A novel three extra-repeat insertion in the prion protein gene (PRNP) in a patient with Creutzfeldt-Jakob disease [1]

Neurogenetics

Volumn 5, Issue 4, 2004, Pages 249-250

  Grasbon Frodl, E ^a   Schmalzbauer, R ^a   Weber, P ^a   Krebs, B ^a   Windl, O ^a,c   Zerr, I ^b   Kretzschmar, H A ^a  

^a UNIVERSITY OF MUNICH   (Germany)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

^c VETERINARY LABORATORIES AGENCY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT;

AUTOPSY; BRAIN BIOPSY; CREUTZFELDT JAKOB DISEASE; HETEROZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; LETTER; MICROSCOPY; NEUROPATHOLOGY; PHENOTYPE; PRION DISEASE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

AGED; AMYLOID; CREUTZFELDT-JAKOB SYNDROME; FATAL OUTCOME; HUMANS; MALE; PRIONS; PROTEIN PRECURSORS; REPETITIVE SEQUENCES, NUCLEIC ACID;

INSERTION SEQUENCES;

EID: 12944326875     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-004-0196-x     Document Type: Letter

References (6)

1. Goldfarb LG, Brown P, McCombie WR, Goldgaber D, Swergold GD, Wills PR, Cervenakova L, Baron H, Gibbs CJ, Gajdusek DC (1991) Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. Proc Natl Acad Sci U S A 88:10926-10930
2. 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
3. Croes EA, Theuns J, Houwing-Duistermaat JJ, Dermaut B, Sleegers K, Roks G, Van den Broeck M, Harten B van, Swieten JC van, Cruts M, Van Broeckhoven C, Duijn CM van (2004) Octapeptide repeat insertions in the prion protein gene and early onset dementia. J Neurol Neurosurg Psychiatry 75:1166-1170
4. Pietrini V, Puoti G, Limido L, Rossi G, Di Fede G, Giaccone G, Mangieri M, Tedeschi F, Bondavalli A, Mancia D, Bugiani O, Tagliavini F (2003) Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene. Neurology 61:1288-1291
5. Rossi G, Giaccone G, Giampaolo L, Iussich S, Puoti G, Frigo M, Cavaletti G, Frattola L, Bugiani O, Tagliavini F (2000) Creutzfeldt-Jakob disease with a novel four extra-repeat insertional mutation in the PrP gene. Neurology 55:405-410
6. Yu SL, Jin L, Sy MS, Fang-Hua M, Kang SL, Sun GH, Tien P, Wang FS, Xiao GF (2004) Polymorphisms of the PRNP gene in Chinese populations and the identification of a novel insertion mutation. Eur J Hum Genet (Epub ahead of print)