A Chinese Creutzfeldt-Jakob disease patient with E196K mutation in PRNP

Abstract

Genetic Creutzfeldt-Jakob disease (gCJD) is caused by a range of mutations in the prion protein gene (PRNP) and account for approximately 10-15% of overall human prion diseases worldwide. They are different with disease onset, disease duration, clinical signs and diagnostic findings. Here we reported a 71 year-old female with an E196K mutation in one PRNP allele, while the codon 129 was a methionine homozygous genotype. The patient started with non-specific symptoms, but displayed rapidly progressive disturbances of speech, memory, cognitive and physical movement. No periodic activity was recorded at electroencephalography (EEG) during the entire disease course. Retrospective investigation of her family members did not reveal similar neurological disorders. Total clinical course was about seven months.

Figure 1

Graphic presentation of the sequencing analysis of PRNP. The presence of mutation is confirmed by direct sequencing of PRNP after PCR amplification. It shows a G to A heterozygous transition at codon 196 in one PRNP allele, leading to an exchange from Glu (E) to Lys (K). The arrow above the curves indicates the position where both G and A are present. The sequences of nucleotides and the encoding amino acids are illustrated at the bottom of graph.