Creutzfeldt-Jakob disease presenting as progressive supranuclear palsy

Abstract

Progressive supranuclear palsy (PSP) is a neurodegenerative disorder characterized by an akinetic rigid syndrome with vertical supranuclear ophthalmoplegia, early falls, and levodopa resistance. The pathological substrate of PSP consists of filamentous tau degenerative lesions affecting neurons and glia. Other disorders can present with a similar clinical picture, most commonly corticobasal degeneration and multiple system atrophy. Non-neurodegenerative disorders are rare causes of the PSP syndrome. In this report we describe clinical and pathological features of two cases of Creutzfeldt-Jakob disease (CJD) presenting with the PSP syndrome and discuss which features may help prevent misdiagnosis. To our knowledge, this is the first report of cases of CJD with autopsy confirmation that presented with a PSP syndrome.