Subject(s)
Brain/diagnostic imaging , Brain/pathology , Creutzfeldt-Jakob Syndrome/diagnostic imaging , Creutzfeldt-Jakob Syndrome/pathology , Fluorodeoxyglucose F18 , Positron-Emission Tomography/methods , Prions/genetics , Radiopharmaceuticals , 14-3-3 Proteins/cerebrospinal fluid , Akinetic Mutism/diagnostic imaging , Akinetic Mutism/genetics , Akinetic Mutism/pathology , Brain/metabolism , Codon/genetics , Creutzfeldt-Jakob Syndrome/genetics , DNA Mutational Analysis , Dementia/diagnostic imaging , Dementia/genetics , Dementia/pathology , Disease Progression , Electroencephalography , Fatal Outcome , Female , Genetic Predisposition to Disease/genetics , Heterozygote , Humans , Magnetic Resonance Imaging , Middle Aged , Mutation, Missense/genetics , Neuropsychological Tests , Polymorphism, Genetic/genetics , RadiographyABSTRACT
We report a 66-year-old woman with histologically diagnosed Creutzfeldt-Jacob disease (CJD), followed with MRI from an early clinical stage. MRI demonstrated expansion of the high cortical signal on T2-weighted images, which differs from previous MRI reports of CJD. This patient followed an atypical clinical course: 16 months had passed before she developed akinetic mutism, and periodic sharp waves had not been detected on EEG after 2 years in spite of her akinetic mutism. Brain biopsy showed primary spongiform changes in the grey matter, and a point mutation of the prion protein gene at codon 180 was discovered using polymerase chain reaction direct sequencing and Tth 111 I cutting. This is the first case with the point mutation of the codon 180 variant with an atypical clinical course and characteristic MRI findings.
