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Sensory disturbances in Creutzfeldt-Jakob disease

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Abstract

Background

Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disease characterized by rapidly progressive dementia, motor impairments, and psychiatric symptoms. Sensory disturbances were occasionally reported as well. The study aims to describe the sensory symptoms of the disease.

Methods

The CJD Israeli National Database was screened for patients who presented sensory symptoms throughout the disease course. Symptoms, characteristics, and distribution were reviewed and the demographic and clinical data (sex, etiologies of the disease, age of onset, disease duration, neurological exam finding, tau protein level, EEG and MRI findings) were compared with the demographics and clinical data of CJD without sensory symptoms. Then, the patients with sensory symptoms were divided into patients with symptom distribution consistent with peripheral nervous system (PNS) involvement and central nervous system (CNS) involvement. The demographics and clinical data of the 2 groups were compared.

Results

Eighty-four CJD patients with sensory symptoms and 645 CJD patients without sensory symptoms were included in the study. Sensory symptoms were more common in genetic E200K CJD patients (14.6% vs. 5.6% respectively, p = 0.0005) (chi-squared test). Numbness and neuropathic pain were the most common symptoms and distribution of symptoms of “stocking gloves” with decreased deep tendon reflexes suggesting peripheral neuropathy in 44% of the patients. In these patients, the classical EEG findings of Periodic Sharp Wave Complexes were less often found (58% vs. 22%, p = 0.02) (chi-squared test).

Conclusions

Sensory symptoms are more common in E200K patients and often follow peripheral neuropathy distribution that suggests PNS involvement.

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Data availability

Anonymized data not published within this article will be made available by request from any qualified investigator.

References

  1. Doherr MG (2007) Brief review on the epidemiology of transmissible spongiform encephalopathies (TSE). Vaccine 26(25):5619–5624

    Article  Google Scholar 

  2. Sorgato MC, Bertoli A (2006) Physiopathologic implications of the structural and functional domains of the prion protein. Ital J Biochem 55:222–231

    CAS  PubMed  Google Scholar 

  3. Wang Z, Feng B, Xiao G, Zhou Z (2016) Roles of methionine oxidation in E200K prion protein misfolding: implications for the mechanism of pathogenesis in E200K linked familial Creutzfeldt-Jakob disease. Biochim Biophys Acta 1864:346–358

    Article  CAS  PubMed  Google Scholar 

  4. Ironside JW, Ghetti B, Head MW, et al. (2008) Prion diseases. In: Greenfield’s neuropathology, 8th ed., Eds: Love S, Louis DN, Ellison DW. Chapter 16, Hodder Arnold, London. 1197–1273

  5. Eggenberger E (2007) Prion disease. Neurol Clin 25:833–842

    Article  PubMed  Google Scholar 

  6. Knight RS, Will RG (2004) Prion diseases. J Neurol Neurosurg Psychiatry 75:i36–i42

    Article  PubMed  PubMed Central  Google Scholar 

  7. Mead S, Lloyd S, Collinge J (2019) Genetic factors in mammalian prion diseases. Annu Rev Genet 53:117–147

    Article  CAS  PubMed  Google Scholar 

  8. Hsiao K, Meiner Z, Kahana E et al (1991) Mutation of the prion protein in Libyan Jews with Creutzfeldt-Jakob disease. N Engl J Med 324:1091–1097

    Article  CAS  PubMed  Google Scholar 

  9. Kobayashi A, Kitamoto T, Mizusawa H (2018) Iatrogenic Creutzfeldt-Jakob disease. Handb Clin Neurol 153:207–218

    Article  PubMed  Google Scholar 

  10. Baiardi S, Capellari S, Bartoletti et al (2018) Unusual clinical presentations challenging the early clinical diagnosis of Creutzfeldt-Jakob disease. J Alzheimers Dis 64:1051–1065

    Article  CAS  PubMed  Google Scholar 

  11. Arwani M, Purohit A, Haddad A, Rana S (2018) Creutzfeldt-Jakob disease with unusual presentation of peripheral neuropathy and ophthalmoplegia. Avicenna J Med 8:153–156

    Article  PubMed  PubMed Central  Google Scholar 

  12. Cohen OS, Chapman J, Lee H et al (2011) Pruritus in familial Creutzfeldt-Jakob disease: a common symptom associated with central nervous system pathology. J Neurol 258:89–95

    Article  PubMed  Google Scholar 

  13. Macleod MA, Stewart GE, Zeidler M et al (2002) Sensory features of variant Creutzfeldt-Jakob disease. J Neurol 249:706–11 (–11)

