Background: Creutzfeldt-Jakob disease is a rare neurodegenerative disorder with a worldwide incidence of 1.5 per million inhabitants. About 10-15% of all cases of Creutzfeldt-Jakob disease are of genetic origin and display a large variety in clinical presentation (regarding disease duration, age at onset, and others). The goal of this report was to describe the clinical features and diagnostic tests in a patient with a novel prion protein gene (PRNP) D202G mutation.
Case report: A 71-year-old patient had all the clinical signs of Creutzfeldt-Jakob disease (CJD) but an extremely prolonged disease duration of 16 years. The 14-3-3 protein test was positive, while MRI and EEG did not show CJD typical changes. Family history was positive for cerebellar and dementia disorders without definite diagnoses. Full-length sequencing of the prion protein gene (PRNP) showed a new D202G mutation associated with valine on codon 129 of unknown significance. Methionine/valine heterozygosity at codon 129 was found.
Conclusions: These findings highlight the value of 14-3-3 and gene analysis in unclear neurological disorders to detect possibly atypical presentations of prion disorders. The significance of this new mutation will remain unclear until further such patients are reported.