Polymorphism at codon 129 of the prion protein gene determines cerebellar pathology in Creutzfeldt-Jakob disease

Clinical Neuropathology

Volumn 15, Issue 6, 1996, Pages 353-357

  Schulz Schaeffer, W J ^a   Giese, A ^a   Windl, O ^a   Kretzschmar, H A ^a,b  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b Institut fur Neuropathologie   (Germany)

Author keywords

Cerebellar pathology; Creutzfeldt Jakob disease; Human spongiform encephalopathy; Immunohistochemistry; Prion protein; PRNP

Indexed keywords

METHIONINE; VALINE;

ADULT; AGED; ARTICLE; AUTOPSY; BRAIN SPONGIOSIS; CEREBELLUM; CLINICAL ARTICLE; CODON; CREUTZFELDT JAKOB DISEASE; FEMALE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; PRION; PRION DISEASE; PRIORITY JOURNAL;

ADULT; AGED; AGED, 80 AND OVER; CEREBELLUM; CODON; CREUTZFELDT-JAKOB SYNDROME; FEMALE; GENETIC MARKERS; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; PRPSC PROTEINS;

EID: 0029824332     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (35)

1. Bell JE, Ironside JW 1993 Neuropathology of spongiform encephalopathies in humans. Br Med Bull 49: 738-777
2. Berciano J, Berciano MT, Polo JM, Figols J, Ciudad J, Lafarga M 1990 Creutzfeldt-Jakob disease with severe involvement of cerebral white matter and cerebellum. Virchows Arch A 417: 533-538
3. Brown P, Cathala F, Sadowsky D, Gajdusek DC 1979 Creutzfeldt-Jakob disease in France: II. Clinical characteristics of 124 consecutive verified cases during the decade 1968-1977. Ann Neurol 6: 430- 437
4. Brown P, Cathala F, Castaigne P, Gajdusek DC 1986 Creutzfeldt-Jakob disease: clinical analysis of a consecutive series of 230 neuropathologically verified cases. Ann Neurol 20: 597-602
5. 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: 887-890
6. Brown P 1992 The phenotypic expression of different mutations in transmissible human spongiform encephalopathy. Rev Neurol (Paris) 148: 317-327
7. Brown P, Cervenáková L, Goldfarb LG, McCombie WR, Rubenstein, Will RG, Pocchiari M, Martinez Lage JF, Scalici C, Masullo C, Graupera G, Ligan J, Gajdusek DC 1994 Iatrogenic Creutzfeldt-Jakob disease: an example of the interplay between ancient genes and modern medicine. Neurology 44: 291-293
8. Collinge J, Palmer MS, Dryden AJ 1991 Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease. Lancet 337: 1441-1442
9. Collinge J, Palmer M 1991 CJD discrepancy. Nature 353: 802
10. De Silva R, Ironside JW, McCardle L, Esmonde T, Bell J, Will R, Windl 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
11. Deslys J-P, Marcé D, Dormont D 1994 Similar genetic susceptibility in iatrogenic and sporadic Creutzfeldt-Jakob disease. J Gen Virol 75: 23-27
12. Dlouhy SR, Hsiao K, Farlow MR, Foroud T, Conneally PM, Johnson P, Prusiner SB, Hodes ME, Gihetti B 1992 Linkage of Gerstmann- Sträussler-Scheinker disease to prion protein gene. Nat Genet I: 64-67
13. Doh-ura K, Kitamoto T, Sakaki Y, Tateishi L 1991 CJD discrepancy. Nature 353: 801-802
14. Gabizon R, Rosenmann H, Meiner Z, Kahana I, Kahana E, Shugart Y, Ott J, Prusiner SB 1993 Mutation and polymorphism of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease (CJD). Am J Hum Genet 53: 828-835
15. Gambetti P, Parchi P, Petersen RB, Chen SG, Lugaresi E 1995 Fatal familial insomnia and familial Creutzfeldt-Jakob disease: Clinical, pathological and molecular features. Brain Pathol 5: 43-51
16. Goldkurufarb LG, Brown P, Goldgaber D, Asher DM, Strass N, Graupera G, Piccardo P, Brown WT, Rubinstein R, Boellaard JW, Gajdusek DC 1989 Patients with Creutzfeldt-Jakob disease and Kuru lack the mutation in the PRNP gene found in Gerstmann-Sträussler syndrome, but they show a different double allele mutation in the same gene. Am J Hum Genet 45 (Suppl): A189
