Phenotypic variability of Gerstmann-Straussler-Scheinker disease is associated with prion protein heterogeneity

Journal of Neuropathology and Experimental Neurology

Volumn 57, Issue 10, 1998, Pages 979-988

  Piccardo, Pedro ^a   Dlouhy, Stephen R ^a   Lievens, Patricia M J ^b   Young, Katherine ^a   Bird, Thomas D ^c   Nochlin, David ^d   Dickson, Dennis W ^e   Vinters, Harry V ^f   Zimmerman, Thomas R ^g   Mackenzie, Ian R A ^h   Kish, Stephen J ⁱ   Ang, Lee Cyn ^j   De Carli, Charles ^k   Pocchiari, Maurizio ^l   Brown, Paul ^m   Gibbs Jr , Clarence J ^m   Gajdusek, D Carlton ^m   Bugiani, Orso ^b   Ironside, James ⁿ   Tagliavini, Fabrizio ^b   Ghetti, Bernardino ^a,o   more..

^a INDIANA UNIVERSITY   (United States)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c VETERANS AFFAIRS MEDICAL CENTER   (United States)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^e MAYO CLINIC   (United States)

^f UCLA MEDICAL CENTER   (United States)

^g ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^h VANCOUVER GENERAL HOSPITAL   (Canada)

ⁱ CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^j UNIVERSITY OF TORONTO   (Canada)

^k UNIVERSITY OF KANSAS   (United States)

^l ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^m NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

ⁿ WESTERN GENERAL HOSPITAL   (United Kingdom)

^o INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

Gerstmann Straussler Scheinker disease (GSS); Immunoblot; Prion protein (PrP); PrP gene (PRNP)

Indexed keywords

PRION PROTEIN;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; GENETIC HETEROGENEITY; GERSTMANN STRAUSSLER SCHEINKER SYNDROME; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; PHENOTYPE; PRIORITY JOURNAL; PROTEIN POLYMORPHISM;

EID: 0031754291     PISSN: 00223069     EISSN: None     Source Type: Journal    
DOI: 10.1097/00005072-199810000-00010     Document Type: Article

References (47)

