Gerstmann-Straussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129

Molecular Brain Research

Volumn 44, Issue 1, 1997, Pages 147-150

  Young, Katherine ^a   Clark, H Brent ^b   Piccardo, Pedro ^a   Dlouhy, Stephen R ^a   Ghetti, Bernardino ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

Author keywords

Amyloid; Gerstmann Straussler Scheinker; Prion protein; PRNP mutation; Spinal cord

Indexed keywords

METHIONINE; PRION PROTEIN; VALINE;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CODON; GENE MUTATION; GENE SEQUENCE; GERSTMANN STRAUSSLER SCHEINKER SYNDROME; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL; GENETICS; MUTATION; POLYMERASE CHAIN REACTION; PRION;

ADULT; GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION; PRIONS; VALINE;

EID: 0031026861     PISSN: 0169328X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0169-328X(96)00251-3     Document Type: Article

References (23)

1. Barbanti, P., Fabbrini, G., Salvatore, M., Buzzi, M., Petraroli, R., Sbriccoli, A., Pocchiari, M., Macchi, G. and Lenzi, G., Rapidly progressive Gerstmann-Sträussler-Scheinker syndrome (GSS) with codon 102 mutation of the prion protein gene (PRNP) in a large Italian kindred, Clin. Neuropathol., 13 (1994) 143.
2. Barker, D., Schafer, M. and White, R., Restriction sites containing CpG show a higher frequency of polymorphism in human DNA, Cell, 36 (1984) 131-138.
3. Farlow, M.R., Tagliavini, F., Bugiani, O. and Ghetti, B., Gerstmann-Sträussler-Scheinker disease. In J.M.B.V. De Jong (Ed.), Handbook of Clinical Neurology. Vol. 16. Hereditary Neuropathies and Spinocerebellar Atrophies, Elsevier Science, Amsterdam, 1991, pp. 619-633.
4. Furukawa, H., Kitamoto, T., Tanaka, Y. and Tateishi, J., New variant prion protein in a Japanese family with Gerstmann-Sträussler-Scheinker syndrome, Mol. Brain Res., 30 (1995) 385-388.
5. Gasset, M., Baldwin, M.A., Fletterick, R. and Prusiner, S., Perturbation of the secondary structure of the scrapie prion protein under conditions associated with changes in infectivity, Proc. Natl. Acad. Sci. USA, 90 (1993) 1-5.
6. Ghetti, B., Dlouhy, S.R., Giaccone, G., Bugiani, O., Frangione, B., Farlow, M.R. and Tagliavini, F., Gerstmann-Sträussler-Scheinker disease and the Indiana kindred, Brain Pathol., 5 (1995) 61-75.
7. Ghetti, B., Piccardo, P., Frangione, B., Bugiani, O., Giaccone, G., Young, K., Prelli, F., Farlow, M.R., Dlouhy, S.R. and Tagliavini, F., Prion protein amyloidosis, Brain Pathol., 6 (1996) 127-145.
8. Glenner, G.G., Eanes, E.D., Bladen, H.A., Linke, R.P. and Termine, J.D., β-Pleated sheet fibrils. A comparison of native amyloid with synthetic protein fibrils, J. Histochem. Cytochem., 22 (1974) 1141-1158.
9. Goldfarb, L., Petersen, R., Tabaton, M., Brown, P., LeBlanc, A., Montagna, P., Cortelli, P., Julien, J., Vital, C., Pendelbury, W., Haltia, M., Wills, P., Hauw, J., McKeever, P., Monari, L., Schrank, B., Swergold, G., Autilio-Gambetti, L., Gadjusek, D.C., Lugaresi, E. and Gambetti, P., Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism, Science, 258 (1992) 806-808.
10. Goldfarb, L.G., Brown, P., Haltia, M., Ghiso, J., Frangione, B. and Gajdusek, D.C., Synthetic peptides corresponding to different mutated regions of the amyloid gene in familial Creutzfeldt-Jakob disease show enhanced in vitro formation of morphologically different amyloid fibrils, Proc. Natl. Acad. Sci. USA, 90 (1993) 4451-4454.
11. Huang, Z., Gabriel, J.-M., Baldwin, M., Fletterick, R., Prusiner, S.B. and Cohen, F., Proposed three-dimensional structure for the cellular prion protein, Proc. Natl. Acad. Sci. USA, 91 (1994) 7139-7143.
12. Kascsak, R.J., Rubenstein, R., Merz, P.A., Tonna-DeMasi, M., Fersko, R., Carp, R.I., Wisniewski, H.M. and Diringer, H., Mouse polyclonal and monoclonal antibody to scrapie-associated fibril proteins, J. Virol., 61 (1987) 3688-3693.
13. Kitamoto, T., Amano, N., Terao, Y., Nakazato, Y., Isshiki, T., Mizutani, T. and Tateishi, J., A new inherited prion disease (PrP-P105L mutation) showing spastic paraparesis, Ann. Neurol., 34 (1993) 808-813.
14. Kitamoto, T. and Tateishi, J., Human prion diseases with variant prion protein, Phil. Trans. Roy. Soc. Lond. B, 343 (1994) 391-398.
15. Kretzschmar, H., Kufer, P., Reithmüller, G., De Armond, S., Prusiner, S.B. and Schiffer, D., Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome, Neurology, 42 (1992) 809-810.
16. Owen, F., Poulter, M., Collinge, J. and Crow, T.J., Codon 129 changes in the prion protein gene in Caucasians, Am. J. Hum. Genet., 46 (1990) 1215-1216.
17. Pan, K.-M., Baldwin, M., Nguyen, J., Gasset, M., Serban, A., Groth, D., Mehlhorn, J., Huang, Z., Fletterick, R., Cohen, F.E. and Prusiner, S.B., Conversion of α-helices into β-sheets features in the formation of the scrapie prion proteins, Proc. Natl. Acad. Sci. USA, 90 (1993) 10962-10966.
18. Petraroli, R. and Pocchiari, M., Codon 219 polymorphism of PRNP in healthy Caucasians and Creutzfeldt-Jakob disease patients, Am. J. Hum. Genet., 58 (1996) 888-889.
19. Piccardo, P., Ghetti, B., Dickson, D.W., Vinters, H.V., Giaccone, G., Bugiani, O., Tagliavini, F., Young, K., Dlouhy, S.R., Seiler, C., Jones, C.K., Lazzarini, A., Golbe, L.I., Zimmerman, T.R., Perlman, S.L., McLachlan, D.C., St. George-Hyslop, P.H. and Lennox, A., 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., 54 (1995) 790-801.
20. Safar, J., Roller, R., Gajdusek, D.C. and Gibbs Jr., C.J., Conformational transitions, dissociation and unfolding of scrapie amyloid (prion) protein, J. Biol. Chem., 268 (1993) 20276-20284.
21. Tateishi, J., Transmission of human prion diseases to rodents, Virology, 1 (1996) 175-180.
22. Valverde, P., Healy, E., Jackson, I., Rees, J.L. and Thody, A.J., Variants of the melanocyte stimulating hormone receptor gene are associated with red hair and fair skin in humans, Nature Genet., 11 (1995) 328.
23. Young, K., Jones, C.K., Piccardo, P., Lazzarini, M.S., Golbe, L.I., Zimmerman, T.R., Dickson, D.W., McLachlan, D.C., St. George-Hyslop, P., Lennox, A., Perlman, S., Vinters, H.V., Hodes, M.E., Dlouhy, S. and Ghetti, B., Gerstmann-Sträussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients, Neurology, 45 (1995) 1127-1134.