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Neurological Sciences

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01-10-2021 | Insomnia | Original Article

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

Authors: Yanyuan Dai, Jie Shao, Yue Lang, Yudan Lv, Li Cui

Published in: Neurological Sciences | Issue 10/2021

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.

Takada LT, Geschwind MD (2013) Prion diseases. Semin Neurol 33:348–356. https://doi.org/10.1055/s-0033-1359314CrossRefPubMed

Geschwind MD (2015) Prion diseases. Continuum (Minneap Minn) 21:1612–1638. https://doi.org/10.1212/CON.0000000000000251CrossRef

Coulthart MB et al (2015) Creutzfeldt-Jakob disease mortality in Canada, 1998 to 2013. Can Commun Dis Rep 41:182–191. https://doi.org/10.14745/ccdr.v41i08a01CrossRefPubMedPubMedCentral

Iwasaki Y, Mimuro M, Yoshida M, Sobue G, Hashizume Y (2009) Clinical diagnosis of Creutzfeldt-Jakob disease: accuracy based on analysis of autopsy-confirmed cases. J Neurol Sci 277:119–123. https://doi.org/10.1016/j.jns.2008.10.026CrossRefPubMed

Zerr I et al (2009) Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Brain 132:2659–2668. https://doi.org/10.1093/brain/awp191CrossRefPubMedPubMedCentral

Wu L et al (2017) Clinical features and sleep analysis of Chinese patients with fatal familial insomnia. Sci Rep 7:3625. https://doi.org/10.1038/s41598-017-03817-3CrossRefPubMedPubMedCentral

Morabito FC et al (2017) Deep learning representation from electroencephalography of early-stage Creutzfeldt-Jakob disease and features for differentiation from rapidly progressive dementia. Int J Neural Syst 27:1650039. https://doi.org/10.1142/S0129065716500398CrossRefPubMed

Geschwind MD, Murray K (2018) Differential diagnosis with other rapid progressive dementias in human prion diseases. Handb Clin Neurol 153:371–397. https://doi.org/10.1016/B978-0-444-63945-5.00020-9CrossRefPubMed

王晶, 周., 肖康, 王园, 董小平, 石琦. 2017年中国克-雅病监测网络病例特征分析. 疾病监测, 226-231. https://doi.org/10.3784/j.issn.1003-9961.2019.03.010 (2019).

10.

Kobayashi A et al (2015) The influence of PRNP polymorphisms on human prion disease susceptibility: an update. Acta Neuropathol 130:159–170. https://doi.org/10.1007/s00401-015-1447-7CrossRefPubMed

11.

Xie D, Shen Q, Zhou J, Xu Y (2021) Non-motor symptoms are associated with REM sleep behavior disorder in Parkinson’s disease: a systematic review and meta-analysis. Neurol Sci 42:47–60. https://doi.org/10.1007/s10072-020-04769-9CrossRefPubMed

12.

Scaglione C et al (2005) REM sleep behaviour disorder in Parkinson’s disease: a questionnaire-based study. Neurol Sci 25:316–321. https://doi.org/10.1007/s10072-004-0364-7CrossRefPubMed

13.

Sharma DK, Boggild M, van Heuven AW, White RP (2017) Creutzfeldt-Jakob disease presenting as stroke: a case report and systematic literature review. Neurologist 22:48–53. https://doi.org/10.1097/NRL.0000000000000107CrossRefPubMed

14.

Matta G, Velakoulis D, Gaillard F, McLean CA, Yerra R (2017) Creutzfeldt-Jakob disease, cerebral amyloid angiopathy and Abeta-related angiitis with neuropsychiatric manifestations. Aust N Z J Psychiatry 51:740–741. https://doi.org/10.1177/0004867416686695CrossRefPubMed

15.

Wall CA, Rummans TA, Aksamit AJ, Krahn LE, Pankratz VS (2005) Psychiatric manifestations of Creutzfeldt-Jakob disease: a 25-year analysis. J Neuropsychiatr Clin Neurosci 17:489–495. https://doi.org/10.1176/jnp.17.4.489CrossRef

16.

