Giaccone G, Verga L, Pollo B, Frangione B, Farlow MR, Tagliavini F, Ghetti B (1993) (3PP participates in PrP-amyloid plaques of Gerstmann-Sträussler-Scheinker disease, Indiana kindred. J Neuropathol Exp Neurol 52: 66–70

    Article  Google Scholar 

  • Collinge J, Owen F, Poulter M, Leach M, Crow TJ, Rossor MN, Mullan MJ, Janota I, Lantos PL (1990) Prion dementia without characteristic pathology. Lancet 336: 7–9

    Article  PubMed  CAS  Google Scholar 

  • Collinge J, Palmer MS, Dryden AJ (1991) Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease. Lancet 337: 1441–42

    Article  PubMed  CAS  Google Scholar 

  • Collinge J, Palmer MS, Sidle KCL, Gowland I, Medori R, Ironside JW, Lantos P (1995) Tranmission of fatal familial insomnia to laboratory animals. Lancet 346: 569–570

    Article  PubMed  CAS  Google Scholar 

  • Creutzfeldt HG (1920) Über eine eigenartige herdförmige Erkrankung des Zentralnervensystems. Z Ges Neurol Psychiat 57: 1–18

    Article  Google Scholar 

  • De Silva R, Ironside JW, McCardle L, Esmonde T, Bell JE, Will RG, Windle O, Dempster M, Estibeiro P, Lathe R (1994) Neuropathological phenotype and “prion protein” genotype correlation in sporadic Creutzfeldt-Jakob disease. Neurosci Lett 179: 50–52

    Article  PubMed  Google Scholar 

  • DeArmond SJ (1993) Alzheimer’s disease and Creutzfeldt-Jakob disease: overlap of pathogenic mechanisms. Curr Opin Neurol 6: 872–881

    Article  PubMed  CAS  Google Scholar 

  • Delasnerie-Laupretre N, Poser S, Pocchiari M, Wientjens DPW, Will R (1995) Creutzfeldt-Jakob disease in Europe. Lancet 346: 898

    Article  PubMed  CAS  Google Scholar 

  • Frasier SD, Foley Jr TP (1994) Creutzfeldt-Jakob disease in recipients of pituitary hormones. J Clin Endocrinol Metabol 78: 1277–1279

    Article  CAS  Google Scholar 

  • Gajdusek DC, Zigas V (1957) Degenerative disease of the central nervous system in New Guinea. The endemic occurrence of “kuru” in the native population. N Engl J Med 257: 974–978

    Article  PubMed  CAS  Google Scholar 

  • Gajdusek DC, Gibbs CJ, Alpers MP (1966) Experimental transmission of a kuru-like syndrome in chimpanzees. Nature 209: 794–796

    Article  PubMed  CAS  Google Scholar 

  • Gambetti P, Peterson R, Monari L, Tabaton M, Autillo-Gambetti L, Cortelli P, Montagna P, Lugaresi E (1993) Fatal familial insomnia and the widening spectrum of prion diseases. Br Med Bull 49: 980–994

    PubMed  CAS  Google Scholar 

  • Gerstmann J, Sträussler E, Scheinker I (1936) Über eine eigenartige hereditär-familiäre Erkrankung des Zentralnervensystems, zugleich ein Beitrag zur Frage des vorzeitigen lokalen Alterns. Z Neurol Psych 154: 736–762

    Article  Google Scholar 

  • Gibbs CJ, Gajdusek DC, Asher DM, Alpers MP, Beck E, Daniel PM, Matthews WB (1968) Creutzfeldt-Jakob disease (subacute spongiform encephalopathy): transmission to the chimpanzee. Science 161: 388–389

    Article  PubMed  Google Scholar 

  • Goldfarb LG, Brown P, Cervenakova L, Gajdusek CJ (1994) Molecular genetic studies of Creutzfeldt-Jakob disease. Mol Neurobiol 8: 89–97

    Article  PubMed  CAS  Google Scholar 

  • Goodbrand IA, Ironside JW, Nicolson D, Bell JE (1995) Prion protein accumulation in the spinal cords of patients with sporadic and growth hormone associated Cruetzfeldt-Jakob disease. Neurosci Lett 183: 127–130

