Published online Sep 6, 2023. doi: 10.12998/wjcc.v11.i25.5982
Peer-review started: May 26, 2023
First decision: July 17, 2023
Revised: July 25, 2023
Accepted: August 9, 2023
Article in press: August 9, 2023
Published online: September 6, 2023
Processing time: 97 Days and 20.1 Hours
Prion diseases are a group of degenerative nerve diseases that are caused by infectious prion proteins or gene mutations. In humans, prion diseases result from mutations in the prion protein gene (PRNP). Only a limited number of cases involving a specific PRNP mutation at codon 196 (E196A) have been reported. The coexistence of Korsakoff syndrome in patients with Creutzfeldt-Jakob disease (CJD) caused by E196A mutation has not been documented in the existing literature.
A 61-year-old Chinese man initially presented with Korsakoff syndrome, followed by rapid-onset dementia, visual hallucinations, akinetic mutism, myoclonus, and hyperthermia. The patient had no significant personal or familial medical history. Magnetic resonance imaging of the brain revealed extensive hyperintense signals in the cortex, while positron emission tomography/computed tomography showed a diffuse reduction in cerebral cortex metabolism. Routine biochemical and microorganism testing of the cerebrospinal fluid (CSF) yielded normal results. Tests for thyroid function, human immunodeficiency virus, syphilis, vitamin B1 and B12 levels, and autoimmune rheumatic disorders were normal. Blood and CSF tests for autoimmune encephalitis and autoantibody-associated paraneoplastic syndrome yielded negative results. A test for 14-3-3 protein in the CSF yielded negative results. Whole-genome sequencing revealed a disease-causing mutation in PRNP. The patient succumbed to the illness 11 months after the initial symptom onset.
Korsakoff syndrome, typically associated with alcohol intoxication, also manifests in CJD patients. Individuals with CJD along with PRNP E196A mutation may present with Korsakoff syndrome.
Core Tip: The present case report describes a rare mutation in the prion protein gene at codon 196 causing Creutzfeldt-Jakob disease (CJD) with a clinical presentation of Korsakoff syndrome. This study emphasizes the importance of considering this mutation in CJD patients presenting with Korsakoff syndrome based on clinical, laboratory, and imaging findings.