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Neurogenetics
Published in: neurogenetics 4/2004

01-12-2004 | Letter to the Editors

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

Authors: E. Grasbon-Frodl, R. Schmalzbauer, P. Weber, B. Krebs, O. Windl, I. Zerr, H. A. Kretzschmar

Published in: Neurogenetics | Issue 4/2004

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Excerpt

Sirs, …
Literature
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 88:10926–10930PubMed
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 279:16797–16804CrossRefPubMed
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 75:1166–1170CrossRefPubMed
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 61:1288–1291PubMed
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 55:405–410PubMed
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)
Metadata
Title
A novel three extra-repeat insertion in the prion protein gene (PRNP) in a patient with Creutzfeldt-Jakob disease
Authors
E. Grasbon-Frodl
R. Schmalzbauer
P. Weber
B. Krebs
O. Windl
I. Zerr
H. A. Kretzschmar
Publication date
01-12-2004
Publisher
Springer-Verlag
Published in
Neurogenetics / Issue 4/2004
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI
https://doi.org/10.1007/s10048-004-0196-x

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