Case report: Atypical young case of MV1 Creutzfeldt-Jakob disease with unusually long survival
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 ons...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Cellular Neuroscience |
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| author | Lucie Yeongran Ahn Mark L. Cohen Mark L. Cohen Ignazio Cali Ignazio Cali Tia Russell Jessica Ludwig Xun Jia Alberto Bizzi Lawrence B. Schonberger Ryan A. Maddox Rohini Paul Tania C. Ghazarian Jaspreet Garcha Mostafa Hammoudi Brian Stephen Appleby Brian Stephen Appleby Brian Stephen Appleby Brian Stephen Appleby |
| author_facet | Lucie Yeongran Ahn Mark L. Cohen Mark L. Cohen Ignazio Cali Ignazio Cali Tia Russell Jessica Ludwig Xun Jia Alberto Bizzi Lawrence B. Schonberger Ryan A. Maddox Rohini Paul Tania C. Ghazarian Jaspreet Garcha Mostafa Hammoudi Brian Stephen Appleby Brian Stephen Appleby Brian Stephen Appleby Brian Stephen Appleby |
| author_sort | Lucie Yeongran Ahn |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-2ec061ded0e9484584bde93071e190e7 |
| institution | Kabale University |
| issn | 1662-5102 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Cellular Neuroscience |
| spelling | doaj-art-2ec061ded0e9484584bde93071e190e72025-01-03T06:46:58ZengFrontiers Media S.A.Frontiers in Cellular Neuroscience1662-51022025-01-011810.3389/fncel.2024.15185421518542Case report: Atypical young case of MV1 Creutzfeldt-Jakob disease with unusually long survivalLucie Yeongran Ahn0Mark L. Cohen1Mark L. Cohen2Ignazio Cali3Ignazio Cali4Tia Russell5Jessica Ludwig6Xun Jia7Alberto Bizzi8Lawrence B. Schonberger9Ryan A. Maddox10Rohini Paul11Tania C. Ghazarian12Jaspreet Garcha13Mostafa Hammoudi14Brian Stephen Appleby15Brian Stephen Appleby16Brian Stephen Appleby17Brian Stephen Appleby18Medical Scientist Training Program, Case Western Reserve University, Cleveland, OH, United StatesDepartment of Pathology, Case Western Reserve University, School of Medicine, Cleveland, OH, United StatesNational Prion Disease Pathology Surveillance Center, Case Western Reserve University, School of Medicine, Cleveland, OH, United StatesDepartment of Pathology, Case Western Reserve University, School of Medicine, Cleveland, OH, United StatesNational Prion Disease Pathology Surveillance Center, Case Western Reserve University, School of Medicine, Cleveland, OH, United StatesNational Prion Disease Pathology Surveillance Center, Case Western Reserve University, School of Medicine, Cleveland, OH, United StatesNational Prion Disease Pathology Surveillance Center, Case Western Reserve University, School of Medicine, Cleveland, OH, United StatesNational Prion Disease Pathology Surveillance Center, Case Western Reserve University, School of Medicine, Cleveland, OH, United StatesNeuroradiology Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Neurologico Carlo Besta, Milan, ItalyCenters for Disease Control and Prevention (CDC), U.S. Department of Health and Human Services (USDHHS), Atlanta, GA, United StatesCenters for Disease Control and Prevention (CDC), U.S. Department of Health and Human Services (USDHHS), Atlanta, GA, United StatesDepartment of Psychiatry, Kaiser Permanente San Jose Medical Center, Graduate Medical Education, San Jose, CA, United StatesDepartment of Psychiatry, Loma Linda University School of Medicine, Graduate Medical Education, Loma Linda, CA, United StatesDepartment of Internal Medicine, Community Memorial Health Systems, Ventura, CA, United StatesDepartment of Neurology, Community Memorial Health Systems, Ventura, CA, United StatesDepartment of Pathology, Case Western Reserve University, School of Medicine, Cleveland, OH, United StatesNational Prion Disease Pathology Surveillance Center, Case Western Reserve University, School of Medicine, Cleveland, OH, United States0Department of Neurology, Case Western Reserve University, School of Medicine, Cleveland, OH, United States1Department of Psychiatry, Case Western Reserve University, School of Medicine, Cleveland, OH, United StatesCreutzfeldt-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.https://www.frontiersin.org/articles/10.3389/fncel.2024.1518542/fullsporadic CJD (sCJD)prion diseaseyoung-onset CJDrapidly progressing dementiaCreutzfeldt-Jakob disease (CJD) |
| spellingShingle | Lucie Yeongran Ahn Mark L. Cohen Mark L. Cohen Ignazio Cali Ignazio Cali Tia Russell Jessica Ludwig Xun Jia Alberto Bizzi Lawrence B. Schonberger Ryan A. Maddox Rohini Paul Tania C. Ghazarian Jaspreet Garcha Mostafa Hammoudi Brian Stephen Appleby Brian Stephen Appleby Brian Stephen Appleby Brian Stephen Appleby Case report: Atypical young case of MV1 Creutzfeldt-Jakob disease with unusually long survival Frontiers in Cellular Neuroscience sporadic CJD (sCJD) prion disease young-onset CJD rapidly progressing dementia Creutzfeldt-Jakob disease (CJD) |
| title | Case report: Atypical young case of MV1 Creutzfeldt-Jakob disease with unusually long survival |
| title_full | Case report: Atypical young case of MV1 Creutzfeldt-Jakob disease with unusually long survival |
| title_fullStr | Case report: Atypical young case of MV1 Creutzfeldt-Jakob disease with unusually long survival |
| title_full_unstemmed | Case report: Atypical young case of MV1 Creutzfeldt-Jakob disease with unusually long survival |
| title_short | Case report: Atypical young case of MV1 Creutzfeldt-Jakob disease with unusually long survival |
| title_sort | case report atypical young case of mv1 creutzfeldt jakob disease with unusually long survival |
| topic | sporadic CJD (sCJD) prion disease young-onset CJD rapidly progressing dementia Creutzfeldt-Jakob disease (CJD) |
| url | https://www.frontiersin.org/articles/10.3389/fncel.2024.1518542/full |
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