Prion disease with a 144 base pair insertion: Unusual cerebellar prion protein immunoreactivity

Acta Neuropathologica

Volumn 110, Issue 5, 2005, Pages 513-519

  Gelpi, Ellen ^a   Kovacs, Gabor G ^b   Ströbel, Thomas ^a   Koperek, Oskar ^a   Voigtländer, Till ^a   Liberski, Pawel P ^c   Budka, Herbert ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b NATIONAL INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Hungary)

^c MEDICAL UNIVERSITY OF LODZ   (Poland)

Author keywords

144base pair insertion; Basepair gene insertions; Creutzfeldt Jakob disease (CJD); Genetic CJD; PRNP

Indexed keywords

EPITOPE; PRION PROTEIN; PROTEIN ANTIBODY;

AGED; ARTICLE; BASAL GANGLION; BASE PAIRING; CASE REPORT; CREUTZFELDT JAKOB DISEASE; DNA DETERMINATION; ELECTRON MICROSCOPY; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; IMMUNOREACTIVITY; MALE; MOLECULAR GENETICS; OCCIPITAL CORTEX; PHENOTYPE; PRION DISEASE; PRIORITY JOURNAL; SUBICULUM; WESTERN BLOTTING;

AGED; BASE PAIRING; BLOTTING, WESTERN; CEREBRAL CORTEX; CODON; DNA; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MUTATION; PARAHIPPOCAMPAL GYRUS; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PRION DISEASES; PRIONS; PRPSC PROTEINS;

EID: 27944468278     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-005-1073-x     Document Type: Article

References (21)

1. Budka H (2003) Neuropathology of prion diseases. Br Med Bull 66:121-130 10.1093/bmb/66.1.121
2. Capellari S, Vital C, Parchi P, Petersen RB, Ferrer X, Jarnier D, Pegoraro E, Gambetti P, Julien J (1997) Familial prion disease with a novel 144-bp insertion in the prion protein gene in a Basque family. Neurology 49:133-141 9222181
3. Collinge J, Brown J, Hardy J, Mullan M, Rossor MN, Baker H, Crow TJ, Lofthouse R, Poulter M, Ridley R, et al (1992) Inherited prion disease with 144 base pair gene insertion. 2. Clinical and pathological features. Brain 115:687-710 1352725
4. Jarius C, Kovacs GG, Belay G, Hainfellner JA, Mitrova E, Budka H (2003) Distinctive cerebellar immunoreactivity for the prion protein in familial (E200K) Creutzfeldt-Jakob disease. Acta Neuropathol 105:449-454 12677444
5. King A, Doey L, Rossor M, Mead S, Collinge J, Lantos P (2003) Phenotypic variability in the brains of a family with a prion disease characterized by a 144-base pair insertion in the prion protein gene. Neuropathol Appl Neurobiol 29:98-105 10.1046/j.1365-2990.2003.00423.x
6. Kovacs GG, Head MW, Hegyi I, Bunn TJ, Flicker H, Hainfellner JA, McCardle L, Laszlo L, Jarius C, Ironside JW, Budka H (2002) Immunohistochemistry for the prion protein: Comparison of different monoclonal antibodies in human prion disease subtypes. Brain Pathol 12:1-11 11770893
7. Kovacs GG, Trabattoni G, Hainfellner JA, Ironside JW, Knight RS, Budka H (2002) Mutations of the prion protein gene phenotypic spectrum. J Neurol 249:1567-1582 10.1007/s00415-002-0896-9
8. Lewis V, Collins S, Hill AF, Boyd A, McLean CA, Smith M, Masters CL (2003) Novel prion protein insert mutation associated with prolonged neurodegenerative illness. Neurology 60:1620-1624 12771252
9. Liberski PP, Plucienniczak A, Hrabec E, Bogucki A (1989) Ultrastructural studies of scrapie-associated fibrils and prion protein from hamster brains infected with scrapie. Folia Histochem Cytobiol 27:3-9 2500370
10. Liberski PP, Brown P, Xiao SY, Gajdusek DC (1991) The ultrastructural diversity of scrapie-associated fibrils isolated from experimental scrapie and Creutzfeldt-Jakob disease. J Comp Pathol 105:377-386 1770176
11. Nicholl D, Windl O, Silva R de, Sawcer S, Dempster M, Ironside JW, Estibeiro JP, Yuill GM, Lathe R, Will RG (1995) Inherited Creutzfeldt-Jakob disease in a British family associated with a novel 144 base pair insertion of the prion protein gene. J Neurol Neurosurg Psychiatry 58:65-69 7823070
12. Notari S, Capellari S, Giese A, Westner I, Baruzzi A, Ghetti B, Gambetti P, Kretzschmar HA, Parchi P (2004) Effects of different experimental conditions on the PrPSc core generated by protease digestion: implications for strain typing and molecular classification of CJD. J Biol Chem 279:16797-16804 10.1074/jbc.M313220200
13. Oda T, Kitamoto T, Tateishi J, Mitsuhashi T, Iwabuchi K, Haga C, Oguni E, Kato Y, Tominaga I, Yanai K, et al (1995) Prion disease with 144 base pair insertion in a Japanese family line. Acta Neuropathol 90:80-86 7572084
14. Owen F, Poulter M, Shah T, Collinge J, Lofthouse R, Baker H, Ridley R, McVey J, Crow TJ (1990) An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease. Brain Res Mol Brain Res 7:273-276 10.1016/0169-328X(90)90038-F
15. Owen F, Poulter M, Collinge J, Leach M, Shah T, Lofthouse R, Chen YF, Crow TJ, Harding AE, Hardy J, et al (1991) Insertions in the prion protein gene in atypical dementias. Exp Neurol 112:240-242 10.1016/ 0014-4886(91)90075-N
16. Parchi P, Giese A, Capellari S, Brown P, Schulz-Schaeffer W, Windl O, Zerr I, Budka H, Kopp N, Piccardo P, et al (1999) Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol 46:224-233 10.1002/ 1531-8249(199908)46:2<224::AID-ANA12>3.0.CO;2-W
17. Poulter M, Baker HF, Frith CD, Leach M, Lofthouse R, Ridley RM, Shah T, Owen F, Collinge J, Brown J, et al (1992) Inherited prion disease with 144 base pair gene insertion. 1. Genealogical and molecular studies. Brain 115:675-685 1352724
18. Priola SA, Chesebro B (1998) Abnormal properties of prion protein with insertional mutations in different cell types. J Biol Chem 273:11980-11985 10.1074/jbc.273.19.11980
19. Van Gool WA, Hensels GW, Hoogerwaard EM, Wiezer JH, Wesseling P, Bolhuis PA (1995) Hypokinesia and presenile dementia in a Dutch family with a novel insertion in the prion protein gene. Brain 118:1565-1571 8595485
20. Vital C, Gray F, Vital A, Parchi P, Capellari S, Petersen RB, Ferrer X, Jarnier D, Julien J, Gambetti P (1998) Prion encephalopathy with insertion of octapeptide repeats: The number of repeats determines the type of cerebellar deposits. Neuropathol Appl Neurobiol 24:125-130 10.1046/j.1365-2990.1998.00098.x
21. Wadsworth JD, Hill AF, Beck JA, Collinge J (2003) Molecular and clinical classification of human prion disease. Br Med Bull 66:241-254 10.1093/ bmb/66.1.241