Novel prion protein gene mutation in an octogenarian with Creutzfeldt-Jakob disease

Archives of Neurology

Volumn 57, Issue 7, 2000, Pages 1058-1063

  Collins, Steven ^a   Boyd, Alison ^a   Fletcher, Ashky ^a   Byron, Keith ^b   Harper, Clive ^c   McLean, Catriona A ^a   Masters, Colin L ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b ROYAL MELBOURNE HOSPITAL   (Australia)

^c ROYAL PRINCE ALFRED HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

PRION PROTEIN;

AGED; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CREUTZFELDT JAKOB DISEASE; DEMENTIA; FATAL FAMILIAL INSOMNIA; FEMALE; GENE MUTATION; GERSTMANN STRAUSSLER SCHEINKER SYNDROME; HUMAN; OPEN READING FRAME; PHENOTYPE; PRION DISEASE; PRIORITY JOURNAL;

EID: 0033948987     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.57.7.1058     Document Type: Article

References (47)

1. Goldfarb L, Brown P, McCombie WR, et al. Transmissible familial CreutzfeldtJakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. Proc Natl Acad Sci USA. 1991;88:10926-10930.
2. Hsiao K, Baker H, Crow T, et al. Linkage of a prion protein missense variant to Gerstmann-Straussler syndrome. Nature. 1989;338:342-345.
3. Kitamoto T, Ohta M, Doh-ura K, Hitoshi S, Terao Y, Tateishi J. Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Straussler syndrome. Biochem Biophys Res Commun. 1993;191:709-714.
4. 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-Straussler syndrome. Biochem Biophys Res Commun. 1989;163:974-979.
5. Kitamoto T, lizuka R, Tateishi J. An amber mutation of prion protein in GerstmannSträussler syndrome with mutant PrP plaques. Biochem Biophys Res Commun. 1993;192:525-531.
6. Hsiao K, Dlouhy S, Farlow M, et al. Mutant prion proteins in Gerstmann-StrausslerScheinker disease with neurofibrillary tangles. Nat Genet. 1992;1:68-71.
7. Piccardo P, Young K, William A, et al. Physicochemical properties of prion protein (PrP) in Gerstmann-Strâussler-Scheinker disease (GSS) Q212P [abstract]. Soc Neuroscl Abstr. 1998:24:1476.
8. Goldfarb L, Brown P, Vrbovskâ A, et al. An insert mutation in the chromosome 20 amyloid precursor gene in a Gerstmann-Strâussler-Scheinker family. J Neuro/Sd. 1992;111:189-194.
9. van Gool W, Hensels G, Hoogerwaard E, Wiezer J, Wesseling P, Bolhuis P. Hypokinesia and presenile dementia in a Dutch family with a novel insertion in the prion protein gene. Brain. 1995:118:1565-1571.
10. El Hachimi K, Laplanche J, Destée A, et al. An insert mutation in the PrPgene in aïrench Gerstmann-Strâussler-Scheinker family with psychiatric features [abstract]. Soc Neurosci Abstr. 1998:24:1476.
11. Young K, Clark H, Piccardo P, Dlouhy SR, Ghetti B. Gerstmann-StrâusslerScheinker disease with the P/M/PP102L mutation and valine at codon 129. Mol Brain Res. 1997;44:147-150.
12. Goldfarb L, Haltia M, Brown P, et al. New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred. Lancet. 1991;337: 425.
13. Goldgaber D, Goldfarb L, Brown P, et al. Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Strâussler-Scheinker's syndrome. Exp Neurol. 1989;106:204-206.
14. Mastrianni J, lannicola C, Myers R, DeArmond S, Prusiner S. Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease. Neurology. 1996;47:1305-1312.
15. Pocchiari M, Salvatore M, Cutruzzolâ F, et al. A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease. Ann Neuwl. 1993;34:802-807.
16. Laplanche JL, Delasnerie-Lauprêtre N, Brandel JP, Dussaucy M, Châtelain J, Launay JM. Two novel insertions in the prion protein gene in patients with lateonset dementia. HumMolGenet. 1995;4:1109-1111.
17. Goldfarb L, Brown P, Little BW, et al. A new (too-repeat) octapeptide coding insert mutation in Creutzfeldt-Jakob disease. Neurology. 1993;43:2392-2394.
18. Campbell TA, Palmer MS, Will RG, Gibb WR, Luthert PJ, Collinge J. A prion disease with a novel 96-base pair insertional mutation in the prion protein gene. Neurology. 1996;46:761-766.
19. Owen F, Poulter M, Lofthouse R, et al. Insertion in prion protein gene in familial Creutzfeldt-Jakob disease. Lancet. 1989;1:51-52.
20. Collinge J, Brown J, Hardy J, et al. Inherited prion disease with 144 base pair gene insertion: 2 clinical and pathological features. Brain. 1992;115:687-710.
21. Medori R, Tritschler HJ, LeBlanc A, et al. Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. N Engl J Med. 1992;326:444-449.
