title: Creutzfeldt-Jakob disease with a codon 210 mutation: first pathological observation in a Japanese patient.
abstract: We herein report a case of Creutzfeldt-Jakob disease (CJD) with a V210I mutation and discuss the pathological findings. The patient's clinical course was quite similar to that of patients with sporadic CJD. Diffusion-weighted magnetic resonance imaging (MRI) disclosed a high signal intensity in the basal ganglia and cerebral cortices. Pathologically, spongiform degeneration of neurons and their processes with reactive astrocytosis was observed. Prion protein immunostaining revealed diffuse positive and plaque-type patterns. Only one Japanese case of CJD with this type of mutation has been reported to date, but without any pathological examination results. Therefore, this report is considered to be highly significant for understanding CJD.
authors.affiliation: Department of Neurology, Brain Science Center, Sapporo City General Hospital, Japan.
authors.forename: Yasutaka
authors.initials: Y
authors.lastname: Tajima
authors.forename: Chika
authors.initials: C
authors.lastname: Satoh
authors.forename: Yasunori
authors.initials: Y
authors.lastname: Mito
authors.forename: Tetsuyuki
authors.initials: T
authors.lastname: Kitamoto
mesh_terms: D001479:Basal Ganglia / Q000000981:diagnostic imaging / Q000473:pathology*; D002540:Cerebral Cortex / Q000000981:diagnostic imaging / Q000473:pathology*; D003062:Codon; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004569:Electroencephalography; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008875:Middle Aged; D009154:Mutation; D011328:Prions / Q000235:genetics; D015899:Tomography, Emission-Computed, Single-Photon
chemical_list: D003062:Codon; D011328:Prions; D004247:DNA