17. Goldfarb LG, Petersen RB, Tabaton M, Brown P, Leblanc AC, Montagna P, Cortelli P, Julien J, Vital C, Pendelbury WW, Haltia M, Wills PR, Hauw JJ, McKeever PE, Monari L, Schrank B, Swergold GD, Autilio-Gambetti L, Gajdusek DC, Lugaresi E, Gambetti P 1992 Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science 258: 806-808
18. Hauw J-J, Gray F, Baudrimont M, Escourolle R 1981 Cerebellar changes in 50 cases of Creutzfeldt-Jakob disease with emphasis on granule cell atrophy variant. Acta Neuropathol 7 (Suppl): 196-198
19. Jellinger K, Heiss W-D, Deisenhammer E 1974 The atactic (cerebellar) form of Creutzfeldt-Jakob disease. J Neurol 207: 289-305
20. Kitamoto T, Shin R-W, Doh-ura K, Tomokane N, Miyazono M, Muramoto T, Tateishi J 1992 Abnormal isoform of prion proteins accumulates in the synaptic structures of the central nervous system in patients with Creutzfeldt-Jakob disease. Am J Pathol 140: 1285-1294
21. Kretzschmar HA, Ironside JW, DeArmond SJ, Tateishi J 1996 Diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Arch Neurol in press
22. Laplanche J-L, Delasnerie-Lauprêtre N, Brandel JP, Chatelain J, Beaudry P, Alperovitch A, Launay J-M 1994 Molecular genetics of prion diseases in France. Neurology 44: 2347-2351
23. Dlouhy SR, Hsiao K, Farlow MR, Foroud T, Conneally PM, Johnson P, Prusiner SB, Hodes ME, Giletti B 1992 Linkage of Gerstmann- Sträussler-Scheinker disease to prion protein gene. Nat Genet 1: 64-67
24. Medori R, Tritschler H-J. LeBlanc A, Villare F, Manetto V, Chen HY, Xue R, Leal S, Montagna P, Cortelli B, Tinuper P, Avoni P, Moghi M, Baruzzi A, Hauw JJ, Ott J, Lugaresi E, Autilio-Gambetti 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 326: 444-449
25. Miyazono M, KitamotoT, Dohura K, Iwaki T,Tateishi J 1992 Creutzfeldt-Jakob disease with codon-129 polymorphism (valine). A comparative study of patients with codon-102 point mutation or without mutations. Acta Neuropathol (Berl) 84: 349-354
26. Nicholl D, Windl O, De Silva R, Sawcer S, Dempster M, Ironside JW, Estibeiro JP, Yuill GM, Lathe R, Will RG 1995 Inherited Creutzfeldt-Jakob disease in a British family associated with a novel 144 base pair insertion of the prion protein gene. J Neurol Neurosurg Psychiatry 58: 65-69
27. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T 1989 Detection of polymorphisms of human DNA by gel electrophoresis as single- strand conformation polymorphisms. Proc Natl Acad Sci USA 86: 2766-2770
28. Owen F, Poulter M, Collinge J, Crow TJ 1990 Codon 129 changes in the prion protein gene in Caucasians. Am J Hum Genet 46: 1215-1216
29. Palmer MS, Dryden AJ, Hughes JT, Collinge J 1991 Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature 352: 340-342
30. Poulter M, Baker HF, Frith CD, Leach M, Lofthouse R, Ridley RM, Shah T, Owen F, Collinge J, Brown J et al 1992 Inherited prion disease with 144 base pair gene insertion. 1. Genealogical and molecular studies. Brain 115: 675-686
31. Prusiner SB 1982 Novel proteinaceous infectious particles cause scrapie. Science 216: 136-144
32. Prusiner SB 1993 Genetic and infectious prion diseases. Arch Neurol 50: 1129-1153
33. Salvatore M, Genuardi M, Petraroli R, Masullo C, D'Alessandro M, Pocchiari M 1994 Polymorphisms of the prion protein gene in Italian patients with Creurzfeldt-Jakob disease. Hum Genetics 94: 375-379
34. Will RG, Ironside JW, Zeidler M, Consens SN, 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
35. Windl O, Dempster M, Estibeiro JP, Lathe R, De Silva R, Esmonde T, Will R, Springbett A, Campbell TA, Sidle KCL, Palmer MS, Collinge J 1996 Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: a systematic analysis of predisposing mutations and allelic variations in the PRNP gene. Hum Genetics 98: 259-264