PL EN


Preferences help
enabled [disable] Abstract
Number of results
2007 | 7 | 3 | 158-187
Article title

Pasażowalne encefalopatie gąbczaste albo choroby wywołane przez priony – podsumowanie 2007

Content
Title variants
EN
Transmissible spongiform encephalopathies or prion diseases – update 2007
Languages of publication
EN PL
Abstracts
EN
Prion diseases or transmissible spongiform encephalopathies are a group of neurodegenerative disorders characterized by a widespread deposition in the central nervous system, and some other tissues, of the pathological isoform of the prion protein (PrPd; “d” from disease). TSEs include: 1) kuru; 2) Creutzfeldt-Jakob disease (CJD), the disease that occurs in four etiologically forms: • sporadic CJD (sCJD), • familial CJD (fCJD), • iatrogenic CJD (iCJD), • variant CJD (vCJD); 3) Gerstmann-Sträussler-Scheinker disease (GSS); 4) fatal familial insomnia (FFI). There are also several TSEs in animals: – scrapie – in sheep, goats and moufflons; – bovine spongiform encephalopathy (BSE) and bovine atypical spongiform encephalopathy (BASE) or mad cow disease; – BSE passaged to: • domestic cats (feline spongiform encephalopathy, FSE) and large cats (lion, tiger, cheetah, ocelot and puma) • antelopes (kudu, nyala, oryx), bison; – chronic wasting disease in mule deer and elk; – transmissible mink encephalopathy in ranch-reared mink. Historically, the eponimic names are also included: atactic type of CJD or Betty Brownell syndrome, CJD with a cortical blindness (Heidenhain type) and the panencephalopathic type (Tateishi). The amyotrophic type is not TSE but motor neuron disease with dementi. In 1996, a new variant CJD (now only vCJD) was discovered as a result of a passage from BSE to humans.
PL
Choroby wywołane przez priony (prion diseases) lub pasażowalne encefalopatie gąbczaste (transmissible spongiform encephalopathies, TSE) to grupa chorób neurozwyrodnieniowych charakteryzująca się odkładaniem w ośrodkowym układzie nerwowym i w niektórych innych tkankach patologicznej izoformy białka prio-nu, PrPd (prion protein). U ludzi do grupy tej zalicza się: 1) kuru; 2) chorobę Creutzfeldta-Jakoba (Creutzfeldt-Jakob disease, CJD), która występuje w czterech postaciach: • sporadycznej CJD (sCJD), • rodzinnej CJD (fCJD, od familial), • jatrogennej CJD (jCJD), • wariancie CJD (vCJD); 3) chorobę Gerstmanna-Strausslera-Scheinkera (GSS); 4) śmiertelną rodzinną bezsenność (fatal familial insomnia, FFI). U zwierząt występuje kilka chorób niebędących przedmiotem niniejszego opracowania: - scrapie - u owiec, kóz i muflonów; - pasażowalna encefalopatia bydła (bovine spongiform encephalopathy, BSE) i atypowa BSE (bovine atypical spongiform encephalopathy, BASE) lub „choroba szalonych krów” (mad cow disease); - BSE przepasażowana na: • koty domowe (feline spongiform encephalopathy, FSE), lwa, tygrysa, geparda, ocelota i pumę, • egzotyczne gatunki antylop (m.in. kudu, nyala, oryks), bizona; - przewlekła choroba wyniszczająca (chronic wasting disease, CWD) u małych jeleni i jelenia wapiti w USA; - pasażowalna encefalopatia norek. Historycznie w obrębie CJD wyróżnia się eponimiczne zespoły: ataktyczny (Betty Brownell), ze ślepotą korową (Heidenhaina) i panencefalopatyczny (Tateishi). Typ amiotroficzny jest to stwardnienie zanikowe boczne z otępieniem, aczkolwiek w przypadkach CJD o długim przebiegu zajęcie motoneuronu dolnego (amio-trofia) jest relatywnie częste. W 1996 roku wyróżniono tzw. nowy wariant CJD (nvCJD; obecnie wariant CJD, vCJD), będący wynikiem przepasażowania choroby szalonych krów (encefalopatii gąbczastej bydła, bovine spongiform encephalopathy, BSE) na człowieka.
Discipline
Year
Volume
7
Issue
3
Pages
158-187
Physical description
References
  • 1. Cuille J., Chelle P.L.: La maladie dite tremblante du mouton estelle inculable? Comptes rendus des Seances de l’Academie des Sciences (Paris) 1936; 203: 1552-1554.
  • 2. Meggendorfer F. von: Klinische und genealogische Beobachtungen bei einem Fall von spastischer pseudo-sklerose Jakobs. Z. Ges. Neurol. Psychiatr. 1930; 128: 337-341.
  • 3. Gajdusek D.C., Zigas V: Degenerative disease of the central nervous system in New Guinea. The endemic occurrence of “kuru” in the native population. N. Engl. J. Med. 1957; 257: 974-978.
  • 4. Sigurdson B.: Rida, a chronic encephalitis of sheep. With general remarks on infections which develop slowly and some of their special characteristics. Br. Vet. J. 1954; 110: 341-359.
  • 5. Gibbs C.J., Jr, GajdusekD.C., Asher D.M. i wsp.: Creutz-feldt-Jakob disease (spongiform encephalopathy): transmission to chimpanzee. Science 1968; 161: 388-389.
  • 6. Masters C.L., Gajdusek D.C., Gibbs C.J. Jr: Creutz-feldt-Jakob disease virus isolations from the Gerstmann-Straussler syndrome. With an analysis of the various forms of amyloid plaque deposition in the virus induced spongiform encephalopathies. Brain 1981; 104: 559-588.
  • 7. Lugaresi E., Medori R., Montagna P i wsp.: Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei. N. Engl. J. Med. 1986; 315: 997-1004.
  • 8. Collinge J., Palmer M.S., Sidle K.C.L. i wsp.: Transmission of fatal familial insomnia to laboratory animals. Lancet 1995; 346: 569-570.
  • 9. Prusiner S.B.: Novel proteinaceous infection particles cause scrapie. Science 1982; 216: 136-144.
  • 10. Wadsworth J.D., Collinge J.: Update on human prion disease. Biochim. Biophys. Acta 2007; 1772: 598-609.
  • 11. Daude N., Lehmann S., Harris D.A.: Identification of intermediate steps in the conversion of a mutant prion protein to a scrapie-like form in cultured cells. J. Biol. Chem. 1997; 272: 11604-11612.
  • 12. Marella M., Lehmann S., Grassi J. i wsp.: Filipin prevents pathological prion protein accumulation by reducing endocytosis and inducing cellular PrP release. J. Biol. Chem. 2002; 277: 25457-25464.
  • 13. Fevrier B., Vilette D., Archer F. i wsp.: Cells release prions in association with exosomes. Proc. Natl Acad. Sci. USA 2004; 10: 9683-9688.
  • 14. Solomon A., Richey T., Murphy C.L. i wsp.: Amyloidogenic potential of foie gras. Proc. Natl Acad. Sci. USA 2007; 104: 10998-11001.
  • 15. Westergard L., Christensen H.M., Harris D.A.: The cellular prion protein (PrP(C)): its physiological function and role in disease. Biochim. Biophys. Acta 2007; 1772: 629-644.
  • 16. Fournier J.G., Escaig-Haye F., Grigoriev V: Ultrastructural localization of prion proteins: physiological and pathological implications. Microsc. Res. Techn. 2000; 50: 76-88.
