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.

Pearls, Perils, and Pitfalls in the Use of the Electroencephalogram

“…Creutzfeldt-Jakob disease, a prion disorder of the central nervous system (CNS), is also characterized by a very specific EEG pattern, which consists of periodic, bilaterally synchronous wave forms. 49 The periodic discharges take the form of diphasic or triphasic sharp waves, which repeat regularly at a frequency close to one per second. There is a fairly close relationship between the periodic complexes and myoclonic jerks; the latter may occur a few milliseconds before or after the electrical event.…”

Electroencephalographic and clinicopathological studies on Creutzfeldt-Jakob syndrome

“…It is interesting that there seem to be some remarkable differences in the EEG findings between T. H. 59yr M. these two subgroups of the syndrome (Table 1). In reviewing the EEG findings of previously reported cases of subacute spongiform encephalopathy (Gloor et al, 1968;Goldhammer et al, 1972;Burger et al, 1972), it is confirmed that theabovementionedcharacteristics of the periodic spontaneous discharges of the Creutzfeldt-Jakob syndrome are most marked in subacute spongiform encephalopathy. It is said that the periodic discharge is recorded in about one-half of cases with Creutzfeldt-Jakob syndrome verified by necropsy (May, 1968;Yuasa, 1969;Hamanaka et al, M. 0.…”

“…66yr M. 1970). However, in reports dealing only with subacute spongiform encephalopathy, almost all of the cases showed the periodic synchronous discharges (Goldhammer et al, 1972;Burger et al, 1972;Roos et al, 1973). It may well be said that subacute spongiform encephalopathy, which is regarded as the most clearly definable subtype of Creutzfeldt-Jakob syndrome clinically and neuropathologically (Matsuoka et al, 1970;Schlote, 1970), also has the most characteristic s ofperiodic EEG findings.…”

EEG–EMG polygraphic study of dystonia and myoclonus in a case of Creutzfeldt–Jakob disease

“…The main symptoms, course of illness, and MRI findings were typical of sporadic CJD, and the initial symptoms of visual signs and myoclonus and methionine homozygosity at codon 129 of the human prion protein gene in our patient are in agreement with the elucidated genotype–phenotype correlation [5] . Myoclonus occurs in approximately 90% of patients with CJD; it appears at a relatively advanced stage of CJD and disappears in the terminal stage [1,3] . Myoclonus in CJD can be classified as rhythmic or irregular and positive or negative [2,6] , and polygraphic study reveals that positive EMG bursts of periodic myoclonus are always time-locked with PSWCs [2,6] .…”

“…Periodic sharp wave complexes (PSWCs) on electroencephalography are characteristic of Creutzfeldt–Jakob disease (CJD) and are frequently associated with rhythmic myoclonic jerks which are time-locked to PSWCs [1–3] . Some patients with CJD also present dystonia during the course of the disease.…”