Serial MRI in early Creutzfeldt-Jacob disease with a point mutation of prion protein at codon 180.
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.
Ishida
S
S
First Department of Internal Medicine, Osaka Medical College, Japan.
Sugino
M
M
Koizumi
N
N
Shinoda
K
K
Ohsawa
N
N
Ohta
T
T
Kitamoto
T
T
Tateishi
J
J
D000368:Aged; D000405:Akinetic Mutism / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D003062:Codon / Q000235:genetics*; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D004569:Electroencephalography; D005071:Evoked Potentials; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D009460:Neurologic Examination; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D011328:Prions / Q000235:genetics*
D003062:Codon; D011328:Prions