An unusually presenting case of sCJD—The VV1 subtype

Abstract Creutzfeldt–Jakob disease (CJD) is a rapidly progressive neurodegenerative disease caused by prions. Typically CJD presents with a triad of rapidly progressive dementia, abnormal movements (e.g., myoclonus) and electroencephalographic (EEG) changes. Recently, CJD has been subdivided into su...

Full description

Saved in:
Bibliographic Details
Published in:Clinical neurology and neurosurgery 2009-04, Vol.111 (3), p.282-291
Main Authors: Tanev, Kaloyan S, Yilma, Mimi
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Biomarkers
Brain - pathology
Brain - physiopathology
Creutzfeldt-Jakob Syndrome - complications
Creutzfeldt-Jakob Syndrome - diagnosis
Creutzfeldt-Jakob Syndrome - physiopathology
Creutzfeldt–Jakob disease
Dementia
Dementia - diagnosis
Dementia - etiology
Dementia - physiopathology
Diagnosis, Differential
Electroencephalography
Fatal Outcome
Female
Hippocampus - pathology
Hippocampus - physiopathology
Humans
Magnetic Resonance Imaging
Medical sciences
Muscle Spasticity - etiology
Muscle Spasticity - physiopathology
Neuroimaging
Neurology
Neurosurgery
Prion diseases
Prions - genetics
Prions - metabolism
Surgery (general aspects). Transplantations, organ and tissue grafts. Graft diseases
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Abstract Creutzfeldt–Jakob disease (CJD) is a rapidly progressive neurodegenerative disease caused by prions. Typically CJD presents with a triad of rapidly progressive dementia, abnormal movements (e.g., myoclonus) and electroencephalographic (EEG) changes. Recently, CJD has been subdivided into subtypes based on host genetic polymorphisms and the characteristics of the pathological prion protein. Different subtypes likely have different clinical and laboratory presentations. We describe a case of sporadic CJD of the VV1 subtype. We describe our patient's clinical symptoms, time course, laboratory workup, structural and functional neuroimaging data, EEG data and CJD biomarkers. Our patient presented with clinical symptoms atypical for CJD. Because of that, her clinical symptoms were initially attributed to psychiatric reasons. After extensive clinical and laboratory investigation, we concluded that the patient probably had CJD. Postmortem neuropathological results confirmed this clinical hypothesis. We compare our patient's clinical, laboratory and neuroimaging data to the data on typical CJD as well as the data on the few CJD VV1 cases described in the literature. We discuss our case's relevance to the diagnosis of CJD.
ISSN:0303-8467
1872-6968
DOI:10.1016/j.clineuro.2008.09.017