Creutzfeldt-Jakob Disease

Abstract

Background: The prevalence and characteristics of sleep-wake disturbances in sporadic Creutzfeldt-Jakob disease (sCJD) are poorly understood. Methods: Seven consecutive patients with definite sCJD underwent a systematic assessment of sleep-wake disturbances, including clinical history, video-polysomnography, and actigraphy. Extent and distribution of neurodegeneration was estimated by brain autopsy in six patients. Western blot analyses enabling classification and quantification of the protease-resistant isoform of the prion protein, PrP Sc , in thalamus and occipital cortex was available in four patients. Results: Sleep-wake symptoms were observed in all patients, and were prominent in four of them. All patients had severe sleep EEG abnormalities with loss of sleep spindles, very low sleep efficiency, and virtual absence of REM sleep. The correlation between different methods to assess sleep-wake functions (history, polysomnography, actigraphy, videography) was generally poor. Brain autopsy revealed prominent changes in cortical areas, but only mild changes in the thalamus. No mutation of the PRNP gene was found. Conclusions: This study demonstrates in sporadic Creutzfeldt-Jakob disease, first, the existence of sleep-wake disturbances similar to those reported in fatal familial insomnia in the absence of prominent and isolated thalamic neuronal loss, and second, the need of a multimodal approach for the unambiguous assessment of sleep-wake functions in these patients.

Eeg in Presenile Dementia Related to Cerebral Blood Flow and Autopsy Findings

“…In only one case were there triphasic, bilaterally synchronous waves. This confirms the reported variability of the EEG changes in this disease (May 1968) which in many ways resembles those found in diffuse cerebrovascular disorders (Nilsson el al. 1972).…”

“…In Jacob-Creutzfeldt's disease, an abnormal 'EEG is usually found which in many cases attains specific features with rhythmic trains of bilateral synchronous sharp-waves on high voltage polyphasic complexes. These complexes may, especially in later stages, be associated with myoclonic jerks, not always synchronously though (Jones & Nevin 1954, Nevin 1967, May 1968, Burger et al 1972, Elliot et al 1974, Caches 1974. In a small number of patients, a normal EEG has been seen even in the terminal stage (Fattovich 1960).…”

The Prion Diseases

“…Brain pathology shows diffuse spongiform degeneration, gliosis, and neuronal loss within the frontotemporal cerebral cortex, caudate, and basal ganglia, with relative sparing of deep thalamic nuclei and the cerebellum. 106,[108][109][110] Although this disease overlaps considerably with sCJD, it presents at a younger age and has a more prolonged duration than the nonfamilial variety. Most important, the D178N mutation was subsequently recognized as the cause of both this disease and the distinct phenotype of FFI, with the observed phenotype determined by the polymorphism at codon 129 (see Fatal Insomina later).…”