Prodromal Sleep Disturbances and Polysomnographic Findings in Patients With Creutzfeldt-Jakob Disease

Prion diseases are fatal neurodegenerative disorders of the central nervous system. Sporadic Creutzfeldt-Jakob disease (sCJD) is the most encountered form of the disease. The mean survival time is less than a year after diagnosis. Sleep problems are common in CJD. However, only a few studies revealed sleep pathology of CJD.

Between 2013 and 2023, patients diagnosed with probable CJD who had video electroencephalography (EEG) and polysomnography (PSG) studies were evaluated. Detailed examination of the first and last EEGs (if any) was based on background activity, slow wave paroxysms, epileptiform discharges, and additional findings. Macro- and microstructure of sleep and sleep disturbances were evaluated with PSG studies.

Seven patients (two females, five males) at the mean age of 60 years were analyzed. Gait disturbances, difficulty in speech, and visual problems were common in addition to progressive cognitive impairment. Neurological examination revealed ataxia, dysarthria, myoclonus and/or aphasia, and loss of vision. Typical 1 Hz generalized periodic discharges and slow wave activity on the background were encountered in the advanced stage of the disease. Sleep-related problems were reported by three patients (42.8%); however, when we questioned carefully, we realized all patients had sleep disturbances such as simple or complex movements during sleep, sleep vocalizations, insomnia, and daytime sleepiness simultaneously with the main symptom. During PSG recording, sleep-related apnea and insomnia were frequently reported. Interestingly, one patient had an initial de novo finding of Cheyne-Stokes apnea.

Sleep problems such as insomnia or apnea could be the first sign of CJD. It should be carefully questioned of every patient and caregiver. PSG may help to specify prognostic and clinical differences.