  • 17. Sales N., Rodolfo K., Hassig R. i wsp.: Cellular prion protein localization in rodent and primate brain. Eur. J. Neurosci. 1998; 10: 2464-2471.
  • 18. WitusikM., Gresner S.M., Hulas-Bigoszewska K. iwsp.: Neuronal and astrocytic cells, obtained after differentiation of human neural GFAP-positive progenitors, present heterogeneous expression of PrP(c). Brain Res. 2007: 1186:65-73.
  • 19. Premzl M., Sangiorgio L., Strumbo B. i wsp.: Shadoo, a new protein highly conserved from fish to mammals and with similarity to prion protein. Gene 2003; 314: 89-102.
  • 20. Watts J.C., Drisaldi B., Ng V. i wsp.: The CNS glycoprotein Shadoo has PrP(C)-like protective properties and displays reduced levels in prion protein infections. EMBO J. 2007; 26: 4038-4050.
  • 21. Kretzschmar H.A., Tings T, Madlung A. i wsp.: Prion protein as copper-binding protein at the synapse. W: Baker H.F. (red.): Molecular Pathology of the Prions. Humana Press, Totowa, New Jersey 2001: 17-30.
  • 22. Bratosiewicz J., Liberski P.P., Kulczycki J. i wsp.: Codon 129 polymorphism of the PRNP gene in normal Polish population and in Creutzfeldt-Jakob disease, and the search for new mutations in PRNP gene. Acta Neurobiol. Exp. (Wars). 2001; 61: 151-156.
  • 23. Bratosiewicz J., Kordek R., Kulczycki J. i wsp.: Molecular analysis of PRNP gene in Polish population and in Creutzfeldt-Jakob disease. Folia Neuropathol. 1999; 37: 277-280.
  • 24. Collinge J., Palmer M.S., Dryden A.J.: Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease. Lancet 1991; 337: 1441-1442.
  • 25. Mead S., Mahal S.P., Beck J. i wsp.: Sporadic - but not variant - Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1. Am. J. Hum. Genet. 2001; 69: 1225-1235.
  • 26. Vollmert C., Windl O., Xiang W. i wsp.: Significant association of a M129V independent polymorphism in the 5’ UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study. J. Med. Genet. 2006; 43: e53.
  • 27. Bratosiewicz-Wasik J., Liberski PP., Golanska E. i wsp.: Regulatory sequences on the PRNP gene influence susceptibility to sporadic Creutzfeldt-Jakob disease. Neu-rosci. Lett. 2007; 411: 163-167.
  • 28. Lehmann S., Harris DA: Amutant prion protein displays an aberrant membrane association when expressed in cultured cells. J. Biol. Chem. 1995; 270l: 24589-24597.
  • 29. IvanovaL., Barmada S., Kummer T. iwsp.: Mutant prion proteins are partially retained in the endoplasmic reticulum. J. Biol. Chem. 2001; 276: 42409-42421.
  • 30. Hegde R.S., Mastrianni J.A., Scott M.R. i wsp.: A transmembrane form of the prion protein in neurodegenerative disease. Science 1998; 279: 827-834.
  • 31. Yin S., Pham N., Yu S. iwsp.: Human prion proteins with pathogenic mutations share common conformational changes resulting in enhanced binding to glycosamino-glycans. Proc. Natl Acad. Sci. USA 2007; 104: 7546-7551.
  • 32. Peoc’h K., Guerin C., Brandel J.P. i wsp.: First report of polymorphisms in the prion-like protein gene (PRND): implications for human prion diseases. Neurosci. Lett. 2000; 286: 144-148.
  • 33. Golanska E., Hulas-Bigoszewska K., Rutkiewicz E. i wsp.: Polymorphisms within the prion (PrP) and prion-like protein (Doppel) genes in AD. Neurology 2004; 62: 313-315.
  • 34. Tintner R., Brown P., Hedley-Whyte E.T. i wsp.: Neuropathologic verification of Creutzfeldt-Jakob disease in the exhumed American recipient of human pituitary growth hormone: epidemiologic and pathogenetic implications. Neurology 1986; 36: 932-936.
  • 35. Yamanouchi H., Budka H., Vass K.: Unilateral Creutz-feldt-Jakob disease. Neurology 1986; 36: 1517-1520.
  • 36. Masters C.L., Richardson E.P.: Subacute spongiform encephalopathy (Creutzfeldt-Jakob disease). The nature and progression of spongiform change. Brain 1978; 101: 333-344.
  • 37. Hainfellner J., Brantner-Inhaler S., Cervenakova L. i wsp.: The original Gerstmann-Straussler-Scheinker family of Austria: divergent clinicopathological phenotypes but constant PrP genotype. Brain Pathol. 1995; 5: 201-211.
  • 38. Hainfellner J.A., Liberski P.P., Guiroy D.C. i wsp.: Pathology and immunocytochemistry of a kuru brain. Brain Pathol. 1997; 7: 547-554.
  • 39. Meier C.: Occurrence of lymphocytes in the cortical neuropil in a case of Creutzfeldt-Jakob disease. Acta Neuropathol. (Berl.) 1980; 52: 69-72.
  • 40. Arendt T., Bigl V, Arendt A.: Neurone loss in the nucleus basalis Meynert in Creutzfeldt-Jakob disease. Acta Neuropathol. (Berl.) 1984; 65: 85-88.
  • 41. Cartier L., Verdugo R., Vergara C. i wsp.: The nucleus basalis of Meynert in 20 definite cases of Creutzfeldt-Jakob disease. J. Neurol. Neurosurg. Psychiatry 1989; 52: 304-309.
  • 42. Masullo C., Macchi G.: Resistance of the hippocampus in Creutzfeldt-Jakob disease. Clin. Neuropathol. 1997; 16: 37-44.
  • 43. DeArmond S.J., Ironside J.W., Bouzamondo-Bernstein E. i wsp.: Neuropathology of prion diseases. W: Prusin-er S.B. (red.): Prion Biology and Diseases. Cold Spring Harbor Laboratory Press, New York 2004: 777-856.
  • 44. Guentchev M., Hainfellner J.A., Trabattoni G.R. i wsp.: Distribution of parvalbumin-immunoreactive neurons in brain correlates with hippocampal and temporal cortical pathology in Creutzfeldt-Jakob disease. J. Neuropathol. Exp. Neurol. 1997; 56: 1119-1124.
  • 45. Nakazato Y., Hirato Y., Ishida Y. i wsp.: Swollen cortical neurons in Creutzfeldt-Jakob disease contain a phosphorylated neurofilament epitope. J. Neuropathol. Exp. Neurol. 1990; 49: 197-205.
  • 46. Liberski EE, Budka H.: Neuroaxonal pathology in Creutz-feldt-Jakob disease. Acta Neuropathol. (Berl). 1999; 97: 329-334.
  • 47. Kato S., Hirano A., Umahara T. i wsp.: Ultrastructural and immunohistochemical studies on ballooned cortical neurons in Creutzfeldt-Jakob disease: expression of aB-crystallin ubiquitin and stress-response protein 27. Acta Neuropathol. (Berl.) 1992; 84: 443-448.
  • 48. Ironside J.W., McCardle L., Hayward P.A.R. i wsp.: Ubiquitin immunocytochemistry in human spongiform encephalopathies. Neuropathol. Appl. Neurobiol. 1992: 19: 134-140.
  • 49. Suenaga T, Hirano A., Llena J.F. i wsp.: Ubiquitin immunoreactivity in kuru plaques in Creutzfeldt-Jakob disease. Ann. Neurol. 1990; 28: 174-177.
