Universidad Peruana Cayetano Heredia

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

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

Sarapura-Castro, Elison; Cosentino, Carlos; Landman, Jonathan; Landman, Avi; Torres, Luis; Nuñez, Yesenia; Capellari, Sabina; Parchi, Piero; Cornejo-Olivas, Mario
URI: https://hdl.handle.net/20.500.12866/9363
Fecha: 2021

Resumen:

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

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