    Article  PubMed  CAS  Google Scholar 

  • Hainfellner JA, Brantner-Inthaler S, Cercenakova L, Brown P, Kitamoto T, Tateishi J, Diringer H, Liberski PP, Regele H, Feucht M, Mayr N, Wessely P, Summer K, Seitelberger F, Budka H (1995) The original Gerstmann-Sträussler-Scheinker family of Austria: divergent clinicopathological phenotypes but constant PrP genotype. Brain Pathol 5: 201–213

    Article  PubMed  CAS  Google Scholar 

  • Hansen LA, Masliah E, Terry RD, Mirra SS (1989) A neuropathological subset of Alzheimer’s disease with concomitant Lewy body disease and spongiform change. Acta Neuropathol 78: 194–201

    Article  PubMed  CAS  Google Scholar 

  • Hayward PAR, Bell JE, Ironside JW (1994) Prion protein immunocytochemistry: the development of reliable protocols for the investigation of Creutzfeldt-Jakob disease. Neuropathol Appl Neurobiol 20: 375–383

    Article  PubMed  CAS  Google Scholar 

  • Hsiao KK, Doh-ura K, Kitamoto T, Tateishi J, Prusiner SB (1989) A prion protein amino acid substitution in ataxic Gerstmann-Sträussler syndrome. Ann Neurol 26: 137

    Google Scholar 

  • Jakob A (1921) Über eigenartige Erkrankungen des Zentralnervensystems mit bemerkenswertem anatomischen Befunden (Spastische PseudoskleroseEncephalomyelopathie mit disseminierten Degenerationsherden). Z Ges Neurol Psychiat 64: 147–228

    Article  Google Scholar 

  • Jendroska K, Hoffmann O, Schelosky L, Lees AJ, Poewe W, Daniel SE (1994) Absence of disease related prion protein in neurodegenerative disorders presenting with Parkinson’s syndrome. J Neurol Neurosurg Psychiatry 57: 1249–1251

    Article  PubMed  CAS  Google Scholar 

  • Kitamoto T, Shin RW, Doh-ura K, Tomokane N, Miyazono M, Muramoto T, Tateishi J (1992) Abnormal isoform of prion protein accumulates in the synaptic structures of the central nervous system in patients with Creutzfeldt-Jakob Disease. Am J Pathol 140: 1285–129

    PubMed  CAS  Google Scholar 

  • Klatzo I, Gajdusek DC, Vigas V (1959) Pathology of kuru. Lab Invest 8: 799–847 Lugaresi E, Medori R, Montagna P, Baruzzi A, Cortelli P, Lugaresi A, Tinuper P, Zucconi M, Gambett P (1986) Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei. N Engl J Med 315: 997–1003

    Google Scholar 

  • Martinez-Lage JF, Poza M, Sola J, Tortosa JG, Brown P, Crevenakova L, Esteban JA, Mendoza A (1994) Accidental transmission of Creutzfeldt-Jakob disease by dural cadaveric grafts. J Neurol Neurosurg Psychiatry 57: 1091–1904

    Article  PubMed  CAS  Google Scholar 

  • Masters CL, Richardson EP (1978) Subacute spongiform encephalopathy (CreutzfeldtJakob disease). The nature and progression of spongiform change. Brain 101: 333–334

    Article  PubMed  CAS  Google Scholar 

  • Masters CL, Gajdusek DC, Gibbs CJ (1981) Creutzfeldt-Jakob disease: virus isolates from the Gerstmann-Sträussler syndrome. Brain 104: 559–588

    Article  PubMed  CAS  Google Scholar 

  • Medori R, Tritschler JH, LeBlanc A, Villare F, Manetto V, Ghen HY, Xuf R, Leal S, Montagna P, Cortelli P, Tinuper P, Avoni P, Mochi M, Baruzzi A, Hauw JJ, Ott J, Lugarest E, Autilio-Gambettia L, Gambetti P (1992) Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. N Engl J Med 7: 444–449

    Article  Google Scholar 

  • Metters JS (1990) Neuro and ophthalmic surgery procedures in patients with or suspected to have or at risk of developing CJD or GSS. Letter PL(92)CO/4 to Consultants and Health Managers, Department of Health, London