22. Chapman J, Arlazoroff A, Goldfarb LG, et al. Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200(lys) mutation. Neurology. 1996;46:758-761.
23. Samaia HB, Mari JJ, Vallada HP, Moura RP, Simpson AJ, Brentani RR. A prionlinked psychiatric disorder [letter]. Nature. 1997;390:241.
24. Nitrini R, Rosemberg S, Passos-Bueno M, et al. Familial spongiform encephalopathy associated with a novel prion protein gene mutation. Ann Neuwl. 1997;42:138-146.
25. Nitsch R, Mann U, Finckh U, et al. A clinical syndrome similar to familial Alzheimer's disease caused by a T183A mutation of the prion protein [abstract], Soc Neurosci Abstr. 1998;24:1476.
26. Owen F, Poulter M, Collinge J, et al. Insertions in the prion protein gene in atypical dementias. Exp Neurol. 1991;112:240-242.
27. Ripoll L, Laplanche JL, Salzmann M, et al. A new point mutation in thé prion protein gene at codon 210 in Creutzfeldt-Jakob disease. Neurology. 1993;43:1934-1938.
28. Windl 0, Dempster M, Estibeiro J, et al. Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: a systematic analysis of predisposing mutations and allelic variation in the PRNPgene. Hum Genet. 1996;98:259-264.
29. Masters CL, Harris JO, Gajdusek DC, Gibbs C, Bernoulli CJ Jr, Asher DM. Creutzfeldt-Jakob disease: patterns of worldwide occurrence and the significance of familial and sporadic clustering. Ann Neurol. 1979:5:177-188.
30. Haritani M, Spencer Y, Wells G. Hydrated autoclave pretreatment enhancement of prion protein immunoreactivity in formalin-fixed bovine spongiform encephalopathy-affected brain. Acta Neuropathol. 1994;87:86-90.
31. Hsich G, Kenney K, Gibbs C, Lee K, Harrington M. The 14-3-3 brain protein in cerebrospinal fluid as a marker for transmissible spongiform encephalopathies. NEnglJMed. 1996;335:924-930.
32. Bortone E, Bettoni L, Giorgi C, Terzano M, Trabattoni G, Mancia D. Reliability of EEG in the diagnosis of Creutzfeldt-Jakob disease. Electroencephalogr Clin Neurophysiol. 1994;90:323-330.
33. Mirra S, Heyman A, McKeel D, et al. The Consortium to Establish a Registry for Alzheimer's Disease (CERAD), part II: standardization of the neuropathologic assessment of Alzheimer's disease. Neurology. 1997;49:552-558.
34. Palmer M, Dryden A, Hughes J, Collinge J. Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature. 1991 ;352:340-342.
35. Furukawa H, Kitamoto T, Tanaka Y, Tateishi J. New variant prion protein in a Japanese family with Gerstmann-Straussler syndrome. Mol Brain Res. 1995:30:385388.
36. Palmer MS, Mahal SP, Campbell TA, et al. Deletions in the prion protein gene are not associated with CJD. Hum Mol Genet. 1993;2:541-544.
37. Ghetti B, Piccardo P, Spillantini MG, et al. Vascular variant of prion protein cerebral amyloidosis with tau-positive neurofibrillary tangles: the phenotype of the stop codon 145 mutation in PRNP. Proc Natl Acad Sci U S A. 1996;93:744-748.
38. Billeter M, Riek R, Wider G, Hornemann S, Glockshuber R, Wüthrich K. Prion protein NMR structure and species barrier for prion diseases. Proc Natl Acad Sci US A. 1997;94:7281-7285.
39. Riek R, Hornemann S, Wider G, Glockshuber R, Wüthrich K. NMR characterization of the full-length recombinant murine prion protein, mPrP(23-231). FEES Lett. 1997;413:282-288.
40. Brown P. The phenotypic expression of different mutations in transmissible human spongiform encephalopathy. Rev Neurol. 1992;148:317-327.
41. Storey E. Dominantly inherited ataxias, part 1. JClin Neurosci. 1998;5:257-264.
42. Zerr I, Bodemer M, Gefeller 0, et al. Detection of 14-3-3 protein in the cerebrospinal fluid supports the diagnosis of Creutzfeldt-Jakob disease. Ann Neurol. 1998;43:32-40.
43. Rosenmann H, Meiner Z, Kahana E, et al. Detection of 14-3-3 protein in the CSF of genetic Creutzfeldt-Jakob disease. Neurology. 1997;49:593-595.
44. Kretzschmar H, Ironside J, DeArmond S, Tateishi J. Diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Arch Neurol. 1996;53:913-920.
45. McLean C, Storey E, Gardner R, Tannenberg A, Cervenakovä L, Brown P. The D178N (cis-129M) "fatal familial insomnia" mutation associated with diverse clinicopathologic phenotypes in an Australian kindred. Neurology. 1997;49:552558.
46. Parchi P, Petersen R, Chen S, et al. Molecular pathology of fatal familial insomnia. Brain Pathol. 1998;8:539-548.
47. Brown P, Gibbs C, 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.