Satishchandra P, Sharma P, Chatterji S, Shankar SK (1996) Psychiatric manifestations of Creutzfeldt Jakob disease: probable neuropathological correlates. Neurol India 44:43–46PubMed

17.

Marciani MG et al (1996) Rapidly progressive form of Creutzfeldt-Jakob disease without dementia: a case report. Int J Neurosci 84:115–120. https://doi.org/10.3109/00207459608987256CrossRefPubMed

18.

Kretzschmar HA, Ironside JW, DeArmond SJ, Tateishi J (1996) Diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Arch Neurol 53:913–920. https://doi.org/10.1001/archneur.1996.00550090125018CrossRefPubMed

19.

Bizzi A, Peoc’h K (2018) Amended diagnostic protocol increases the early diagnosis of sporadic Creutzfeldt-Jakob disease. Neurology 91:155–156. https://doi.org/10.1212/WNL.0000000000005871CrossRefPubMed

20.

Casimiro C et al (2012) Bilateral hyperintensity of the pulvinar and dorsomedial nucleus of the thalamus in sporadic Creutzfeldt-Jakob disease. Acta Medica Port 25(Suppl 1):41–44

21.

Satoh K et al (2011) Early detection of sporadic CJD by diffusion-weighted MRI before the onset of symptoms. J Neurol Neurosurg Psychiatry 82:942–943. https://doi.org/10.1136/jnnp.2008.155242CrossRefPubMed

22.

Atarashi R et al (2011) Ultrasensitive human prion detection in cerebrospinal fluid by real-time quaking-induced conversion. Nat Med 17:175–178. https://doi.org/10.1038/nm.2294CrossRefPubMed

23.

Godal D, Simon S, Cheng K, Knox JD (2015) A new diagnostic test for Creutzfeldt-Jakob disease: real-time quaking-induced conversion (RT-QulC). Can Commun Dis Rep 41:192–195. https://doi.org/10.14745/ccdr.v41i08a02CrossRefPubMedPubMedCentral

24.

Naismith SL et al (2010) Sleep well, think well: sleep-wake disturbance in mild cognitive impairment. J Geriatr Psychiatry Neurol 23:123–130. https://doi.org/10.1177/0891988710363710CrossRefPubMed

25.

Landolt HP et al (2006) Sleep-wake disturbances in sporadic Creutzfeldt-Jakob disease. Neurology 66:1418–1424. https://doi.org/10.1212/01.wnl.0000210445.16135.56CrossRefPubMed

26.

Terzano MG et al (1995) Precocious loss of physiological sleep in a case of Creutzfeldt Jakob disease: a serial polygraphic study. Sleep 18:849–858PubMed

27.

Kang P et al (2016) Sleep pathology in Creutzfeldt-Jakob disease. J Clin Sleep Med 12:1033–1039. https://doi.org/10.5664/jcsm.5944CrossRefPubMedPubMedCentral

28.

Brown RE, Basheer R, McKenna JT, Strecker RE, McCarley RW (2012) Control of sleep and wakefulness. Physiol Rev 92:1087–1187. https://doi.org/10.1152/physrev.00032.2011CrossRefPubMed

29.

Krasnianski A et al (2008) Fatal familial insomnia: clinical features and early identification. Ann Neurol 63:658–661. https://doi.org/10.1002/ana.21358CrossRefPubMed

30.

Montagna P, Gambetti P, Cortelli P, Lugaresi E (2003) Familial and sporadic fatal insomnia. Lancet Neurol 2:167–176. https://doi.org/10.1016/s1474-4422(03)00323-5CrossRefPubMed

31.

Parchi P, Strammiello R, Giese A, Kretzschmar H (2011) Phenotypic variability of sporadic human prion disease and its molecular basis: past, present, and future. Acta Neuropathol 121:91–112. https://doi.org/10.1007/s00401-010-0779-6CrossRefPubMed

32.