    Google Scholar 

  • Neumann MA, Gajdusek DC, Vigas V (1965) Neuropathologie findings in exotic neurologic disorders among natives of the highlands of New Guinea. J Neuropathol Exp Neurol 18: 486–507

    Google Scholar 

  • Nieto A, Goldfarb LG, Brown P, McCombie WR, Trapp S, Asher DM, Gajdusek DC (1991) Codon 178 mutation in ethnically diverse Creutzfeldt-Jakob disease families. Lancet 337: 622–623

    Article  PubMed  CAS  Google Scholar 

  • Petersen RB, Tabaton M, Chen SG, Monari L, Richardson SL, Lynches T, Manetto V, Lanska DJ, Markesbery WR, Currier RD, Autilio-Gambetti L, Wilhelmsen KC, Gambetti P (1995) Familial progessive subcortical gliosis: presence of prions and linkage to chromosome 17. Neurology 45: 1062–1067

    PubMed  CAS  Google Scholar 

  • Pickering-Brown SM, Mann DMA, Owen F, Ironside JW, de Silva R, Roberts DA, Balderson DJ, Cooper PN (1995) Allelic variations in apolipoprotein E and prion protein genotype related to plaque formation and age of onset in sporadic Creutzfeldt-Jakob disease. Neurosci Lett 187: 127–129

    CAS  Google Scholar 

  • Prusiner S B (1994) Biology and genetics of prion disease. Ann Rev Microbiol 48: 655–686

    Article  CAS  Google Scholar 

  • Richardson EP Jn, Masters CL (1995) The nosology of Creutzfeldt-Jakob disease and conditions related to the accumulation of PrPcm in the nervous system. Brain Pathol 5: 33–41

    Article  PubMed  Google Scholar 

  • Smith PEM, Zeidler M, Ironside JW, Estibeiro P, Moss TH (1995) Creutzfeldt-Jakob disease in a dairy farmer. Lancet 346: 898

    Article  PubMed  CAS  Google Scholar 

  • Wells GAH, Scott AC, Johnson CT, Gunning RF, Hancock RD, Jeffrey M, Dawson M, Bradley R (1987) A novel progressive spongiform encephalopathy in cattle. Vet Rec 121: 419–420

    Article  PubMed  CAS  Google Scholar 

  • Westaway D, DeArmond SJ, Cayetano-Canlas J, Groth D, Foster D, Yang S, Torchia M, Carlson GA, Prusiner SB (1994) Degeneration of skeletal muscle, peripheral nerves and the central nervous system in transgenic mice overexpressing wild-type prion proteins. Cell 76: 117–129

    Article  PubMed  CAS  Google Scholar 

  • Will RG (1991) The spongiform encephalopathies. J Neurol Neurosurg Psychiatry 54: 761–763

    Article  PubMed  CAS  Google Scholar 

  • Will RG (1993) Epidemiology of Creutzfeldt-Jakob disease. Br Med Bull 49: 960–970

    PubMed  CAS  Google Scholar 

  • Will RG, Ironside JW, Zeidler M, Estibeiro K, Alperovitch A, Poser S, Pocchiari M, Hofman A, Smith PG (1996) A new variant of Creutzfeldt-Jakob disease in the UK. Lancet 347: 921–925

    Article  PubMed  CAS  Google Scholar 

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Author information

Authors and Affiliations

  1. Neuropathology Laboratory, Department of Pathology, The University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK

    Dr. J. W. Ironside

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  1. Dr. J. W. Ironside
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Editors and Affiliations

  1. L. Boltzmann Institute of Clinical Neurobiology, Lainz-Hospital, Vienna, Austria

    Kurt A. Jellinger

  2. EBEWE-Research Initiative, Graz, Austria

    Manfred Windisch

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© 1996 Springer-Verlag

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Ironside, J.W. (1996). Human prion diseases. In: Jellinger, K.A., Windisch, M. (eds) New Trends in the Diagnosis and Therapy of Non-Alzheimer’s Dementia. Journal of Neural Transmission Supplement, vol 47. Springer, Vienna. https://doi.org/10.1007/978-3-7091-6892-9_16

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  • DOI: https://doi.org/10.1007/978-3-7091-6892-9_16

  • Publisher Name: Springer, Vienna

  • Print ISBN: 978-3-211-82823-6

  • Online ISBN: 978-3-7091-6892-9

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