A case of Creutzfeldt-Jakob disease with a point mutation at codon 232: Correlation of MRI and neurologic findings

Abstract

Creutzfeldt-Jakob disease (CJD) is a subacute spongiform encephalopathy characterized clinically by progressive dementia with myoclonus and extrapyramidal symptoms. If no characteristic EEG findings are found, clinical diagnosis is difficult. CT is of little use. MRI has been reported both to be of little value1 and to be helpful in the diagnosis of CJD.2-4 A few CJD patients with a point mutation at codon 232 of prion protein gene have been reported.5-7 We describe MRI changes in the cerebral cortex of a patient with a mutation at codon 232. Case report. A 64-year-old woman who had about a year's history of difficulty in dressing was admitted to our hospital. At that time, she had developed abnormalities in her cortical functions (dressing apraxia, constructional apraxia, limb-kinetic apraxia, idiomotor apraxia, ideational apraxia, and apraxic agraphia). She showed no disturbance of recent or remote memory. Her past medical and family histories were unremarkable, and she …