Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Straussler- Scheinker disease (PrP-P102L mutation)

Neurology

Volumn 47, Issue 3, 1996, Pages 734-741

  Barbanti, P ^a   Fabbrini, G ^a   Salvatore, M ^b   Petraroli, R ^b   Cardone, F ^b   Maras, B ^a   Equestre, M ^b   Macchi, G ^c   Lenzi, G L ^a   Pocchiari, M ^b  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^c CATHOLIC UNIVERSITY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ATAXIA; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; DEGENERATIVE DISEASE; DEMENTIA; FAMILY HISTORY; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; ITALY; PRION; PRIORITY JOURNAL; SLOW VIRUS DISEASE;

EID: 9544219691     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.47.3.734     Document Type: Article

References (51)

1. Pocchiari M. Prions and related neurological diseases. Mol Aspects Med 1994;15:195-291.
2. Brown P, Gibbs CJ Jr, Rodgers-Johnson P, et al. Human spongiform encephalopathy: the National Institutes of Health series of 300 cases of experimentally transmitted disease. Ann Neurol 1994;35:513-529.
3. Tateishi J, Brown P, Kitamoto T, et al. First experimental transmission of fatal familial insomnia. Nature 1995;376:434-435.
4. Collinge J, Palmer MS, Sidle KCL, et al. Transmission of fatal familial insomnia to laboratory animals. Lancet 1995;346: 569-570.
5. Masters CL, Gajdusek DC, Gibbs CJ Jr. Creutzfeldt-Jakob disease virus isolations from the Gerstmann-Sträussler syndrome with an analysis of the various forms of amyloid plaque deposition in the virus-induced spongiform encephalopathies. Brain 1981;104:559-588.
6. Tagliavini F, Prelli F, Ghiso J, et al. Amyloid protein of Gerstmann-Sträussler-Scheinker disease (Indiana kindred) is an 11 kd fragment of prion protein with an N-terminal glycine at codon 58. EMBO J 1991;10:513-519.
7. Pan KM, Baldwin M, Nguyen J, et al. Conversion of a-helices into β-sheets features in the formation of the scrapie prion proteins. Proc Natl Acad Sci USA 1993;90:10962-10966.
8. Hsiao K, Baker HF, Crow TJ, et al. Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome. Nature 1989;338:342-345.
9. Gabizon R, Rosenmann H, Meiner Z, et al. Mutation and polymorphism of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease (CJD). Am J Hum Genet 1993;53: 828-835.
10. Dlouhy SR, Hsiao K, Farlow MR, et al. Linkage of the Indiana kindred of Gerstmann-Sträussler-Scheinker disease to the prion protein gene. Nat Genet 1992;1:64-67.
11. Poulter M, Baker HF, Frith CD, et al. Inherited prion disease with 144 base pair gene insertion. 1. Genealogical and molecular studies. Brain 1992;115:675-685.
12. Gerstmann J, Sträussler E, Scheinker I. Über eine eigenartige hereditär-familiäre erkrankung des zentralnervensystems zugleich ein beitrag zur frage des vorzeitigen lokalen alterns. Z Neurol 1936;154:736-762.
13. Kretzschmar HA, Honold G, Seitelberger F, et al. Prion protein mutation first reported by Gerstmann, Sträussler, and Scheinker. Lancet 1991;337:1160.
14. Young K, Jones CK, Piccardo P, et al. Gerstmann-Sträussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients. Neurology 1995;45:1127-1134.
15. Doh-ura K, Tateishi J, Sasaki H, et al. Pro-leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Sträussler syndrome. Biochem Biophys Res Commun 1989;163:974-979.
16. Furukawa H, Kitamoto T, Tanaka Y, Tateishi J. New variant prion protein in a Japanese family with Gerstmann-Sträussler syndrome. Mol Brain Res 1995;30:385-388.
17. Goldgaber D, Goldfarb LG, Brown P, et al. Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker's syndrome. Exp Neurol 1989;106:204-206.
18. Kretzschmar HA, Kufer P, Riethmuller G, et al. Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome. Neurology 1992;42:809-810.
19. Goldhammer Y, Gabizon R, Meiner Z, Sadeh M. An Israeli family with Gerstmann-Sträussler-Schcinker disease manifesting the codon 102 mutation in the prion protein gene. Neurology 1993;43:2718-2719.
20. Laplanche JL, Delasnerie-Laupretre N, Brandel JP, et al. Molecular genetics of prion diseases in France. Neurology 1994; 44:2347-2351.
21. Goldfarb LG, Brown P. The transmissible spongiform encephalopathies. Annu Rev Med 1995;46:57-65.
22. Prusiner SB, DeArmond SJ. Prion diseases and neurodegeneration. Annu Rev Neurosci 1994;17:311-339.
23. Goldfarb LG, Petersen RB, Tabaton M, et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science 1992; 258:806-808.
