Prion Disease: A Challenging Diagnosis

Abstract

Introduction: Human prion diseases are a group of rare en- cephalopathies resulting in rapidly progressive dementia and ultimately death. While there are no effective treatments for any form of prion disease, prompt and efficient diagnosis is essential to prevent the spread of the self-propagating pro- tein, which may occur through aerosols, and avoid unnecessary or invasive testing. Diagnosis relies largely on physical examination, with many nonspecific findings, and laboratory testing, which has wide ranges of reported accuracy and high false positive rates with diseases such as Alzheimer’s dementia. Methods: Patients who underwent testing for prion dis- ease were retrospectively identified from the electronic health records at a single-center university hospital. Presenting symptoms, as well as laboratory, radiographic, and electroencephalogram findings, were recorded and analyzed by group of final diagnosis, including prion disease, not prion disease, and undiagnosed. Results: There were 27 patients identified, two who had a final diagnosis of prion disease, 20 who had a formal diagnosis other than prion disease, and five who remained undiagnosed until death. There was a high degree of overlap in present- ing symptoms. A high rate of false positive laboratory values, higher than previously reported, occurred for both the protein 14-3-3