Katsube M, Shiota Y, Harada T, Shibata H, Nagai A (2013) A case of MM1+2 Creutzfeldt-Jakob disease with a longitudinal study of EEG and MRI. Rinsho Byori 61:995–1000PubMed

33.

Abraham RR, Pallath V, Am C, Ramnarayan K, Kamath A (2012) Avenues for professional development: faculty perspectives from an Indian medical school. Kathmandu Univ Med J (KUMJ) 10:60–65. https://doi.org/10.3126/kumj.v10i4.10997CrossRef

34.

Parchi P et al (2000) Genetic influence on the structural variations of the abnormal prion protein. Proc Natl Acad Sci U S A 97:10168–10172. https://doi.org/10.1073/pnas.97.18.10168CrossRefPubMedPubMedCentral

35.

Parchi P et al (1999) Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol 46:224–233CrossRef

36.

Parchi P et al (2009) Incidence and spectrum of sporadic Creutzfeldt-Jakob disease variants with mixed phenotype and co-occurrence of PrPSc types: an updated classification. Acta Neuropathol 118:659–671. https://doi.org/10.1007/s00401-009-0585-1CrossRefPubMedPubMedCentral

37.

Parchi P et al (2012) Consensus classification of human prion disease histotypes allows reliable identification of molecular subtypes: an inter-rater study among surveillance centres in Europe and USA. Acta Neuropathol 124:517–529. https://doi.org/10.1007/s00401-012-1002-8CrossRefPubMedPubMedCentral

38.

Kobayashi A et al (2008) Plaque-type deposition of prion protein in the damaged white matter of sporadic Creutzfeldt-Jakob disease MM1 patients. Acta Neuropathol 116:561–566. https://doi.org/10.1007/s00401-008-0425-8CrossRefPubMed

39.

Rossi M et al (2017) Atypical Creutzfeldt-Jakob disease with PrP-amyloid plaques in white matter: molecular characterization and transmission to bank voles show the M1 strain signature. Acta Neuropathol Commun 5:87. https://doi.org/10.1186/s40478-017-0496-7CrossRefPubMedPubMedCentral

40.

Gelpi E et al (2013) Atypical neuropathological sCJD-MM phenotype with abundant white matter Kuru-type plaques sparing the cerebellar cortex. Neuropathology 33:204–208. https://doi.org/10.1111/j.1440-1789.2012.01341.xCrossRefPubMed

41.

Meissner B et al (2005) Sporadic Creutzfeldt-Jakob disease: clinical and diagnostic characteristics of the rare VV1 type. Neurology 65:1544–1550. https://doi.org/10.1212/01.wnl.0000184674.32924.c9CrossRefPubMed

42.

Krasnianski A et al (2006) Clinical features and diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease. Arch Neurol 63:876–880. https://doi.org/10.1001/archneur.63.6.876CrossRefPubMed

43.

Zerr I, Parchi P (2018) Sporadic Creutzfeldt-Jakob disease. Handb Clin Neurol 153:155–174. https://doi.org/10.1016/B978-0-444-63945-5.00009-XCrossRefPubMed

44.

Gambetti P, Kong Q, Zou W, Parchi P, Chen SG (2003) Sporadic and familial CJD: classification and characterisation. Br Med Bull 66:213–239. https://doi.org/10.1093/bmb/66.1.213CrossRefPubMed

45.

Barash JA (2009) Clinical features of sporadic fatal insomnia. Rev Neurol Dis 6:E87–E93PubMed

Title: Clinical manifestations and polysomnography-based analysis in nine cases of probable sporadic Creutzfeldt-Jakob disease
Authors: Yanyuan Dai
Jie Shao
Yue Lang
Yudan Lv
Li Cui
Publication date: 01-10-2021
Publisher: Springer International Publishing
Keywords: Insomnia
Creutzfeldt-Jakob Disease
Mutism
Mutism
Polysomnography
Published in: Neurological Sciences / Issue 10/2021
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-021-05102-8

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

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

Abstract

Purpose

Patients and methods

Results

Conclusion

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Purpose

Patients and methods

Results

Conclusion

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