  • 50. Ferrer I., Casas R., Rivera R.: Paravalbumin-immunoreactive cortical neurons in Creutzfeldt-Jakob disease. Ann. Neurol. 1993; 34: 864-866.
  • 51. Guentchev M., Groschup M.H., Kordek R. i wsp.: Severe, early and selective loss of a subpopulation of GABA-ergic inhibitory neurons in experimental transmissible spongiform encephalopathies. Brain Pathol. 1998; 8: 615-623.
  • 52. Tiller-Borcich J.K., Urich H.: Abnormal arborizations of Purkinje cell dendrites in Creutzfeldt-Jakob disease: a manifestation of neuronal plasticity? J. Neurol. Neurosurg. Psychiatry 1986; 49: 581-584.
  • 53. Berciano J., Berciano M.T., Polo J.M. i wsp.: Creutzfeldt-Jakob disease with severe involvement of cerebral white matter and cerebellum. Virchows Arch. A. Pathol. Anatom. 1990; 417: 533-538.
  • 54. Chou S.M., Martin J.D.: Kuru-plaques in a case of Creutzfeldt-Jakob disease. Acta Neuropathol. (Berl.) 1971; 17: 150-155.
  • 55. Miyazono M., Iwaki T, Kitamoto T. i wsp.: A comparative immunohistochemical study of kuru and senile plaques with a special reference to glial reactions at various stages of amyloid plaque formation. Am. J. Pathol. 1991; 139: 589-598.
  • 56. Barcikowska M., Liberski P.P., Boellaard J. i wsp.: Microglia is a component of the prion protein amyloid plaque in the Gerstmann-Straussler-Scheinker syndrome. Acta Neuropathol. (Berl.) 1993; 85: 623-627.
  • 57. Brown P., Gibbs C.J. Jr, Rodgers-Johnson P. i wsp.: Human spongiform encephalopathy: the National Institutes of Health series of 300 cases of experimentally transmitted disease. Ann. Neurol. 1994; 35: 513-529.
  • 58. Pearlman R.L., Towfighi J., Pezeshkpour G.H. i wsp.: Clinical significance of types of cerebellar amyloid plaques in human spongiform encephalopathies. Neurology 1988; 38: 1249-1254.
  • 59. Liberski P.P, Yanagihara R., Gibbs C.J. Jr i wsp.: Appearance of tubulovesicular structures in experimental Creutzfeldt-Jakob disease and scrapie precedes the onset of clinical disease. Acta Neuropathol. (Berl.) 1990; 79: 349-354.
  • 60. Liberski PP, Budka H., Sluga E. i wsp.: Tubulovesicular structures in Creutzfeldt-Jakob disease. Acta Neuropathol. (Berl.) 1992; 84: 238-243.
  • 61. Liberski PP, Budka H.: Tubulovesicular structures in Gerstmann-Straussler-Scheinker disease. Acta Neuropathol. 1994; 88: 491-492.
  • 62. Liberski P.P., Jeffrey M.: Tubulovesicular structures: what are they really? Microsc. Res. Tech. 2000; 50: 46-57.
  • 63. Gibson PH., Doughty LA: An electron microscopic study of inclusion bodies in synaptic terminals of scrapie-infected animals. Acta Neuropathol. (Berl). 1989: 77: 420-425.
  • 64. Jeffrey M., Goodsir C.M., Race R.E. i wsp.: Scrapie-specific neuronal lesions are independent of neuronal PrP expression. Ann. Neurol. 2004; 55: 781-792.
  • 65. Manuelidis L., Yu Z.X., Barquero N. i wsp.: Cells infected with scrapie and Creutzfeldt-Jakob disease agents produce intracellular 25-nm virus-like particles. Proc. Natl Acad. Sci. USA 2007; 104: 1965-1970.
  • 66. Liberski P.P., Brown.: Disease-specific particles without prion protein in prion diseases - phenomenon or epiphenomenon? Neuropathol. Appl. Neurobiol. 2007; 33: 395-397.
  • 67. Kretzschmar H.A., Prusiner S.B., Stowring L.E. i wsp.: Scrapie prion proteins are synthesized in neurons. Am. J. Pathol. 1986; 122: 1-5.
  • 68. Moser M., Colello R.J., Pott U. i wsp.: Developmental expression of the prion protein gene in glial cells. Neuron 1995; 14: 509-517.
  • 69. Moudjou M., Frobert Y., Grassi J. i wsp.: Cellular prion protein status in sheep: tissue-specific biochemical signatures. J. Gen. Virol. 2001; 82: 2017-2024.
  • 70. Zanusso G., Vattemi G., Ferrari S. i wsp.: Increased expression of the normal cellular isoform of prion protein in inclusion-body myositis, inflammatory myopathies and denervation atrophy. Brain Pathol. 2001; 11: 182-189.
  • 71. Pammer J., Weninger W., Tschachler E.: Human keratinocytes express cellular prion-related proteins in vitro and during inflammatory skin diseases. Am. J. Pathol. 1998; 153: 1353-1358.
  • 72. Kitada T., Seki S., Ikeda K. i wsp.: Clinicopathological characterization of prion: a novel marker of activated human hepatic stellate cells. J. Hepatol. 2000; 33: 751-757.
  • 73. Voigtlander T, Kloppel S., Birner P. i wsp.: Marked increase of neuronal prion protein expression in Alzheimer’s disease and human prion diseases. Acta Neuropathol. (Berl.) 2001; 101: 417-423.
  • 74. Budka H., Aguzzi A., Brown P i wsp.: Neuropathological diagnostic criteria for Creutzfeldt-Jakob disease (CJD) and other human spongiform encephalopathies (prion diseases). Brain Pathol. 1995; 5: 459-466.
  • 75. Kretzschmar H.A., Ironside J.W, DeArmond S.J. i wsp.: Diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Arch. Neurol. 1996; 53: 913-920.
  • 76. Almer G., Hainfellner J.A., Brucke T. i wsp.: Fatal familial insomnia: a new Austrian family. Brain 1999; 122: 5-16.
  • 77. Schulz-Schaeffer WJ., Tschoke S., Kranefuss N. i wsp.: The paraffin-embedded tissue blot detects PrP(Sc) early in the incubation time in prion diseases. Am. J. Pathol. 2000; 156: 51-56.
  • 78. Giaccone G., Canciani B., Puoti G. i wsp.: Creutzfeldt-Jakob disease: Carnoy’s fixative improves the immunohistochemistry of the proteinase K-resistant prion protein. Brain Pathol. 2000; 10: 31-37.
  • 79. Budka H.: The human prion diseases: from neuropathology to pathobiology and molecular genetics. Final report of an EU Concerted Action. Neuropathol. Appl. Neurobiol. 1997; 23: 416-422.
  • 80. Hill A.F., Butterworth R.J., Joiner S. i wsp.: Investigation of variant Creutzfeldt-Jakob disease and other human prion diseases with tonsil biopsy samples. Lancet 1999: 353: 183-189.
  • 81. Groschup M.H., Beekes M., McBride PA. i wsp.: Deposition of disease-associated prion protein involves the peripheral nervous system in experimental scrapie. Acta Neuropathol. 1999; 98: 453-457.
  • 82. Hainfellner J.A., Budka H.: Disease associated prion protein may deposit in the peripheral nervous system in human transmissible spongiform encephalopathies. Acta Neuropathol. (Berl.) 1999; 98: 458-460.