    Article  PubMed  Google Scholar 

  14. Baiardi S, Rossi M, Mammana A et al (2021) Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification. Acta Neuropathol 142:707–728

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Baiardi S, Redaelli V, Ripellino P et al (2019) Prion-related peripheral neuropathy in sporadic Creutzfeldt-Jakob disease. J Neurol Neurosurg Psychiatry 90:424–427

    Article  PubMed  Google Scholar 

  16. WHO (1998) Global surveillance, diagnosis and tapy of human transmissible spongiform encephalopathies: report of the WHO consultation. In: World health organization: emerging and other communicable diseases, surveillance and control, Geneva, pp 9–11

  17. Shin JW, Byeongsoo Y, Seung HO et al (2017) Redefining periodic patterns on electroencephalograms of patients with sporadic Creutzfeldt-Jakob disease. Neurophysiol Clin 128:756–762

    Article  Google Scholar 

  18. Caobelli F, Cobelli M, Pizzocaro C et al (2015) The role of neuroimaging in evaluating patients affected by Creutzfeldt-Jakob disease: a systematic review of the literature. J Neuroimaging 25:2–13

    Article  PubMed  Google Scholar 

  19. Trachtenbroit I, Cohen OS, Chapman J et al (2022) Epidemiological and clinical characteristics of patients with late-onset Creutzfeldt-Jakob disease. Neurol Sci 43:4275–4279

    Article  PubMed  Google Scholar 

  20. Appel S, Chapman J, Cohen OS et al (2015) Seizures in E200K familial and sporadic Creutzfeldt-Jakob disease. Acta Neurol Scand 131:152–157

    Article  CAS  PubMed  Google Scholar 

  21. Niewiadomska M, Kulczycki J, Wochnik-Dyjas D et al (2002) Impairment of the peripheral nervous system in Creutzfeldt-Jakob disease. Arch Neurol 59:1430–1436

    Article  PubMed  Google Scholar 

  22. Lee CC, Kuo LT, Wang CH et al (2005) Accumulation of prion protein in the peripheral nervous system in human prion diseases. J Neuropathol Exp Neurol 64:716–721

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Neurology, Barzilai University Medical Center, Ashkelon, Israel

    Shmuel Appel, Zeev Nitsan & Esther Kahana

  2. Faculty of Health Sciences, Ben Gurion University of the Negev, Beer-Sheva, Israel

    Shmuel Appel, Yael Cohen, Zeev Nitsan & Esther Kahana

  3. Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel

    Shira Appel, Oren S. Cohen & Joab Chapman

  4. Department of Neurology, Assaf Harofeh Medical Center, Zerifin, Israel

    Oren S. Cohen

  5. Department of Neurology, The Sagol Neuroscience Center, and Chaim Sheba Medical Center, Ramat Gan, Israel

    Joab Chapman

  6. Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah Hebrew University Medical Center, Jerusalem, Israel

    Hanna Rosenmann

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  1. Shmuel Appel
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  2. Yael Cohen
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  3. Shira Appel
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  4. Oren S. Cohen
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  7. Zeev Nitsan
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  8. Esther Kahana
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Contributions

SA: study concept and design, analysis of data and interpretation, manuscript writing, study supervision.

YC: study concept and design, acquisition of data, analysis of data, manuscript reviewing.

SA: manuscript writing, manuscript reviewing.

OC: acquisition of data, critical revision of the manuscript for important intellectual content.

JC: acquisition of data, critical revision of the manuscript for important intellectual content.

HR: acquisition of data, critical revision of the manuscript for important intellectual content.

ZN: acquisition of data, critical revision of the manuscript for important intellectual content.

EK: study concept and design, acquisition and analysis of data and interpretation, study supervision.

Corresponding author

Correspondence to Shmuel Appel.

Ethics declarations

Ethics approval

The study was approved by the local IRB committee of Barzilai Medical Center.

Informed consent

The study was waived by the local Ethics Committee of Barzilai Medical Center in view of the retrospective nature of the study and the unidentified data.

Conflict of interest

The authors declare no competing interests.

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Appel, S., Cohen, Y., Appel, S. et al. Sensory disturbances in Creutzfeldt-Jakob disease. Neurol Sci 45, 1057–1062 (2024). https://doi.org/10.1007/s10072-023-07093-0

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  • DOI: https://doi.org/10.1007/s10072-023-07093-0

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