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

•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...

Full description

Saved in:
Bibliographic Details
Published in:Clinical neurology and neurosurgery 2021-03, Vol.202, p.106490-106490, Article 106490
Main Authors: Sarapura-Castro, Elison, Cosentino, Carlos, Landman, Jonathan, Landman, Avi, Torres, Luis, Nuñez, Yesenia, Capellari, Sabina, Parchi, Piero, Cornejo-Olivas, Mario
Format: Article
Language:English
Subjects:
Ataxia
Autopsy
Brain research
Case reports
Convulsions & seizures
Creutzfeldt-Jakob disease
Creutzfeldt-Jakob Syndrome - genetics
Creutzfeldt-Jakob Syndrome - physiopathology
Dementia
Dementia disorders
Diffusion Magnetic Resonance Imaging
Dysarthria
Electroencephalography
Electromyography
Female
Gait
Genetics
Hereditary diseases
Humans
Insomnia
Magnetic Resonance Imaging
Male
Memory
Metabolism
Middle Aged
Mutation
Myoclonus
Neurology
Paresthesia - genetics
Paresthesia - physiopathology
Pedigree
Peru
Posture
Prion protein
Prion Proteins - genetics
Proteins
Seizure
Seizures
Sensory disturbance
Short term memory
Sleep and wakefulness
Spasticity
Transmissible spongiform encephalopathy
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:•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.
ISSN:0303-8467
1872-6968
DOI:10.1016/j.clineuro.2021.106490