  • 83. Hainfellner J.A., Budka H.: Immunomorphology of human prion diseases. W: Court L., Dodet B. (red.): Transmissible Spongiform Encephalopathies: Prion Diseases. Elsevier, Paris 1996: 75-80.
  • 84. Kordek R., Hainfellner J.A., Liberski PP i wsp.: Deposition of the prion protein (PrP) during the evolution of experimental Creutzfeldt-Jakob disease. Acta Neuro-pathol. 1999; 98: 597-602.
  • 85. Budka H.: Histopathology and immunohistochemistry of human transmissible spongiform encephalopathies (TSEs). Arch. Virol. Suppl. 2000; 16: 135-142.
  • 86. Hilton D.A., Ghani A.C., Conyers L. i wsp.: Accumulation of prion protein in tonsil and appendix: review of tissue samples. Br. Med. J. 2002; 325: 633-634.
  • 87. Mabbott N.A., Bruce M.E.: Follicular dendritic cells as targets for intervention in transmissible spongiform encephalopathies. Semin. Immunol. 2002; 14: 285-293.
  • 88. Bell J.E., Gentleman S.M., Ironside J.W. i wsp.: Prion protein immunocytochemistry -UK five centre consensus report. Neuropathol. Appl. Neurobiol. 1997; 23: 26-35.
  • 89. Van Everbroeck B., Palsa P, Martina J.J. i wsp.: Antigen retrieval in prion protein immunohistochemistry. J. His-tochem. Cytochem. 1999; 47: 1465-1470.
  • 90. Kovacs G.G., Head M.W., Hegyi I. i wsp.: Immunohistochemistry for the prion protein: comparison of different monoclonal antibodies in human prion disease subtypes. Brain Pathol. 2002; 12: 1-11.
  • 91. Parchi P, Giese A., Capellari S. i wsp.: Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann. Neurol. 1999; 46: 224-233.
  • 92. Hill A.F., Joiner S., Wadsworth J.D.F. i wsp.: Molecular classification of sporadic Creutzfeldt-Jakob disease. Brain 2003; 126: 1333-1346.
  • 93. Koperek O., Kovacs G.G., Ritchie D. i wsp.: Disease-associated prion protein in vessel walls. Am. J. Pathol. 2002; 161: 1979-1984.
  • 94. Gibbs C.J., Masters C.L., Gajdusek D.C.: Bibliography of Creutzfeldt-Jakob disease, U.S. Dept. Health and Human Services, Bethesda 1983: 169.
  • 95. Daniel P.M.: Creutzfeldt-Jakob disease. J. Clin. Pathol. 1972; 25 (supl. 6): 97-101.
  • 96. Heidenhain A.: Klinische und Anatomische Untersuch-ungen uber eine eigenartige organische Erkrankung des Zentralnervensystems im Prasenium. Z. Ges. Neurol. Psychiatr. 1929; 118: 49-114.
  • 97. Brownell B., Oppenheimer D.R.: An ataxic form of subacute presenile polioencephalopathy (Creutzfeldt-Jakob disease). J. Neurol. Neurosurg. Psychiatry 1965; 28: 350-361.
  • 98. Siedler H., Malamud N.: Creutzfeldt-Jakob disease. Clinicopathological report of 15 cases and review of the literature (with special reference to a related disorder designated as subacute spongiform encephalopathy). J. Neuropathol. Exp. Neurol. 1963; 22: 381-402.
  • 99. Malamud N.: Creutzfeldt-Jakob disease: a clinicopat-ghological study. W: Prusiner S.B., Halow WJ. (red.): Slow Transmissible Diseases of the Nervous System, Vol. 1. Academic Press, New York 1979: 271-285.
  • 100. Ironside J.W, Head M.W.: Human prion diseases. W: Esiri M., Lee VM.-Y., Trojanowski J. Q. (red.): The Neuropathology of Dementia. Cambridge University Press, Cambridge 2004: 402-426.
  • 101. Budka H., Head M.W, Ironside J.W i wsp.: Sporadic Creutzfeldt-Jakob Disease. W: Dickson D. (red.): Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders. ISN Neuropath Press, Basel 2003: 287-297.
  • 102. Krebs B., Bader B., Klehmet J. i wsp.: A novel subtype of Creutzfeldt-Jakob disease characterized by a small 6 kDa PrP fragment. Acta Neuropathol. (Berl.) 2007; 114: 195-199.
  • 103. Puoti G., Giaccone G., Rossi G. i wsp.: Sporadic Creutzfeldt-Jakob disease: co-occurence of different types of PrP(Sc) in the same brain. Neurology 1999; 53:2173-2176.
  • 104. Head M.W., Tissingh G., Uitdehaag B.M. i wsp.: Sporadic Creutzfeldt-Jakob disease in a young Dutch valine homozygote: atypical molecular phenotype. Ann. Neurol. 2001; 50: 258-261.
  • 105. Brown P., Cathala F., Castaigne P. i wsp.: Creutzfeldt-Jakob disease: clinical analysis of a consecutive series of 230 neuropathologically verified cases. Ann. Neurol. 1986; 20: 597-602.
  • 106. Brown P., Rogers-Johnson P., Cathala F. i wsp.: Creutzfeldt-Jakob disease of long duration: clinicopathological characteristics, transmissibility, and differential diagnosis. Ann. Neurol. 1984; 16: 295-304.
  • 107. Mizutani T.: Panencephalopathic type of Creutzfeldt-Jakob disease. W: Mizutani T., Shiraki H. (red.): Clinico-pathological Aspects of Creutzfeldt-Jakob Disease. Elsevier, Nishimura, Amsterdam, Niigata 1985: 123-162.
  • 108. Sasaki A., Hirato J., Nakazato Y.: Immunohistochemical study of microglia in the Creutzfeldt-Jakob diseased brain. Acta Neuropathol. (Berl.) 1993; 86: 337-344.
  • 109. Kawata A., Suga M., Oda M. i wsp.: Creutzfeldt-Jakob disease with congophilic Kuru plaques: CT and pathological findings of the cerebral white matter. J. Neurol. Neurosurg. Psychiatry 1992; 55: 849-851.
  • 110. Pietrini V, Danieli D., Bevilacqua P. i wsp.: Panencephalopathic type of Creutzfeldt-Jakob disease with neuropatho-logical features similar to Pick’s disease. Clin. Neuropathol. 1993; 12: 1-6.
  • 111. Meyer A.: Uber eine der amyotrophischen Lateral-sclerose nahestehende Erkrankung mit psychischen Storungen. Z. Ges. Neurol. Psychiatr. 1929; 121: 107-138.
  • 112. Salazar A.M., Masters C.L., GajdusekD.C. i wsp.: Syndromes of amyotrophic lateral sclerosis and dementia: relation to transmissible Creutzfeldt-Jakob disease. Ann. Neurol. 1983; 14: 17-26.
  • 113. Liberski PP., Budka H.: An overwiew of neuropathology of the slow unconventional virus infections. W: Liberski P.P. (red.): Light and Electron Microscopic Neuropathology of Slow Virus Disorders. CRC Press, Boca Raton 1993: 111-151.
  • 114. Kirschbaum W.R.: Jakob-Creutzfeldt Disease (spastic pseudosclerosis, A. Jakob; Heidenhain syndrome; subacute spongiform encephalopathy). American Elsevier, New York 1968: 251.
  • 115. Pastore M., Castellani R.J., Chin S. i wsp.: CJD-associ-ated with the nove R148H prion protein gene mutation. J. Neuropathol. Exp. Neurol. 2002; 61: 491.
