A patient with a heterozygous variant of Creutzfeldt-Jakob disease (CJD) with a methionine/valine genotype at codon 129 of the prion protein gene was recently reported. Using an ultrasensitive and specific protein misfolding cyclic amplification-based assay for detecting variant CJD prions in cerebrospinal fluid, we discriminated this heterozygous case of variant CJD from cases of sporadic CJD.
Keywords: CJD; CSF; Creutzfeldt-Jakob disease; PMCA; cerebrospinal fluid; diagnosis; gCJD; genetic Creutzfeldt-Jakob disease; methionine/valine variant; prions and related diseases; protein misfolding cyclic amplification; sCJD; sporadic Creutzfeldt-Jakob disease; vCJD; variant Creutzfeldt-Jakob disease.