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CASE REPORT article

Front. Cell. Neurosci.
Sec. Cellular Neuropathology
Volume 18 - 2024 | doi: 10.3389/fncel.2024.1518542

Case Report: Atypical Young Case of MV1 Creutzfeldt-Jakob Disease with Unusually Long Survival

Provisionally accepted
Lucie Yeongran Ahn Lucie Yeongran Ahn 1Mark L Cohen Mark L Cohen 2,3*Ignazio Cali Ignazio Cali 2,3Tia Russell Tia Russell 2*Jessica Ludwig Jessica Ludwig 2*Xun Jia Xun Jia 2*Alberto Bizzi Alberto Bizzi 4*Lawrence B Schonberger Lawrence B Schonberger 5*Ryan A Maddox Ryan A Maddox 5*Rohini Paul Rohini Paul 6*Tania C Ghazarian Tania C Ghazarian 7*Jaspreet Garcha Jaspreet Garcha 8*Mostafa Hammoudi Mostafa Hammoudi 9*Brian Stephen Appleby Brian Stephen Appleby 10,11,2,3*
  • 1 School of Medicine, Case Western Reserve University, Cleveland, Ohio, United States
  • 2 National Prion Disease Pathology Surveillance Center, Department of Pathology, School of Medicine, Case Western Reserve University, Cleveland, Ohio, United States
  • 3 Department of Pathology, School of Medicine, Case Western Reserve University, Cleveland, Ohio, United States
  • 4 Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
  • 5 Centers for Disease Control and Prevention, U.S. Department of Health and Human Services, Atlanta, Georgia, United States
  • 6 Department of Psychiatry, Kaiser Permanente San Jose Medical Center, San Jose, California, United States
  • 7 Department of Psychiatry, Loma Linda University School of Medicine, Loma Linda, California, United States
  • 8 Department of Internal Medicine, Community Memorial Health Systems, Ventura, California, United States
  • 9 Department of Neurology, Community Memorial Health Systems, Ventura, California, United States
  • 10 Department of Neurology, School of Medicine, Case Western Reserve University, Cleveland, Ohio, United States
  • 11 Department of Psychiatry, Case Western Reserve University, School of Medicine, Cleveland, Ohio, United States

The final, formatted version of the article will be published soon.

    Creutzfeldt-Jakob disease (CJD) is a rare, fatal, rapidly progressive neurodegenerative disease resulting from an accumulation of misfolded prion proteins (PrP). CJD affects 1-2 new individuals per million each year, and the sporadic type accounts for 90% of those cases. Though the median age at onset and disease duration vary depending on the subtype of sporadic CJD (sCJD), the disease typically affects middle-aged to elderly individuals with a median survival of 4-6 months. sCJD in younger individuals is extremely rare. Here, we present a 21-year-old female who died with a sporadic prion disease. She presented with psychiatric symptoms followed by a rapidly progressive neurocognitive and motor decline. EEG was negative for periodic sharp wave complexes; however, brain MRI was suggestive of prion disease. The cerebrospinal fluid (CSF) real-time quaking-induced conversion (RT-QuIC) assay was indeterminate. Neuropathologic examination at autopsy revealed severe neuronal loss and gliosis with secondary white matter degeneration but minimal spongiform changes and PrP deposits in the cerebellum and neocortex by immunohistochemistry. Absence of pathogenic mutations and methionine/valine heterozygosity at codon 129 of the prion protein gene (PRNP), atypical type 1 protease-resistant PrP that lacks or shows underrepresentation of the diglycosylated PrP isoform by western blot analysis, and no acquired prion disease risk factors resulted in a final diagnosis of atypical sCJD. Very young onset sCJD often has atypical clinical presentations and disease progression, neuropathological examination results, and/or laboratory test results that may confound diagnosis. It is critical to perform thorough, comprehensive evaluations to make an accurate diagnosis, which includes autopsy confirmation with histology, prion protein typing and prion gene sequencing.

    Keywords: sCJD = sporadic CJD, Prion Disease, Young-Onset CJD, Rapidly progressing dementia, CJD (Creutzfeldt-Jakob disease)

    Received: 28 Oct 2024; Accepted: 10 Dec 2024.

    Copyright: © 2024 Ahn, Cohen, Cali, Russell, Ludwig, Jia, Bizzi, Schonberger, Maddox, Paul, Ghazarian, Garcha, Hammoudi and Appleby. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Mark L Cohen, National Prion Disease Pathology Surveillance Center, Department of Pathology, School of Medicine, Case Western Reserve University, Cleveland, 44106, Ohio, United States
    Tia Russell, National Prion Disease Pathology Surveillance Center, Department of Pathology, School of Medicine, Case Western Reserve University, Cleveland, 44106, Ohio, United States
    Jessica Ludwig, National Prion Disease Pathology Surveillance Center, Department of Pathology, School of Medicine, Case Western Reserve University, Cleveland, 44106, Ohio, United States
    Xun Jia, National Prion Disease Pathology Surveillance Center, Department of Pathology, School of Medicine, Case Western Reserve University, Cleveland, 44106, Ohio, United States
    Alberto Bizzi, Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    Lawrence B Schonberger, Centers for Disease Control and Prevention, U.S. Department of Health and Human Services, Atlanta, Georgia, United States
    Ryan A Maddox, Centers for Disease Control and Prevention, U.S. Department of Health and Human Services, Atlanta, Georgia, United States
    Rohini Paul, Department of Psychiatry, Kaiser Permanente San Jose Medical Center, San Jose, California, United States
    Tania C Ghazarian, Department of Psychiatry, Loma Linda University School of Medicine, Loma Linda, California, United States
    Jaspreet Garcha, Department of Internal Medicine, Community Memorial Health Systems, Ventura, California, United States
    Mostafa Hammoudi, Department of Neurology, Community Memorial Health Systems, Ventura, California, United States
    Brian Stephen Appleby, National Prion Disease Pathology Surveillance Center, Department of Pathology, School of Medicine, Case Western Reserve University, Cleveland, 44106, Ohio, United States

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