Autopsy-proven Creutzfeldt-Jakob disease with a codon 180 mutation showing dissociation between diffusion-weighted magnetic resonance imaging and single-photon emission computed tomography findings: Is this a suggestive finding in long survival?

摘要

Creutzfeldt-Jakob disease (CJD) is a rare transmissible disease that causes rapidly progressive dementia, myoclonic movements, and both pyramidal and ex-trapyramidal symptoms [1]. Radiological-ly, diffusion-weighted magnetic resonance imaging (DWI) is very useful in detecting cortical and basal ganglia abnormalities [2]. In most cases occurrence is sporadic, but a small proportion of cases are familial. Among various associated mutations of the prion protein (PrP) gene identified by genetic analyses, a point mutation at codon 180 has been confirmed in only 7 patients, who characteristically showed a relatively long survival, old-age onset, absence of periodic synchronous discharges on electroencephalography (EEG) and lack of affected family members [3-8]. We report another CJD case with the same mutation of PrP, where neuroradiologic findings showed an unexpected and possibly informative dissociation.