Long survival sporadic Creutzfeldt-Jakob disease

A 63-year-old woman had slowly progressive dementia. EEG displayed periodic sharp wave complexes. MRI showed cortical ribbon pattern in cortex and hyperintensity in basal ganglia (figure, A–H). Genetics testing confirmed homozygosity for methionine at the polymorphic codon 129 of the PRNP gene. At 34 months after disease onset, she was alive and had not reached akinetic mutism. Skin prions were positive by real-time quaking-induced conversion assays (figure, I). This case demonstrates a rare long-survival sporadic Creutzfeldt-Jakob disease case that is contradictory to traditional duration of illness and the utility of minimally invasive skin biopsy testing for antemortem confirmation.1,2