Abstract
We report a patient with genetic Creutzfeldt-Jakob disease showing the rare R208H mutation in the prion protein gene. Case description: Over a few months, a 62-year-old woman progressively developed frontal-type dementia with reduced verbal fluency, perseverative behavior, stereotypies and apathy, together with increasing akinesia, rigidity, and marked oculomotor abnormalities suggesting progressive supranuclear palsy.
Cerebellar symptoms, myoclonus and generalized triphasic EEG patterns appeared only one year after the first complaints. Cerebrospinal fluid analysis revealed positive 14-3-3 protein and highly increased total tau level.
Results: Neuropathological and immunohistochemical post-mortem examination confirmed the definite diagnosis of Creutzfeldt-Jakob disease. Genetic analysis demonstrated R208H mutation with valine homozygosity at codon 129 of prion protein gene.
Conclusion: On one hand our observation widens the spectrum of clinical presentations of genetic prion diseases, and on the other hand supports the notion that a progressive supranuclear palsy-like clinical presentation can be associated with various neurodegenerative disorders.