A novel PRNP-P105S mutation associated with atypical prion disease and a rare PrPSc conformation

Neurology

Volumn 71, Issue 18, 2008, Pages 1431-1438

  Tunnell, E ^a   Wollman, R ^a   Mallik, S ^a   Cortes, C J ^a   Dearmond, S J ^b   Mastrianni, J A ^a,c  

^a UNIVERSITY OF CHICAGO   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PRION PROTEIN; PROLINE; PROTEINASE K; SERINE; PRNP PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; APHASIA; ARTICLE; BEHAVIOR CHANGE; BRAIN; CEREBELLUM; CODON; DEATH; DEMENTIA; DISEASE ASSOCIATION; ENZYME CONFORMATION; FAMILY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENOTYPE; GROUPS BY AGE; HIPPOCAMPUS; HISTOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; NERVE CELL DEGENERATION; OUTCOME ASSESSMENT; PARKINSONISM; PATHOGENESIS; PHENOTYPE; PRION DISEASE; PRIORITY JOURNAL; PUTAMEN; WESTERN BLOTTING; CHEMISTRY; FAMILY HEALTH; GENETICS; GERSTMANN STRAUSSLER SCHEINKER SYNDROME; MALE; METABOLISM; MIDDLE AGED; MUTATION; PATHOLOGY; PRION; PROTEIN CONFORMATION;

ADULT; AMINO ACID SUBSTITUTION; BRAIN; FAMILY HEALTH; FEMALE; GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; HUMANS; MALE; MIDDLE AGED; MUTATION; PRION DISEASES; PRIONS; PROLINE; PROTEIN CONFORMATION; PRPSC PROTEINS; SERINE;

EID: 58149238090     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000330237.94742.fa     Document Type: Article

References (28)

1. Prusiner SB. Prions (Les Prix Nobel Lecture). In: Frängsmyr T, ed. Les Prix Nobel. Stockholm, Sweden: Almqvist & Wiksell International, 1998:268-323.
2. Mastrianni JA. Prion diseases. GeneReviews at GeneTests: Medical Genetics Information Resource: University of Washington, Seattle, 2003. Available at: http://www. genetests.org.
3. Telling GC, Parchi P, DeArmond SJ et al. Evidence for the conformation of the pathologic isoform of the prion protein enciphering and propagating prion diversity. Science 1996;274:2079-2082.
4. Parchi P, Castellani R, Capellari S, et al. Molecular basis of phenotypic variability in sporadic Creutzfeldt-Jakob disease. Ann Neurol 1996;39:767-778.
5. Mastrianni JA, Nixon R, Layzer R, et al. Prion protein conformation in a patient with sporadic fatal insomnia. N Engl J Med 1999;340:1630-1638.
6. Ghetti B, Tagliavini F, Takao M, et al. Hereditary prion protein amyloidoses. Clin Lab Med 2003;23:65-85, viii.
7. Mastrianni JA, Capellari S, Telling GC, et al. Inherited prion disease caused by the V210I mutation: transmission to transgenic mice. Neurology 2001;57:2198-2205.
8. Norstrom EM, Mastrianni JA. The charge structure of helix 1 in the prion protein regulates conversion to pathogenic PrPSc. J Virol 2006;80:8521-8529.
9. Muramoto T, Kitamoto T, Tateishi J, Goto I. The sequential development of abnormal prion protein accumulation in mice with Creutzfeldt-Jakob disease. Am J Pathol 1992; 140:1411-1420.
10. Kascsak RJ, Rubenstein R, Merz PA, et al. Mouse polyclonal and monoclonal antibody to scrapie-associated fibril proteins. J Virol 1987;61:3688-3693.
11. Folstein M, Folstein S, McHugh PR. "Mini-mental status": a practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975;12:189.
12. Laplanche J-L, Chatelain J, Launay J-M, et al. Deletion in prion protein gene in a Moroccan family. Nucleic Acids Res 1990;18:6745.
13. Cervenáková L, Brown P, Piccardo P, et al. 24-nucleotide deletion in the PRNP gene: analysis of associated phenotypes. In: Court L, Dodet B, eds. Transmissible Subacute Spongiform Encephalopathies: Prion Diseases. Paris: Elsevier, 1996:433-444.
14. Bessen RA, Marsh RF. Distinct PrP properties suggest the molecular basis of strain variation in transmissible mink encephalopathy. J Virol 1994;68:7859-7868.
15. Parchi P, Giese A, Capellari S, et al. Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol 1999;46:224-233.
16. 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.
17. Tagliavini F, Lievens PM, Tranchant C, et al. A 7-kDa prion protein (PrP) fragment, an integral component of the PrP region required for infectivity, is the major amyloid protein in Gerstmann-Straussler-Scheinker disease A117V. J Biol Chem 2001;276:6009-6015.
18. Grasbon-Frodl E, Lorenz H, Mann U, et al. Loss of glycosylation associated with the T183A mutation in human prion disease. Acta Neuropathol (Berl) 2004;108:476-484.
19. Chasseigneaux S, Haik S, Laffont-Proust I, et al. V180I mutation of the prion protein gene associated with atypical PrPSc glycosylation. Neurosci Lett 2006;408:165-169.
20. Lehmann S, Harris DA. A mutant prion protein displays aberrant membrane association when expressed in cultured cells. J Biol Chem 1995;270.
21. Capellari S, Zaidi SI, Long AC, et al. The Thr183Ala mutation, not the loss of the first glycosylation site, alters the physical properties of the prion protein. J Alzheimers Dis 2000;2:27-35.z
22. Yamada M, Itoh Y, Fujigasaki H, et al. A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Sträussler-Scheinker disease. Neurology 1993;43:2723-2724.
23. Kitamoto T, Amano N, Terao Y, et al. A new inherited prion disease (PrP-P105L mutation) showing spastic para-paresis. Ann Neurol 1993;34:808-813.
24. Yamada M, Itoh Y, Inaba A, et al. An inherited prion disease with a PrP P105L mutation: clinicopathologic and PrP heterogeneity. Neurology 1999;53:181-188.
25. Rogaeva E, Zadikoff C, Ponesse J, et al. Childhood onset in familial prion disease with a novel mutation in the PRNP gene. Arch Neurol 2006;63:1016-1021.
26. Kovacs GG, Trabattoni G, Hainfellner JA, et al. Mutations of the prion protein gene phenotypic spectrum. J Neurol 2002;249:1567-1582.
27. Collinge J. Prion diseases of humans and animals: their causes and molecular basis. Annu Rev Neurosci 2001;24:519-550.
28. Zanusso G, Polo A, Farinazzo A, et al. Novel prion protein conformation and glycotype in Creutzfeldt-Jakob disease. Arch Neurol 2007;64:595-599.