Roche Molecular Biochemicals (1999) Decrease of fluorescent signal in the plateau phase of a LightCycler PCR - hook effect. Springer Verlag, Berlin, Heidelberg, New York, pp 35–41 In: Meuer S, Wittwer C, Nakagawara K (eds) Rapid cycle real-time PCR: methods and applications. Landt 0 (2001) Selection of hybridization probes for real-time quantification and genetic analysis. Springer Verlag, Berlin, Heidelberg, New York, pp 11–19 ![]() Ann Neurol 47: 575–882īernard PS, Reiser A, Pritham GH (2001) Mutation detection by fluorescent hybridization probe melting curves. Will RG, Zeidler M, Stewart GE, Macleod MA, Ironside JW, Cousens SN, Mackenzie J, Estibeiro K, Green AJ, Knight RS (2000) Diagnosis of new variant Creutzfeldt-Jakob disease. Ironside JW, Head MW, Bell JE, McCardle L, Will RG (2000) Laboratory diagnosis of variant Creutzfeldt-Jakob disease. Salvatore M, Genuardi M, Petraroli R, Masullo C, D’Alessandro M, Pocchiari M (1994) Polymorphisms of the prion protein gene in Italian patients with Creutzfeldt-Jakob disease. Neurology 44: 2347–2451ĭeslys JP, Marce D, Dormont D (1994) Similar genetic susceptibility in iatrogenic and sporadic Creutzfeldt-Jakob disease. French Research Group on Epidemiology of Human Spongiform Encephalopathies. Laplanche JL, Delasnerie-Laupretre N, Brandel JP, Chatelain J, Beaudry P, Alperovitch A, Launay JM (1994) Molecular genetics of prion diseases in France. Hauw JJ, Sazdovitch V, Laplanche JL, Peoc’h K, Kopp N, Kemeny J, Privat N, Delasnerie-Laupretre N, Brandel JP, Deslys JP, Dormont D, Alperovitch A (2000) Neuropathologic variants of sporadic Creutzfeldt-Jakob disease and codon 129 of PrP gene. Masullo C, Macchi G (2001) Does PRNP gene control the clinical and pathological phenotype of human spongiform transmissible encephalopathies? Clin Neuropathol 20: 19–25 Parchi P, Giese A, Capellari S, Brown P, Schulz-Schaeffer W, Windl O, Zerr I, Budka H, Kopp N, Piccardo P, Poser S, Rojiani A, Streichemberger N, Julien J, Vital C, Ghetti B, Gambetti P, Kretzschmar H (1999) Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Windt O, Dempster M, Estibeiro JP, Lathe R, de Silva R, Esmonde T, Will R, Springbett A, Campbell TA, Sidle KC, Palmer MS, Collinge J (1996) Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: a systematic analysis of predisposing mutations and allelic variation in the PRNP gene. This process is experimental and the keywords may be updated as the learning algorithm improves. These keywords were added by machine and not by the authors. ![]() Interestingly, all vCJD patients tested were methionine homozygotes at codon 129. Several studies have shown that methionine homozygocity at codon 129 is significantly more frequent in sporadic and iatrogenic CJD compared with the genotype distribution of the Caucasian population and confers an increased risk of developing CJD. In addition, a common methionine/valine polymorphism at codon 129 of the prion protein gene modulates disease susceptibility and phenotypic variability of human prion diseases. The inherited forms are caused by mutations in the human prion protein gene on chromosome 20. Prion diseases are characterized by the accumulation of abnormal prion protein deposits within the brain. Since 1996 a new variant of CJD (vCJD) has been known, which is associated with the bovine spongiform encephalopathy (BSE). Human prion diseases include Creutzfeldt-Jakob disease (CJD), the GerstmannSträussler-Scheinker syndrome, fatal familial insomnia, and kuru.
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