SPORADIC CREUTZFELDT-JAKOB DISEASE: CLINICAL FEATURES, DIAGNOSIS AND THERAPEUTIC HORIZONS.

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare, rapidly progressive, and fatal prion disease that remains a major diagnostic and therapeutic challenge. Its presentation often overlaps with other causes of rapidly progressive dementia, making early recognition essential, particularly to exclude potentially reversible conditions. This review provides an updated overview of the diagnostic tools, cerebrospinal fluid (CSF) biomarkers, prognostic factors, clinical progression, differential diagnosis, and current management strategies in sCJD. A literature-based review was conducted using PubMed and Scopus for articles published between October 1, 2015, and October 1, 2025, focusing on patients with suspected or confirmed CJD. Clinical features, magnetic resonance imaging (MRI), electroencephalography (EEG), CSF biomarkers, prognostic indicators, and therapeutic approaches were synthesized. Current diagnosis of sCJD relies on the integration of clinical presentation with MRI, EEG, and CSF testing. Diffusion-weighted MRI and real-time quaking-induced conversion (RT-QuIC) have substantially improved antemortem diagnostic accuracy, while traditional biomarkers such as 14-3-3 protein and total tau remain useful supportive tests. Prognosis is uniformly poor, with median survival usually limited to a few months, although disease course varies according to age, PRNP codon 129 polymorphism, and molecular subtype. Important differential diagnoses include autoimmune encephalitis, viral encephalitis, vascular cognitive impairment, and other neurodegenerative disorders presenting with rapidly progressive dementia. No disease-modifying therapy has shown definitive benefit, and management remains primarily supportive and symptom-directed. Advances in biomarkers and greater understanding of molecular heterogeneity may improve early diagnosis, prognostication, and future therapeutic development.

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PubMed
Published
2026-10-04
Primary Topic
Prion Diseases and Protein Misfolding
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article
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article

SPORADIC CREUTZFELDT-JAKOB DISEASE: CLINICAL FEATURES, DIAGNOSIS AND THERAPEUTIC HORIZONS.

N Shala, R Jashari, A Shala, B Jashari et al.
PubMed
Prion Diseases and Protein Misfolding
article

SPORADIC CREUTZFELDT-JAKOB DISEASE: CLINICAL FEATURES, DIAGNOSIS AND THERAPEUTIC HORIZONS.

N Shala, R Jashari, A Shala, B Jashari, F Jashari
article en

Abstract

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare, rapidly progressive, and fatal prion disease that remains a major diagnostic and therapeutic challenge. Its presentation often overlaps with other causes of rapidly progressive dementia, making early recognition essential, particularly to exclude potentially reversible conditions. This review provides an updated overview of the diagnostic tools, cerebrospinal fluid (CSF) biomarkers, prognostic factors, clinical progression, differential diagnosis, and current management strategies in sCJD. A literature-based review was conducted using PubMed and Scopus for articles published between October 1, 2015, and October 1, 2025, focusing on patients with suspected or confirmed CJD. Clinical features, magnetic resonance imaging (MRI), electroencephalography (EEG), CSF biomarkers, prognostic indicators, and therapeutic approaches were synthesized. Current diagnosis of sCJD relies on the integration of clinical presentation with MRI, EEG, and CSF testing. Diffusion-weighted MRI and real-time quaking-induced conversion (RT-QuIC) have substantially improved antemortem diagnostic accuracy, while traditional biomarkers such as 14-3-3 protein and total tau remain useful supportive tests. Prognosis is uniformly poor, with median survival usually limited to a few months, although disease course varies according to age, PRNP codon 129 polymorphism, and molecular subtype. Important differential diagnoses include autoimmune encephalitis, viral encephalitis, vascular cognitive impairment, and other neurodegenerative disorders presenting with rapidly progressive dementia. No disease-modifying therapy has shown definitive benefit, and management remains primarily supportive and symptom-directed. Advances in biomarkers and greater understanding of molecular heterogeneity may improve early diagnosis, prognostication, and future therapeutic development.

PubMed(376-377)
University Clinical Center of Kosovo (XK), University of Prishtina (XK)
Openalex Percentile: Top 21%
Prion Diseases and Protein Misfolding
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SPORADIC CREUTZFELDT-JAKOB DISEASE: CLINICAL FEATURES, DIAGNOSIS AND THERAPEUTIC HORIZONS. — N Shala, R Jashari, et al. · PubMed (2026) | TGRS Research Map | TGRS