Creutzfeldt-Jakob disease mutations

Bovine spongiform encephalopathy (BSE or mad cow disease) is a progressive neurological degenerative disease in cattle. It is caused by a mutated protein called a prion. BSE was first reported in the United Kingdom in 1986. Creutzfeldt-Jakob disease (CJD) is a rare disease that occurs in humans. Evidence to date indicates it is possible for humans to acquire CJD after consuming BSE-contaminated cattle products. 

Peoc h K, Manivet P, Beaudry P, Attane F, Besson G, Hannequin D, Delasnerie-Laupretre N, Laplanche J-L (2000) Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene PRNP in inherited prion diseases with Creutzfeldt-Jakob disease phenotype. Hum Mutat 15 482... 

Ripoll L, Laplanche JL, Salzmann M, Jouvet A, Planques B, Dussaucy M, Chatelain J, Beaudry P, Launay JM (1993) A new point mutation in the prion protein gene at codon 210 in Creutzfeldt-Jakob disease. Neurology 43 1934... 

Mastrianni JA, lannicola C, Myers RM, DeArmond S, Prusiner SB. Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease. Neurology. 1996 47(5) 1305-1312. 

Pocchiari M, Salvatore M, Cutruzzola F, et al. A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease. Ann Neurol. 1993 34(6) 802-807. 

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