Periodic sharp wave complexes identify a distinctive phenotype in Creutzfeldt-Jacob disease

• Published in: Clinical neurophysiology 2022-11, Vol.143, p.124-132
• Main Authors: Castelli, Alessandro, Placidi, Fabio, Bonomi, Chiara Giuseppina, Di Giuliano, Francesca, Martorana, Alessandro, Pizzicannella, Giulia, Liguori, Claudio, Manfredi, Natalia, Mari, Luisa, Pagano, Andrea, Bramato, Valentina, Mercuri, Nicola Biagio, Izzi, Francesca
• Format: Article
• Language: English
• Subjects: 14-3-3 Protein; Brain - diagnostic imaging; Brain - pathology; Brain Magnetic Resonance Imaging; Creutzfeldt-Jacob Disease; Creutzfeldt-Jakob Syndrome - diagnostic imaging; Electroencephalography; Humans; Magnetic Resonance Imaging; Periodic Sharp Wave Complexes; Phenotype; Prognosis; Rapid Progressive Dementia; Retrospective Studies
• ISSN: 1388-2457; 1872-8952
• DOI: 10.1016/j.clinph.2022.08.025

•EEG criterion has the lowest sensitivity and specificity among the CJD criteria.•The early presence of periodic sharp wave complexes is associated with faster evolution and reduced survival time in CJD patients.•CJD patients with typical EEG findings have specific MRI and cerebrospinal fluid features. The aim of our study was to evaluate the diagnostic and prognostic value of Electroencephalogram (EEG), brain Magnetic Resonance Imaging (MRI) and cerebrospinal fluid features, currently representing Creutzfeldt-Jacob Disease (CJD) diagnostic criteria. A retrospective study on rapidly progressive dementia patients admitted at the Neurology Clinic of the University of Rome “Tor Vergata” between 2015 and 2020 was conducted. We evaluated clinical, EEG, cerebrospinal fluid and neuroradiological findings. Our analysis included 13 patients with probable CJD and 18 patients with non-CJD rapidly progressive dementia. Periodic sharp wave complexes were observed in 7/13 CJD and in 4/18 non-CJD patients (p =.151). The sub-analysis according to the EEG features revealed that CJD patients with earlier periodic sharp wave complexes had a significantly lower average survival time (p =.003), a shorter time to admission (p =.003) and lower levels of cerebrospinal fluid p-tau (p =.008) compared to CJD patients without periodic sharp wave complexes. Finally, they did not show signs of signal alteration on Fluid Attenuated Inversion Recovery images. Despite the lowest diagnostic specificity and sensibility among the CJD criteria, periodic sharp wave complexes could identify a distinctive phenotype hallmarked by a faster evolution, a reduced survival time and specific MRI and cerebrospinal fluid features. The early presence of the typical EEG pattern may play a prognostic role in CJD.