  • 116. Finckh U., Muller-Thomsen T., Mann U. i wsp.: High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. Am. J. Hum. Genet. 2000; 66: 110-117.
  • 117. Friede R.I., DeJong R.N.: Neuronal enzymatic failure in Creutzfeldt-Jakob disease. Arch. Neurol. 1964; 10: 181-195.
  • 118. Masters C.L., Gajdusek D.C., Gibbs C.J. Jr: The familial occurrence of Creutzfeldt-Jakob disease and Alzheimer’s disease. Brain 1981; 104: 535-558.
  • 119. Goldfarb L.G., Haltia M., Brown P i wsp.: New mutation in scrapie amyloid precursor gene (at codon 178) in Finish Creutzfeldt-Jakob disease. Lancet 1991; 337: 425.
  • 120. Haltia M., Kovanen J., Van Crevel H. i wsp.: Familial Creutzfeldt-Jakob disease. J. Neurol. Sci. 1979; 42: 381-389.
  • 121. Haltia M., Kovanen J., Golfrab L.G. i wsp.: Familial Creutzfeldt-Jakob disease in Finland: epidemiological, clinical, pathological and molecular genetic studies. Eur. J. Epidemiol. 1991; 7: 494-500.
  • 122. Kretzschmar H.A., Neumann M., Stavrou D.: Codon 178 mutation of the human prion protein gene in a German family (Backer family): sequencing data from 72-year-old celloidin-embedded brain tissue. Acta Neuropathol. 1995; 89: 96-98.
  • 123. Brown P., Goldfarb L.G., McCombie W.R. i wsp.: Atypical Creutzfeldt-Jakob disease in an American family with an insert mutation in the PRNP amyloid precursor gene. Neurology 1992; 42: 422-427.
  • 124. Kong Q., Surewicz WK., Petersen R.B. i wsp.: Inherited prion diseases. W: Prusiner S.B. (red.): Prion Biology and Diseases. Cold Spring Harbor Laboratory Press, New York 2004: 673-775.
  • 125. Hitoshi N., Nagura H., Yamanouchi H. i wsp.: Double mutations at codon 180 and 232 of the PRNP gene in an apparently sporadic case of Creutzfeldt-Jakob disease. J. Neurol. Sci. 1993; 120: 208-212.
  • 126. Kopito R.R.: Aggresomes, inclusion bodies and protein aggregation. Trends Cell Biol. 2000; 10: 524-530.
  • 127. Nixon R., Camicioli R., Jamison K. i wsp.: The PRNP-V180I mutation is associated with abnormally glycosylated PrPCJD and intracellular PrP accumulations. Brain Pathol. 2000; 10: 670.
  • 128. Nitrini R., Rosemberg S., Passos-Bueno M.R. i wsp.: Familial spongiform encephalopathy associated with a novel prion protein gene mutation. Ann. Neurol. 1997; 42: 138-146.
  • 129. Capellari S., Parchi P., Bennett D. i wsp.: First North American report of the T183A mutation in the prion protein gene: Clinical, pathological, and biochemical analysis of one case. Neurology 1999; 52 (supl. 2): A324.
  • 130. Windl O., Giese A., Schulz-Schaeffer W i wsp.: Molecular genetics of human prion diseases in Germany. Hum. Genet. 1999; 105: 244-252.
  • 131. Cardozo J., Caruso G., Molina O. i wsp.: Familial transmissible spongiform encephalopathy with the T183A mutation on the prion protein gene (PRNP). J. Neuropathol. Exp. Neurol. 2000; 56: 433.
  • 132. Collins S., Boyd A., Fletcher A. i wsp.: Novel prion protein gene mutation in an octogenarian with Creutzfeldt-Jakob disease. Arch. Neurol. 2000; 57: 1058-1063.
  • 133. Kotta K., Paspaltsis I., Bostantjopoulou S. i wsp.: Novel mutation of the PRNP gene of a clinical CJD case. BMC Infect. Dis. 2006; 6: 169.
  • 134. Peoc’h K., Manivet P., Beaudry P. i wsp.: Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype. Hum. Mutat. 2000; 15: 482.
  • 135. Goldfarb L.G., Mitrova E., Brown P. i wsp.: Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia. Lancet 1990; 336: 514.
  • 136. Goldfarb L.G., Korczyn A.D., Brown P. i wsp.: Mutation on codon 200 of scrapie amyloid protein gene linked to Creutzfeldt-Jakob disease in Sephardic Jews of Libyan origin and non-Libyan origin. Lancet 1990; 336: 637.
  • 137. Hsiao K., Meiner Z., Kahana E. i wsp.: Mutation of the prion protein in Libyan Jews with Creutzfeldt-Jakob disease. N. Engl. J. Med. 1991; 324: 1091-1097.
  • 138. Goldfarb L., Brown P., Mitrova E. i wsp.: Creutzfeldt-Jakob disease associated with the PRNP codon 200Lys mutation: an analysis of 45 families. Eur. J. Epidem. 1991; 7: 477-486.
  • 139. Mitrova E., Belay G.: Creutzfeldt-Jakob disease with E200K mutation in Slovakia: characterization and development. Acta Virol. 2002; 46: 31-39.
  • 140. Chapman J., Arlazoroff A., Goldfarb A. i wsp.: Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200lys mutation. Neurology 1996; 46: 758-761.
  • 141. Sadeh M., Chagnac Y., Goldhammer Y.: Creutzfeldt-Jakob disease associated with peripheral neuropathy. Isr. J. Med. Sci. 1990; 26: 220-222.
  • 142. Neufeld M.Y., Josiphov J., Korczyn A.D.: Demyelinating peripheral neuropathy in Creutzfeldt-Jakob disease. Muscle Nerve 1992; 15: 1234-1239.
  • 143. Chapman J., Brown P., Goldfarb L.G. i wsp.: Clinical heterogeneity and unusual presentations of Creutzfeldt-Jakob disease in Jewish patients with PRNP codon 200 mutation. J. Neurol. Neurosurg. Psychiatry 1993; 56: 1109-1112.
  • 144. Hainfellner J.A., Parchi P., Kitamoto T. i wsp.: A novel phenotype in familial Creutzfeldt-Jakob disease: prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein. Ann. Neurol. 1999; 45: 812-816.
  • 145. Mastrianni J.A., Iannicola C., Myers R.M. i wsp.: Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease. Neurology 1996; 47:1305-1312.
  • 146. Capellari S., Ladogana A., Volpi G. i wsp.: First report of the R208H-129MM haplotype in the prion protein gene in an European subject with CJD. Neurol. Sci. 2001; 22: S109.
  • 147. Ripoll L., Laplanche J.L., Salzmann M. i wsp.: A new point mutation in the prion protein gene at codon 210 in Creutzfeldt-Jakob disease. Neurology 1993; 43:1934-1938.
  • 148. Pocchiari M., Salvatore M., Cutruzzola F. i wsp.: A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease. Ann. Neurol. 1993; 34: 802-807.
  • 149. Furukawa H., Kitamoto T., Hashiguchi H. i wsp.: A Japanese case of Creutzfeldt-Jakob disease with a point mutation in the prion protein gene at codon 210. J. Neurol. Sci. 1996; 141: 120-122.
  • 150. Mastrianni J.A., Capellari S., Telling G.C. i wsp.: Inherited prion disease caused by the V210I mutation: transmission to transgenic mice. Neurology 2001; 57: 2198-2205.
  • 151. Ladogana A., Almonti S., Petraroli R. i wsp.: Mutation of the PRNP gene at codon 211 in familial Creutzfeldt-Jakob disease. Am. J. Med. Genet. 2001; 103: 133-137.
