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Clinical manifestations and polysomnography-based analysis in nine cases of probable sporadic Creutzfeldt-Jakob disease

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Abstract

Purpose

To summarize the clinical characteristics of patients with sporadic Creutzfeldt-Jakob disease (sCJD), analyze its sleep disorder characteristics using polysomnography (PSG), and compare sleep disturbances with those of fatal familial insomnia (FFI).

Patients and methods

We retrospectively reviewed the sleep disturbances; cerebrospinal fluid (CSF) protein 14-3-3 (CSF-14-3-3 protein); prion protein gene, PRNP; magnetic resonance imaging; and electroencephalogram (EEG) of nine sCJD patients

Results

Of the nine sCJD patients, six were positive for CSF-14-3-3 protein. In the eight patients who completed diffusion-weighted imaging, seven showed cortical “ribbons sign” and two showed high signal in the basal ganglia. All nine patients had an EEG, which showed an increase in background slow waves; moreover, four showed typical periodic sharp wave complexes. The codon diversity at position 129, 219 of nine patients were MM, EE. Almost all nine patients had sleep disturbances such as insomnia, hypersomnia, and periodic limb movement disorder (PLMD). Five patients completed PSG, which demonstrated severe sleep structure disorder, prolonged total waking time, significantly reduced sleep efficiency, and absent rapid eye movement in some severe patients.

Conclusion

Sleep disturbances are common in sCJD patients, manifested as insomnia, lethargy, and PLMD. The sCJD patients often demonstrate severe sleep structure disorder through PSG, which is similar to patients with FFI.

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Abbreviations

AD:

Alzheimer’s disease

AHI:

apnea hypopnea index

CJD:

Creutzfeldt-Jakob disease

CSF:

cerebrospinal fluid

CSF-14-3-3 protein:

protein 14-3-3

DWI:

using diffusion-weighted imaging

ECG:

electrocardiogram

EEG:

electroencephalogram

EMG:

electromyography

FFI:

fatal familial insomnia

FLAIR:

fluid-attenuated inversion recovery

MRI:

magnetic resonance imaging

NREM:

non-REM

PD:

Parkinson’s disease

PLMS:

periodic leg movement

PSG:

polysomnography

REM:

rapid eye movement

RPD:

rapidly progressive dementias

RT-QulC:

real-time quaking-induced conversion

sCJD:

sporadic Creutzfeldt-Jakob disease

SL:

sleep latency

SPT:

time of sleep period

T1WI:

T1-weighted imaging

T2WI:

T2-weighted imaging

TST:

total sleep time

WASO:

waking time during sleep

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Acknowledgements

We thank the participants and all the study staff.

Ethical approval

The present study was approved by ethics committees at Changchun in Chian.

Informed consent

The present study has obtained informed consent from all patients and authors.

Competing interests

The authors declare no competing interests.

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Author notes

  1. Yanyuan Dai and Jie Shao are dual co-first authors in this work, for the two first authors have contributed equally to the manuscript. This designation has been obtained consent from all authors of the manuscript.

Authors and Affiliations

  1. Department of Neurology, The First Hospital of Jilin University, 1 Xinming Street, Changchun, Jilin, China

    Yanyuan Dai, Jie Shao, Yue Lang, Yudan Lv & Li Cui

  2. Department of Sleep Medicine, Mental Health Center of Shantou University, Shantou, China

    Yanyuan Dai

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  1. Yanyuan Dai
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Contributions

Yanyuan Dai and Jie Shao: conception, study design, execution, acquisition of data, analysis and interpretation, and writing

Yue Lang: acquisition of data, analysis, and interpretation;

Yudan Lv: analysis and interpretation;

Li Cui: conception, study design, analysis and interpretation, and critical review of the article.

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Correspondence to Li Cui.

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Dai, Y., Shao, J., Lang, Y. et al. Clinical manifestations and polysomnography-based analysis in nine cases of probable sporadic Creutzfeldt-Jakob disease. Neurol Sci 42, 4209–4219 (2021). https://doi.org/10.1007/s10072-021-05102-8

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