Early sensory disturbances and seizures are common manifestations of familial Creutzfeldt-Jakob disease due to E200K PRNP mutation: Case report from two Peruvian families

Abstract

Highlights: E200K-PRNP mutation is the most common cause of fCJD. The typical presentation includes rapidly progressive dementia, myoclonus, cerebellar manifestations, and other motor signs. Early sensory disturbances and seizures are infrequent symptoms. We described 4(out of 5) cases of fCJD manifesting ESD and seizures as dominant clinical features. The present findings further underline the clinical variability of fCJD