  • 152. Hoque M.Z., Kitamoto T., Furukawa H. i wsp.: Mutation in the prion protein gene at codon 232 in Japanese patients with Creutzfeldt-Jakob disease: a clinicopathological, immunohistochemical and transmission study. Acta Neuropathol. (Berl.) 1996; 92: 441-446.
  • 153. Shiga T, Satoh K., Kitamoto T. i wsp.: Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution. J. Neurol. 2007; 254: 1509-1517.
  • 154. Gerstmann J.: Uber ein noch nicht beschriebenes Reflex-phanomen beieiner Erkrankung des zerebellaren Systems. Wien Medizin Wochenschr. 1928; 78: 906-908.
  • 155. Gerstmann J., Straussler E., Scheinker I.: Uber eine eige-nartige hereditar-familiare Erkrankung des Zetralnerven-systems. Zugleich ein Beitrag zur Frage des vorzeitigen lokalen Alterns. Z. Ges. Neurol. Psychiatr. 1936; 154: 736-762.
  • 156. Kulczycki J., Collinge J., Lojkowska W. i wsp.: Report on the first Polish case of the Gerstmann-Straussler-Scheinker syndrome. Folia Neuropathol. 2001; 39: 27-31.
  • 157. Dimitz L.: Bericht der Vereines fur Psychiatrie und Neurologie in Wien (Vereinsjahr 1912/1913), Sitzung vom 11 Juni 1912. Jahrb. Psychiatr. Neurol. 1913; 34: 384.
  • 158. Braunmuhl von A.: Uber eine eigenartige hereditaer-familiaere Erkrankung des Zentralnervensystems. Arch. Psychiatr. Z. Neurol. 1954; 191: 419-449.
  • 159. Seitelberger F.: Eigenartige familiar-hereditare Krankheit des Zetralnervensystems in einer niederosterreichischen Sippe. Wien Klin. Wochen 1962; 74: 687-691.
  • 160. Seitelberger F.: Neuropathological conditions related to neuroaxonal dystrophy. Acta Neuropathol. (Berl.) 1971; 5 (supl. 5): 17-29.
  • 161. Gajdusek D.C., Gibbs C.J., Alpers M.P.: Experimental transmission of a kuru-like syndrome to chimpanzees. Nature 1966; 209: 794-796.
  • 162. Doh-Ura K., Tateishi J., Kitamoto T. i wsp.: Creutzfeldt-Jakob disease patients with congophilic kuru plaques have the missense variant prion protein common to Gerstmann-Straussler syndrome. Ann. Neurol. 1990; 27: 121-126.
  • 163. Irisawa M., Amanuma M., Kozawa. i wsp.: A case of Gerstmann-Straussler-Scheinker syndrome. Magn. Reson. Sci. 2007; 6: 53-57.
  • 164. Goldgaber D., Goldfarb L., Brown P. i wsp.: Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker syndrome. Exp. Neurol. 1989; 106: 204-206.
  • 165. Brown P., Goldfarb L.G., Brown WT. i wsp.: Clinical and molecular genetic study of a large German kindred with Gerstmann-Straussler-Scheinker syndrome. Neurology 1991;41:375-379.
  • 166. Boellaard J.W., Schlote W.: Subakute spongiforme Encephalopathie mit multiformer Plaquebildung. Eige-nartige familiar-hereditare Kranknheit des Zentralnerven-systems [spino-cerebellare Atrophie mit Demenz, Plaques and plaqueahnlichen im Klein- and Grosshirn (Gerst-mann, Straussler, Scheinker)]. Acta Neuropathol. (Berl.) 1980; 49: 205-212.
  • 167. Schumm F., Boellaard J.W, Schlote W. i wsp.: Morbus Gerstmann-Straussler-Scheinker. Familie SCh. - Ein Bericht uber drei Kranke. Arch. Psychiatr. Nervenkr. 1981; 230: 179-196.
  • 168. Collinge J., Harding A.E., Owen F. i wsp.: Diagnosis of Gerstmann-Straussler syndrome in familial dementia with prion protein gene analysis. Lancet 1989; 2: 15-17.
  • 169. Kretzschmar H.A., Honold G., Seitelberger F. i wsp.: Prion protein mutation in family first reported by Gerst-mann, Straussler, and Scheinker. Lancet 1991; 337:1160.
  • 170. Liberski P.P., Budka H.: Ultrastructural pathology of Gerstmann-Straussler-Scheinker disease. Ultrastr. Pathol. 1995; 19: 23-36.
  • 171. Kitamoto T, Tateishi J.: Immunohistochemical confirmation of Creutzfeldt-Jakob disease with a long clinical course with amyloid plaque core antibodies. Am. J. Pathol. 1988; 131: 435-443.
  • 172. Ghetti B., Bugiani O., Tagliavini F. i wsp.: Gerstmann-Straussler-Scheinker disease. W: Dickson D. (red.): Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders. ISN Neuropath Press, Basel 2003: 318-325.
  • 173. Nakazato Y., Ohno R., Negishi T. i wsp.: An autopy case of Gerstmann-Straussler-Scheinker’s disease with spastic paraplegia as its principal feature. Clin. Neuropathol. 1991; 31: 987-992.
  • 174.Amano N., Yagishita S., Yokoi S.: Gerstmann-Straussler-Scheinker syndrome - a variant type: amyloid plaques and Alzheimer’s neurofibrillary tangles in cerebral cortex. Acta Neuropathol. (Berl.) 1992; 84: 15-23.
  • 175. Kitamoto M., Amano N., Terao Y. i wsp.: A new inherited prion disease (PrP P105L mutation) showing spastic paraparesis. Ann. Neurol. 1993; 34: 808-813.
  • 176. Kitamoto T., Ohta M., Doh-Ura K. i wsp.: Novel mis-sense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Straussler-Scheinker syndrome. Bioch. Bioph. Res. Comm. 1993; 191: 709-714.
  • 177.Yamada M., Itoh Y., Fujigasaki H. i wsp.: A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerst-mann-Straussler-Scheinker disease. Neurology 1993; 43: 2723-2724.
  • 178. Doh-Ura K., Tateishi J., Sakaki Y. i wsp.: Pro^Leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Straussler-Scheinker syndrome. Biochem. Biophys. Res. Comm. 1989; 163: 974-979.
  • 179. Hsiao K., Dlouhy S.R., Farlow M.R. i wsp.: Mutant prion proteins in Gerstmann-Straussler-Scheinker disease with neurofibrillary tangles. Nat. Gen. 1992; 1: l 68-71.
  • 180. Mastrianni J.A., Curtis M.T., Oberholtzer J.C. i wsp.: Prion disease (PrP - A117V) presenting with ataxia instead of dementia. Neurology 1996; 45: 2042-2050.
  • 181. Panegyres P.K., Toufexis K., Kakulas B.A. i wsp.: A new PRNP mutation (G131V) associated with Gerstmann-Straussler-Scheinker disease. Arch. Neurol. 2001; 58: 1899-1902.
  • 182. Kitamoto T., Iizuka R., Tateishi J.: An amber mutation of prion protein in Gerstmann-Straussler syndrome with mutant PrP plaques. Bioch. Biophys. Res. Comm. 1993; 192:525-531.
  • 183. Butefisch C.M., Gambetti P., Cervenakova L. i wsp.: Inherited prion encephalopathy associated with the novel PRNP H187R mutation: a clinical study. Neurology 2000; 55: 517-522.
