Unusual presentations of Creutzfeldt-Jakob disease: A case series and literature review

Abstract

Transmissible spongiform encephalopathies are uncommon neurodegenerative diseases caused by misfolded prion protein deposition. Creutzfeldt-Jakob disease (CJD), the commonest human spongiform encephalopathy, has an average survival of 5 months. Common presenting symptoms are rapid cognitive decline, psychiatric disturbances, cerebellar ataxia, visual deficits, and movement disorders including myoclonus and parkinsonism. CJD may also present in atypical and nonspecific ways, hampering diagnosis. We present 3 pathologically verified cases with unusual onset and a review of recent literature on early clinical features of CJD. MRI and CSF biomarkers are generally less sensitive in patients with atypical presentations, and in such cases the disease course may be longer than in typical CJD.