NR AFVY
AU Ishida,S.; Sugino,M.; Koizumi,N.; Shinoda,K.; Ohsawa,N.; Ohta,T.; Kitamoto,T.; Tateishi,J.
TI Serial MRI in early Creutzfeldt-Jakob disease with a point mutation of prion protein at codon 180
QU Neuroradiology 1995 Oct; 37(7): 531-4
PT journal article
AB We report a 66-year-old woman with histologically diagnosed Creutzfeldt-Jakob 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.
IN Bei einer histopathologisch bestätigten 66-jährigen Creutzfeldt-Jakob-Patientin wurden ein charakteristischer Magnetresonanzbefund, erst nach 16 Monaten Bewegungsstörungen, selbst nach 2 Jahren keine periodischen, scharfen EEG-Wellen und erstmals eine Punktmutation im Codon 180 gefunden.
ZR 17
MH Aged; Akinetic Mutism/diagnosis/genetics/pathology; Case Report; Cerebral Cortex/pathology; Codon/*genetics; Creutzfeldt-Jakob Syndrome/*diagnosis/genetics/pathology; Diagnosis, Differential; Electroencephalography; Evoked Potentials; Female; Follow-Up Studies; Human; Magnetic Resonance Imaging/*methods; Neurologic Examination; Point Mutation/*genetics; Polymerase Chain Reaction/methods; Prions/*genetics
AD First Department of Internal Medicine, Osaka Medical College, Japan.
SP englisch
PO Deutschland