  • 184. Dlouhy S.R., Hsiao K., Farlow M.R. i wsp.: Linkage of the Indiana kindred of Gerstmann-Straussler-Scheinker disease to the prion protein gene. Nat. Gen. 1992; 1: 64-67.
  • 185. Mirra S.S., Young K., Gearing M. i wsp.: Coexistence of prion protein (PrP) amyloid, neurofibrillary tangles and Lewy bodies in Gerstmann-Straussler-Scheinker disease with prion gene (PRNP) mutation F198S. Brain Pathol. 1997; 7: 1378.
  • 186. Piccardo P., Dlouhy S.R., Lievens P.M.J. i wsp.: Phenotypic variability of Gerstmann-Straussler-Scheinker disease is associated with prion protein heterogeneity. J. Neuropathol. Exp. Neurol. 1998; 57: 979-988.
  • 187. Ghetti B., Piccardo P., Lievens P.M.J. i wsp.: Phenotypic and prion protein (PrP) heterogeneity in Gerstmann-Straussler-Scheinker disease (GSS) with a proline to a leucine mutation at PRNP residue 102. W: The 6th International Conference on Alzheimer’s Disease and Related Disorders, Amsterdam, 18-23 July. Neurobiol. Aging, 1998; 19: 298.
  • 188. Young K., Piccardo P., Kish S.J. i wsp.: Gerstmann-Straussler-Scheinker disease (GSS) with a mutation at prion protein (PrP) residue 212. W: The 74th Annual Meeting of the American Association of Neuropathologists Inc., Minneapolis, Minnesota, June 18-21. J. Neuropathol. Exp. Neurol. 1998; 57: 518.
  • 189. Gambetti P., Petersen R.B., Parchi P. i wsp.: Inherited prion diseases. W: Prusiner S.B. (red.): Prion Biology and Diseases. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York 1999: 509-583.
  • 190. Ikeda S., Yanagisawa N., Glenner G.G. i wsp.: Gerstmann-Straussler-Scheinker disease showing β-protein amyloid
  • deposits in the peripheral regions of PrP-immunoreactive amyloid plaques. Neurodegeneration 1992; 1:281-288.
  • 191. Ghetti B., Tagliavini F., Giaccone G. i wsp.: Familial Ger-stmann-Straussler-Scheinker disease with neurofibrillary tangles. Molec. Neurobiol. 1994; 8: 41-48.
  • 192. Ghetti B., Dlouhy S.R., Giaccone G. i wsp.: Gerstmann-Straussler-Scheinker diseases and the Indiana kindred. Brain Pathol. 1995; 5, 61-75.
  • 193. Bratosiewicz J., Barcikowska M., Cervenakowa L. i wsp.: A new point mutation of the PRNP gene in Gerstmann-Straussler-Scheinker case in Poland. Folia Neuropathol. 2000; 38: 164-166.
  • 194. Kretzschmar H.A., Stowring L.E., Westaway D. i wsp.: Molecular cloning of human prion protein cDNA. DNA 1986; 4:315-324.
  • 195. Laplanche J.J., Delasnerie-Laupretre N., Brandel J.P i wsp.: Two novel insertions in the prion protein gene in patients with late-onset dementia. Hum. Mol. Genet. 1995; 4: 1109-1111.
  • 196. Goldfarb L.G., Brown P., Little B.W i wsp.: A new (two-repeat) octapeptide coding insert mutation in Creutzfeldt-Jakob disease. Neurology 1993; 43: 2392-2394.
  • 197. Kenney K., Brown P, Little B.: Insert mutation in Creutzfeldt-Jakob disease. Neurology 1995; 45: 1428.
  • 198. Campbell TA., Palmer M.S., Will R.G. i wsp.: A prion disease with a novel 96-base pair insertional mutation in the prion protein gene. Neurology 1996; 46: 761-766.
  • 199. Goldfarb L., Brown P., McCombie WR. i wsp.: Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. Proc. Natl Acad. Sci. USA 1991; 88: 10926-10930.
  • 200. Laplanche J.L., El Hachimi K.H., Durieux I. i wsp.: Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene. Brain 1999; 122: 2375-2386.
  • 201. Isozaki E., Miyamoto K., Kagamihara Y. i wsp.: CJD presenting as frontal lobe dementia associated with a 96 base insertion in the prion protein gene. Dementia 1994; 8: 363-674.
  • 202. Yanagihara C., Yasuda M., Maeda K. i wsp.: Rapidly progressive dementia syndrome associated with a novel fours extra repeats mutation in the prion protein gene. J. Neurol. Neurosurg. Psychiatry 2002; 72: 788-791.
  • 203. Roos R., Gajdusek D.C., Gibbs C.J. Jr.: The clinical characteristics of transmissible Creutzfeldt-Jakob disease. Brain 1973; 96: 1-20.
  • 204. Cochran E.J. Bennett DA., Cervenakova L. i wsp.: Familial Creutzfeldt-Jakob disease with a five-repeat octapep-tide insert mutation. Neurology 1996; 47: 727-733.
  • 205. Cervenakova L., Goldfarb L.G., Brown P. i wsp.: Three new PRNP genotypes associated with familial Creutzfeldt-Jakob disease. Am. J. Hum. Genet. 1995; 57: A209.
  • 206. Owen F., Poulter M., Shah T. i wsp.: An in-frame insertion in the prion prtein gene in familial Creutzfeldt-Jakob disease. Molec. Brain Res. 1990; 7: 273-276.
  • 207. Owen F., Poulter M., Collinge J. i wsp.: Insertions in the prion protein gene in atypical dementia. Exp. Neurol. 1991; 112: 240-242.
  • 208. Collinge J., Brown J., Hardy J. i wsp.: Inherited prion disease with 144 base pair gene insertion. Brain 1992; 15: 687-710.
  • 209. Poulter M., Baker H.F., Frith C.D. i wsp.: Inherited prion disease with 144 base pair gene insertion. 1. Genealogical and molecular studies. Brain 1992; 115: 675-685.
  • 210. Owen F., Poulter M., Collinge J. i wsp.: A dementing illness associated with a novel insertion in the prion protein gene. Molec. Brain Res. 1992; 13: 155-157.
  • 211. Oda T, Kitamoto T, Tateishi J. i wsp.: Prion disease with 144 base pair insertion in a Japanese family line. Acta Neuropathol. (Berl.) 1995; 90: 80-86.
  • 212. Capellari S., Vital C., Parchi P. i wsp.: Familial prion disease with a novel 144 bp-insertion in the prion protein gene in a Basque family. Neurology 1997; 49: 133-141.
  • 213. Parchi P., Gambetti P.: Prion diseases and dementia. W: Wasso W, Tanzi R.E. (red.): Molecular Mechanisms of Dementia. Humana Press, Totowa, New Jersey 1997: 293-306.
  • 214. Dermaut B., Cruts M., Backhovens H. i wsp.: Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion. J. Neurol. 2000: 247; 364-368.
  • 215. Lewis V, Collins S., Hill A.F. i wsp.: Novel prion protein insert mutation associated with prolonged neurodegen-erative illness. Neurology 2003; 60: 1620-1624.
  • 216. Bounduelle M., Escourolle R., Bouygues P. i wsp.: Mal-adie de Creutzfeldt-Jakob familiale. Observation anato-mo-clinique. Rev. Neurol. 1971; 125: 197-209.
  • 217. Baron H., Cathala F., Brown P. i wsp.: Familial Creutzfeldt-Jakob disease in France: an analysis of 38 familial cases. W: Court L.A. i wsp. (red.): Unconventional Virus Diseases of the Central Nervous System. Commissariat a l’Energie Atomique, Paris 1988: 70-73.
