A novel insertional mutation in the prion protein gene: Clinical and bio-molecular findings

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 79, Issue 12, 2008, Pages 1395-1398

  Mauro, C ^a   Giaccone, G ^b   Piscosquito, G ^c   Lavorgna, A ^a   Nigro, M ^c   Di Fede, G ^b   Leonardi, A ^a   Coppola, C ^c   Formisano, S ^a   Tagliavini, F ^b   Cotrufo, R ^c   Puoti, Gianfranco ^c  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c SECOND UNIVERSITY OF NAPLES   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PRION PROTEIN; RECOMBINANT PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BEHAVIOR CHANGE; BRAIN ATROPHY; BRAIN METABOLISM; CASE REPORT; CLINICAL FEATURE; COGNITIVE DEFECT; DEMENTIA; GENE INSERTION; GENETIC POLYMORPHISM; HUMAN; MALE; MOLECULAR CLONING; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NUCLEOTIDE SEQUENCE; PARIETAL LOBE; PERSONALITY DISORDER; PRIORITY JOURNAL; SEQUENCE ANALYSIS; WILD TYPE;

ADULT; BRAIN; CLONING, MOLECULAR; COGNITION DISORDERS; DEMENTIA; FLUORODEOXYGLUCOSE F18; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MODELS, GENETIC; MUTATION; NEURODEGENERATIVE DISEASES; PRIONS; RADIOPHARMACEUTICALS; RECOMBINANT PROTEINS;

EID: 56749091239     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2007.142976     Document Type: Article

References (20)

1. Prusiner SB. Prions. Proc Natl Acad Sci USA 1998;95:133363-83.
2. Young K, Piccardo P, Dlouhy S, et al. The human genetic prion diseases. In: Harris DA, ed. Prions. Molecular and Cellular Biology. Wymondham: Horizon Scientific Press, 1999:139-175.
3. Rossi G, Giaccone G, Giampaolo L, et al. Creutzfeldt-Jakob disease with a novel four extra-repeat insertional mutation in the PrP gene. Neurology 2000;55:405-10.
4. Priola SA, Chesebro B. Abnormal properties of prion protein with insertional mutations in different cell types. J Biol Chem 1998;273:11980-5.
5. Cannella M, Martino T, Simonelli M, et al. De novo seven extra-repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia. J Neurol Neurosurg Psychiatry 2007;78:1411-3
6. Krasemann S, Groschup MH, Harmeyer S, et al. Generation of monoclonal antibodies against human prion proteins in PrPO/O mice. Mol Med 1996;2:725-34.
7. Chomczynski P, Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Annal Biochem 1987;162:156-59.
8. Brown P, Goldfarb LG, McCombie WR, et al. Atypical Creutzfeldt-Jakob disease in an American family with an insert mutation in the PRNP amyloid precursor gene. Neurology 1992;42:422-7.
9. Origin of extra prion repeat unit [on line]. Available at: http://www.mad-cow.org.
10. Oron-Karni V, Filon D, Rund D, et al. A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human alpha2-globin gene. Hum Mol Genet 1997;6:881-5.
11. Goldfarb LG, Brown P, McCombie WR, et al. Transmissible familial Creutzfeldt-Jakob disease associated with five, seven and eight extra octapeptide coding repeats in the PRNP gene. Proc Natl Acad Sci USA 1991;88:10926-30.
12. Lewis V, Collins S, Hill AF, et al. Novel prion protein insert mutation associated with prolonged neurodegenerative illness. Neurology 2003;60:1620-24.
13. Mead S, Poulter M, Beck J, et al. Inherited prion disease with six octapeptide repeat insertional mutation-molecular analysis of phenotypic heterogeneity. Brain 2006;129:2297-317.
14. Lehmann S, Harris DA. Two mutant prion proteins expressed in cultured cells acquire biochemical properties reminiscent of the scrapie isoform. Proc Natl Acad Sci USA 1996;93:5610-14.
15. Gauczynski S, Krasemann S, Bodemer W, et al. Recombinant human prion protein mutants huPrP D178N/M129 (FFI) and huPrP+90R (fCJD) reveal proteinase K resistance. J Cell Sci 2002;115:4025-36.
16. Ghetti B, Tagliavini F, Takao M, et al. Hereditary prion protein amyloidoses. Clin Lab Med 2003;23:65-85.
17. Ivanova L, Barmada S, Kummer T, et al. Mutant prion proteins are partially retained in the endoplasmic reticulum. J Biol Chem 2001;276:42409-21.
18. Dermaut B, Cruts M, Backhovens H, et al. Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion. J Neurol 2000;247:364-8.
19. Tateishi J. Recent advances in the research of Creutzfeldt-Jakob Disease (CJD)J and Gerstmann-Straussler Syndrome (GSS). Rinsho Shinkeigaku 1991;31:1306-8.
20. Will RG, Ironside JW, Zeidler M, et al. A new variant of Creutzfeldt-Jakob disease in the UK. Lancet 1996;347:921-5.