24. Pocchiari M, Salvatore M, Cutruzzolà F, et al. A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease. Ann Neurol 1993;34:802-807.
25. Hainfellner JA, Brantner-Inthaler S, Cervenáková L, et al. The original Gerstmann-Sträussler-Scheinker family of Austria: divergent clinicopathological phenotypes but constant PrP genotype. Brain Pathol 1995;5:201-211.
26. Tateishi J, Kitamoto T, Doh-ura K, et al. Immunochemical, molecular genetic, and transmission studies on a case of Gerstmann-Sträussler-Scheinker syndrome. Neurology 1990;40: 1578-1581.
27. Tranchant C, Doh-ura K, Warter JM, et al. Gerstmann-Sträussler-Scheinker disease in an Alsatian family: clinical and genetic studies. J Neurol Neurosurg Psychiatry 1992;55: 185-187.
28. Mastrianni JA, Curtis MT, Oberholtzer JC, et al. Prion disease (PrP-A117V) presenting with ataxia instead of dementia. Neurology 1995;45:2042-2050.
29. Kitamoto T, Amano N, Terao Y, et al. A new inherited prion disease (PrP-P105L mutation) showing spastic paraparesis. Ann Neurol 1993;34:808-813.
30. Hsiao K, Dlouhy SR, Farlow MR, et al. Mutant prion protein in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles. Nat Genet 1992;1:68-71.
31. Rosenthal NP, Keesey J, Crandall B, Brown WJ. Familial neurological disease associated with spongiform encephalopathy. Arch Neurol 1976;33:252-259.
32. Brown P, Goldfarb LG, Brown WT, et al. Clinical and molecular genetic study of a large German kindred with Gerstmann-Sträussler-Scheinker syndrome. Neurology 1991;41:375-379.
33. Brown P. The phenotypic expression of different mutations in transmissible human spongiform encephalopathy. Rev Neurol (Paris) 1992;148:317-327.
34. Goldfarb LG, Brown P, Vrbovská A, et al. An insert mutation in the chromosome 20 amyloid precursor gene in a Gerstmann-Sträussler-Scheinker family. J Neurol Sci 1992;111: 189-194.
35. Miyazono M, Kitamoto T, Iwaki T, Tateishi J. Colocalization of prion protein and β protein in the same amyloid plaques in patients with Gerstmann-Sträussler syndrome. Acta Neuropathol (Berl) 1992;83:333-339.
36. Watanabe R, Duchen LW. Cerebral amyloid in human prion disease. Neuropathol Appl Neurobiol 1993;19:253-260.
37. Prusiner SB. Genetic and infectious prion diseases. Arch Neurol 1993;50:1129-1153.
38. Salvatore M, Genuardi M, Petraroli R, et al. Polymorphisms of the prion protein gene in Italian patients with Creutzfeldt-Jakob disease. Hum Genet 1994;94:375-379.
39. Petraroli R, Pocchiari M. Codon 219 polymorphism of PRNP in healthy Caucasians and Creutzfeldt-Jakob disease patients. Am J Hum Genet 1996;58:888-889.
40. Crook R, Hardy J, Duff K. Single-day apolipoprotein E genotyping. J Neurosci Methods 1994;53:125-127.
41. Xi YG, Cardone F, Pocchiari M. Detection of proteinase-resistant protein (PrP) in small brain tissue samples from Creutzfeldt-Jakob disease patients. J Neurol Sci 1994;124: 171-173.
42. Kitamoto T, Ogomori K, Tateishi J, Prusiner SB. Formic acid pretreatment enhances immunostaining of cerebral and systemic amyloids. Lab Invest 1987;57:230-236.
43. Kitamoto T, Yamaguchi K, Doh-ura K, Tateishi J. A prion protein missense variant is integrated in kuru plaque cores in patients with Gerstmann-Sträussler syndrome. Neurology 1991;41:306-310.
44. Brown P, Kenney K, Little B, et al. Intracerebral distribution of infectious amyloid protein in spongiform encephalopathy. Ann Neurol 1995;38:245-253.
45. Kretzschmar HA, Stowring LE, Westaway D, et al. Molecular cloning of a human prion protein cDNA. DNA 1986;5:315-324.
46. Barker D, Schafer M, White R. Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell 1984;36:131-138.
47. Telling GC, Scott M, Mastrianni J, et al. Prion propagation in mice expressing human and chimeric PrP transgenes implicates the interaction of cellular PrP with another protein. Cell 1995;83:79-90.
48. Tagliavini F, Prelli F, Porro M, et al. Amyloid fibrils in Gerstmann-Sträussler-Scheinker disease (Indiana and Swedish kindreds) express only PrP peptides encoded by the mutant allele. Cell 1994;79:695-703.
49. Amouyel P, Vidai O, Launay JM, Laplanche JL. The apolipoprotein E alleles as major susceptibility factors for Creutzfeldt-Jakob disease. Lancet 1994;344:1315-1318.
50. Saunders AM, Schmader K, Breitner JCS, et al. Apolipoprotein E epsilon 4 allele distributions in late-onset Alzheimer's disease and in other amyloid-forming diseases. Lancet 1993; 342:710-711.
51. Salvatore M, Seeber AC, Nacmias B, et al. Apolipoprotein E in sporadic and familial Creutzfeldt-Jakob disease. Neurosci Lett 1995;199:95-98.