An atypical case of Creutzfeldt-Jakob disease mimicking frontotemporal dementia: genotypic influence and clinical implications
Abstract We report an atypical case of Creutzfeldt-Jakob Disease (CJD) mimicking Frontotemporal Dementia (FTD) in a 68-year-old male. The patient initially presented with an anxious-depressive syndrome, progressing over 29 months to include dysexecutive syndrome, stereotyped speech, inertia, social...
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BMC
2025-08-01
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| Series: | BMC Geriatrics |
| Online Access: | https://doi.org/10.1186/s12877-025-06290-0 |
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| author | Carlo Manco Delia Righi Barbara Pucci Bruno Damiano Andrea Mignarri Nicola De Stefano Domenico Plantone |
| author_facet | Carlo Manco Delia Righi Barbara Pucci Bruno Damiano Andrea Mignarri Nicola De Stefano Domenico Plantone |
| author_sort | Carlo Manco |
| collection | DOAJ |
| description | Abstract We report an atypical case of Creutzfeldt-Jakob Disease (CJD) mimicking Frontotemporal Dementia (FTD) in a 68-year-old male. The patient initially presented with an anxious-depressive syndrome, progressing over 29 months to include dysexecutive syndrome, stereotyped speech, inertia, social withdrawal, verbal fluency impairments, and marked dyspraxia. Diagnostic imaging revealed signal alterations on MRI, while CSF analysis showed elevated T-TAU, neurofilament light chain (NfL), and glial fibrillary acidic protein (GFAP) levels. A second-generation RT-QuIC (SG-RT-QuIC) confirmed prion disease, with genetic testing identifying a codon 129 MV polymorphism and a deletion in the third octapeptide repeat. This case highlights the importance of integrating advanced diagnostic tools, such as SG-RT-QuIC and comprehensive genotyping, in evaluating atypical presentations of CJD. Early elevated GFAP levels highlight the usefulness of considering neuroinflammatory markers in slowly progressive forms of CJD. |
| format | Article |
| id | doaj-art-86089a0e7e964c3082a1f36af1f695cd |
| institution | Kabale University |
| issn | 1471-2318 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Geriatrics |
| spelling | doaj-art-86089a0e7e964c3082a1f36af1f695cd2025-08-20T04:02:55ZengBMCBMC Geriatrics1471-23182025-08-012511610.1186/s12877-025-06290-0An atypical case of Creutzfeldt-Jakob disease mimicking frontotemporal dementia: genotypic influence and clinical implicationsCarlo Manco0Delia Righi1Barbara Pucci2Bruno Damiano3Andrea Mignarri4Nicola De Stefano5Domenico Plantone6Department of Medicine, Surgery and Neuroscience, University of SienaDepartment of Medicine, Surgery and Neuroscience, University of SienaAzienda Ospedaliero-Universitaria SeneseDepartment of Medicine, Surgery and Neuroscience, University of SienaAzienda USL Toscana Sud EstDepartment of Medicine, Surgery and Neuroscience, University of SienaDepartment of Medicine, Surgery and Neuroscience, University of SienaAbstract We report an atypical case of Creutzfeldt-Jakob Disease (CJD) mimicking Frontotemporal Dementia (FTD) in a 68-year-old male. The patient initially presented with an anxious-depressive syndrome, progressing over 29 months to include dysexecutive syndrome, stereotyped speech, inertia, social withdrawal, verbal fluency impairments, and marked dyspraxia. Diagnostic imaging revealed signal alterations on MRI, while CSF analysis showed elevated T-TAU, neurofilament light chain (NfL), and glial fibrillary acidic protein (GFAP) levels. A second-generation RT-QuIC (SG-RT-QuIC) confirmed prion disease, with genetic testing identifying a codon 129 MV polymorphism and a deletion in the third octapeptide repeat. This case highlights the importance of integrating advanced diagnostic tools, such as SG-RT-QuIC and comprehensive genotyping, in evaluating atypical presentations of CJD. Early elevated GFAP levels highlight the usefulness of considering neuroinflammatory markers in slowly progressive forms of CJD.https://doi.org/10.1186/s12877-025-06290-0 |
| spellingShingle | Carlo Manco Delia Righi Barbara Pucci Bruno Damiano Andrea Mignarri Nicola De Stefano Domenico Plantone An atypical case of Creutzfeldt-Jakob disease mimicking frontotemporal dementia: genotypic influence and clinical implications BMC Geriatrics |
| title | An atypical case of Creutzfeldt-Jakob disease mimicking frontotemporal dementia: genotypic influence and clinical implications |
| title_full | An atypical case of Creutzfeldt-Jakob disease mimicking frontotemporal dementia: genotypic influence and clinical implications |
| title_fullStr | An atypical case of Creutzfeldt-Jakob disease mimicking frontotemporal dementia: genotypic influence and clinical implications |
| title_full_unstemmed | An atypical case of Creutzfeldt-Jakob disease mimicking frontotemporal dementia: genotypic influence and clinical implications |
| title_short | An atypical case of Creutzfeldt-Jakob disease mimicking frontotemporal dementia: genotypic influence and clinical implications |
| title_sort | atypical case of creutzfeldt jakob disease mimicking frontotemporal dementia genotypic influence and clinical implications |
| url | https://doi.org/10.1186/s12877-025-06290-0 |
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