  • 218. Genthon R., Gray F., Salama J. i wsp.: Maladie de Gerstmann-Straussler-Scheinker. Etude pathologique et genealogique. Rev. Neurol. (Paris) 1992; 148: 335-342.
  • 219. Van Gool WA., Hensels G.W, Hoogerwaard E.M. i wsp.: Hypokinesia and presenile dementia in a Dutch family with a novel insertion in the prion protein gene. Brain 1995; 118: 1565-1571.
  • 220. Jansen G.H., Wesseling P., Steenbergen H.: PrP deposition in substantia gelatinosa in a Gerstmann-Straussler-Scheinker case - its relevance to CJD etiology. Brain Pathol. 1997; 7: 1268.
  • 221. Jansen G.H., Wesseling P., VanGool WA. i wsp.: Histo-pathology and immunohistochemistry of a Gerstmann-Straussler-Scheinker family with a new octa repeat insertion. Brain Pathol. 1997; 7: 1380.
  • 222. Stam F.C., Wigboldus J.M., Grosveld F.M.: A peculiar type of presenile dementia. Psychiatr. Neurol. Neurochirur. 1968; 71: 337-350.
  • 223.Kraseman S., Zerr I., Weber T. i wsp.: Prion disease associated with a novel nine octapeptide repeat insertion in the PRNP gene. J. Neurol. Sci. 1995; 34: 173-176.
  • 224. Beck J.A., Mead S., Cambell T.A. i wsp.: Two-octapeptide repeat of prion protein associated with rapidly progressive dementia. Neurology 2001; 57: 354-356.
  • 225. Stern K.: Severe dementia associated with bilateral symetrical degeneration of the thalamus. Brain 1939; 62:157-171.
  • 226. Martin J.J.: Thalamic degenerations. W: Vinken P.J., Bruyn G.W., Klawans H.L. (red.): Handbook of Clinical Neurology, Vol. 16 (60). Hereditary Neuropathies and Spinocerebelalr Atrophies. Elsevier Sci. Publ., Amsterdam 1991: 701-715.
  • 227. Jellinger K.: Rare neurodegenerative disorders. W: Calne D.B. (red.): Neurodegenerative Diseases. W.B. Saunders Comp., Philadelphia 1994: 909-931.
  • 228. Sghirlanzoni A., Carella F.: The insomnia plaque: a Gabriel Garcia Marquez story. J. Neurol. Sci. 2000; 21:251-253.
  • 229. Parchi P., Castellani R., Cortelli P. i wsp.: Regional distribution of protease-resistant prion protein in fatal familial insomnia. Ann. Neurol. 1995; 38: 21-29.
  • 230. Billette de Villemeur T, Beauvais P, Gourmelen M. i wsp.: Creutzfeldt-Jakob disease in children treated with growth hormone. Lancet 1991; 337: 864-865.
  • 231. Goodbrand I.A., Ironside J.W, Nicolson D. i wsp.: Prion protein accumulations in the spinal cords of patients with sporadic and growth hormone-associated Creutzfeldt-Jakob disease. Neurosci. Lett. 1995; 183: 127-130.
  • 232. Bernoulli C., Siegfried J., Baumgartner G. i wsp.: Danger of accidental person to person transmission of Creutzfeldt-Jakob disease by surgery. Lancet 1977; 1: 478-479.
  • 233. Duffy P., Wolf J., Collins G. i wsp.: Possible person-to-person transmission of Creutzfeldt-Jakob disease. N. Engl. J. Med. 1974; 290: 692-693.
  • 234. Brown P., Cervenakova L., Goldfarb L.G. i wsp.: Iatrogenic Creutzfeldt-Jakob disease: an example of the interplay between ancient genes and modern medicine. Neurology 1994; 44: 291-293.
  • 235. Will R.G., Ironside J.W, Zeidler M. i wsp.: A new variant of Creutzfeldt-Jakob disease in the UK. Lancet 1996; 347: 921-925.
  • 236. Will R.G., Zeidler M., Stewart G.E. i wsp.: Diagnosis of new variant Creutzfeldt-Jakob disease. Ann. Neurol. 2000; 47: 575-582.
  • 237. Brown P., Will R.G., Bradley R. i wsp.: Bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease: background, evolution, and current concerns. Emerg. Infect. Dis. 2001; 7: 16-16.
  • 238. Allroggen H., Dennis G., Abbott R.J. i wsp.: New variant Creutzfeldt-Jakob disease: three case reports from Leicestershire. J. Neurol. Neurosurg. Psychiatry 2000; 68:375-378.
  • 239. Ironside J.W, Head M.W., Bell J.E. i wsp.: Laboratory diagnosis of variant Creutzfeldt-Jakob disease. Histopathology 2000; 37: 1-9.
  • 240. Streichenberger N., Jordan D., Verejan I.: The first cases of new variant Creutzfeldt-Jakob disease in France; clinical data and neuropathological findings. Acta Neuropathol. (Berl.) 2000; 99: 704-708.
  • 241. Zeidler M., Johnstone E.C., Bamber R.W i wsp.: New variant Creutzfeldt-Jakob disease: psychiatric features. Lancet 1997; 350: 908-910.
  • 242. Liberski PP., Ironside J., McCardle L. i wsp.: Ultrastruc-tural analysis of the florid plaque in variant Creutzfeldt-Jakob disease. Folia Neuropathol. 2000; 38: 167-170.
  • 243. Zeidler M., Sellar R.J., Collie D.A. i wsp.: The pulvinar sign on magnetic resonance imaging in variant Creutzfeldt-Jakob disease. Lancet 2000; 355, 1412-1418.
  • 244. Head M.W, Northcott V, Rennison K. i wsp.: Prion protein accumulation in eyes of patients with sporadic and variant Creutzfeldt-Jakob disease. Invest. Opthalmol. Vis. Sci. 2003; 44: 342-346.
  • 245. Ironside J.W., McCardle L., Horsburgh A. i wsp.: Pathological diagnosis of variant Creutzfeldt-Jakob disease. APMIS 2002; 11: 79-87.
  • 246. Kozubski W, Wender M., Szczech J. i wsp.: Atypical case of sporadic Creutzfeldt-Jakob disease (CJD) in a young adult. Folia Neuropathol. 1998; 36: 225-228.
  • 247. Collinge J., Sidle K.C.L., Meads J. i wsp.: Molecular analysis of prion strain variation and the aetiology of “new variant” CJD. Nature 1996; 383: 685-670.
  • 248. Hill A.F., Desbruslais M., Joiner S. i wsp.: The same prion strain causes vCJD and BSE. Nature 1997; 389:448-450.
  • 249. Collie D.A., Sellar R.J., Zeidler M. i wsp.: MRI of Creutzfeldt-Jakob disease: imaging features and recommended MRI protocol. Clin. Radiol. 2001; 6: 26-739.
  • 250. Bruce M.E., Will R.G., Ironside J.W i wsp.: Transmission of mice indicate that “new variant” CJD is caused by the BSE agent. Nature 1997; 389: 498-501.
  • 251. Scott M.R., Will R., Ironside J. i wsp.: Compelling trans-geteic evidence for transmission of bovine spongiform encephalopathy prions to humans. Proc. Natl Acad. Sci. USA 1999; 96: 15137-15142.
Document Type
article
Publication order reference
YADDA identifier
bwmeta1.element.psjd-50edb8c6-960a-4454-adec-6556568e7a22
Identifiers
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.