1. Gerstmann J, Sträussler E, Scheinker I. Über eine eigenartige hereditär-faimiliäre Erkrankung des Zentralnervensystems. Zugleigh ein Beitrag zur Frage des vorzeitigen lokalen Alterns. Z Ges Neurol Psychiat 1936;154:736-62
2. Masters CL, Gajdusek DC, Gibbs CJ Jr. Creutzfeldt-Jakob disease virus isolations from the Gerstmann-Sträussler-Scheinker syndrome with an analysis of the various forms of amyloid plaque deposition in the virus induced spongiform encephalopathies. Brain 1981;104: 559-88
3. Ghetti B, Piccardo P, Frangione B, et al. Prion protein amyloidosis. Brain Pathol 1996;6:127-45
4. Hsiao K, Baker HF, Crow TJ, et al. Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome. Nature 1989; 338:342-45
5. Doh-ura K, Tateishi J, Sasaki H, Kitamoto T, Sakaki Y. 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;163:974-79
6. Hsiao K, Dlouhy S, Farlow MR, et al. Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles. Nat Genet 1992;1:68-71
7. Kitamoto T, Ohta M, Dohura K, Hitoshi S, Terao Y, Tateishi J. Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome. Biochem Biophys Res Comm 1993;191:709-14
8. Young K, Piccardo P, Kish SJ, Ang LC, Dlouhy S, Ghetti B. Gerstmann-Sträussler-Scheinker disease (GSS) with a mutation at prion protein (PrP) residue 212. J Neuropathol Exp Neurol 1998;57:518
9. Kretzschmar HA, Honold G, Seitelberger F, et al. Prion protein mutation in family first reported by Gerstmann, Sträussler, and Scheinker. Lancet 1991;337:1160
10. Kitamoto T, Amano N, Terao Y, et al. A new inherited prion disease (PrP-P105L Mutation) showing spastic paraparesis. Ann Neurol 1993;34:808-13
11. Hsiao KK, Cass C, Schellenberg GD, et al. A prion protein variant in a family with the telencephalic form of Gerstmann-Sträussler-Scheinker syndrome. Neurology 1991;41:681-84
12. Ghetti B, Tagliavini F, Hsiao K, et al. Indiana variant of Gerstmann-Sträussler-Scheinker disease. In:. Prusiner SB, Collinge J, Powell J, Anderton B, eds. Prion Diseases of Humans and Animals. London: Ellis Horwood, 1992:154-67
13. Ghetti B, Tagliavini F, Giaccone G, et al. Familial Gerstmann-Stäussler-Scheinker disease with neurofibrillary tangles. Mol Neurobiol 1994;8:41-48
14. Barbanti P, Fabbrini G, Salvatore M, et al. Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease (PrP-P102L mutation). Neurology 1996;47:734-41
15. Hainfellner JA, Brantner-Inthaler S, Cervenáková L, et al. The original Gerstmann-Sträussler-Scheinker (GSS) family of Austria: Divergent clinicopathological phenotypes but constant PrP genotype. Brain Pathol 1995;5:201-11
16. Rosenthal NP, Keesey J, Crandall B, Brown J. Familial neurological disease associated with spongiform encephalopathy. Arch Neurol 1976;33:252-59
17. 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;41:375-579
18. 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;45:1127-34
19. Piccardo P, Ghetti B, Dickson DW, et al. Gerstmann-Sträussler-Scheinker disease (PRNP P102L): Amyloid deposits are best recognized by antibodies directed to epitopes in PrP region 90-165. J Neuropathol Exp Neurol 1995;54:790-801
20. Piccardo P, Seiler C, Dlouhy SR, et al. Proteinase-K-resistant prion protein isoforms in Gerstmann-Sträussler-Scheinker disease (Indiana kindred). J Neuropathol Exp Neurol 1996;55:1157-63
21. Farlow MR, Yee RD, Dlouhy SR, Conneally PM, Azzarelli B, Ghetti B. Gerstmann-Sträussler-Scheinker disease. I. Extending the clinical spectrum. Neurology 1989;39:1446-52
22. Ghetti B, Tagliavini F, Dlouhy SR, et al. Clinical, pathological, and molecular characterization of Gerstmann-Sträussler-Scheinker disease in the Indiana kindred (PRNP F198S). In: Morrison DRO, ed. Prions and Brain Diseases in Animals and Humans. New York: Plenum Press. 1998:269-78
23. Ghetti B, Dlouhy SR, Giaccone G, et al. Gerstmann-Sträussler-Scheinker disease and the Indiana kindred. Brain Pathol 1995;5: 61-75
24. Monari L, Chen SG, Brown P, et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: Different prion proteins determinated by a DNA polymorphism. Proc Natl Acad Sci USA 1994; 91:2839-42
25. Watanabe R, Duchen LW. Cerebral amyloid in human prion disease. Neuropathol Applied Neurobiol 1993;19:253-60
26. Adam J, Crow TJ, Duchen LW, Scaravilli F, Spokes E. Familial cerebral amyloidosis and spongiform encephalopathy. J Neurol Neurosurg Psych 1982;545:37-45
27. Brown P, Kenney K, Little B, et al. Intracerebral distribution of infectious amyloid protein in spongiform encephalopathy. Ann Neurol 1995;38:245-53
28. Galatioto S, Ruggeri D, Gullotta F. Sindrome di Gerstmann-Sträussler-Scheinker in un soggetto siciliano. Aspetti neuropatologici. Pathologica 1995;87:659-65
29. Nochlin D, Sumi SM, Bird TD, et al. Familial dementia with PrP-positive amyloid plaques: A variant of Gerstmann-Sträussler-Scheinker syndrome. Neurology 1989;39:910-18
30. Ghetti B, Young K, Piccardo P, et al. Gerstmann-Sträussler-Scheinker disease (GSS) with PRNP A117V mutation: Studies of a new family. Soc Neurosci Abst 1998 (in press).
31. Kascsak RJ. Rubenstein R, Merz PA, et al. Mouse polyclonal and monoclonal antibody to scrapie-associated fibril proteins. J Virol 1987;61:3688-93
32. Shin RW, Iwaki T, Kitamoto T, Tateishi J. Methods in laboratory investigation: Hydrated autoclave pretreatment enhances TAU immunoreactivity in formalin-fixed normal and Alzheimer's disease brain tissues. Lab Invest 1991;64:693-702
33. Rogers M, Serban D, Gyuris T, Scott M, Torchia T, Prusiner SB. Epitope mapping of the Syrian hamster prion protein utilizing chimeric and mutant genes in a vaccinia virus expression system. J Immunol 1991;147:3568-74
34. Bolton DC, Seligman SJ, Bablanian G, et al. Molecular location of a species-specific epitope on the hamster scrapie agent protein. J Virology 1991;65:3667-75
35. Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989;5:874-79
36. Dlouhy SR, Hsiao K, Farlow MR, et al. Linkage of the Indiana kindred of Gerstmann-Sträussler-Scheinker disease to the prion protein gene. Nature Genet 1992;1:64-67
37. Hilmert H, Diringer H. A rapid and efficient method to enrich SAF-protein from scrapie brains of hamsters. Biosci Rep 1984;4:165-70
38. Hope J, Morton LJD, Farquhar CF, Multhaup G, Beyreuther K, Kimberlin RH. The major polypeptide of scrapie-associated fibrils (SAF) has the same size, charge distribution and N-terminal protein sequence as predicted for the normal brain protein (PrP). EMBO 1986;5:2591-97
39. Parchi P, Castellani R, Capellari S, et al. Molecular basis of phenotypic variability in sporadic Creutzfeldt-Jakob disease. Ann Neurol 1996;39:767-78
40. Ghetti B, Piccardo P, Frangione B, et al. Prion protein hereditary amyloidosis: Parenchymal and vascular. Sem Virol 1996;7:189-200
41. Bessen RA, Marsh RF. Biochemical and physical properties of the prion protein from two strains of the transmissible mink encephalopathy agent. J Virol 1992;66:2096-2101
42. Bessen RA, Marsh RF. Distinct PrP properties suggest the molecular basis of strain variation in transmissible mink encephalopathy. J Virol 1994;68:7859-68
43. Collinge J, Sidle KCL, Meads J, et al. Molecular analysis of prion strain variation and the aetiology of 'new variant' CJD. Nature 1996;24:685-90
44. 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;10:513-19
45. 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
46. Tagliavini F, Prelli F, Porro M, et al. Only mutant PrP participates in amyloid formation in Gerstmann-Sträussler-Scheinker disease with Ala > Val substitution at codon 117. J Neuropathol Exp Neurol 1995;54:416
47. Kascsak RJ, Tonna-DeMasi M, Fersko R, et al. The role of antibodies to PrP in the diagnosis of transmissible spongiform encephalopathies. In: Brown F, ed. Transmissible Spongiform Encephalopathies-Impact on Animal and Human Health. Dev Biol Stand, Basel:Krager, 1993;80:141-51