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A rare sporadic human prion disease characterized by rapidly progressive cognitive impairment in combination with variable neurologic signs and symptoms including myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, or akinetic mutism. Brain imaging may show high signal intensity in caudate, putamen, and/or cortical regions, and a typical EEG pattern consisting of generalized periodic sharp wave complexes is observed in many cases. The disease is invariably fatal within less than two years. Neuropathologic examination reveals deposition of abnormal prion protein in brain tissue, as well as spongiform change and massive neuronal loss and gliosis.
Features include very common findings: Progressive loss of mental abilities (dementia), Neuronal loss in central nervous system, Cerebral cortex with spongiform changes, and Akinetic mutism and others; and common findings: Atypical behavior, Ataxia, Confusion, and Sudden, brief involuntary muscle jerks (myoclonus) and others. 28 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 16 |
Biomarker and diagnostic research for sporadic Creutzfeldt-Jakob disease has been reported in the published literature.
Phenotype severity distribution: 5 very common features, 16 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for sporadic Creutzfeldt-Jakob disease.
119 publications have been identified in PubMed for sporadic Creutzfeldt-Jakob disease. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (19%), and Diagnostic / Biomarker (13%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 42 | 43% |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:52 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Muscles | 2 | Brain shrinkage (cerebral atrophy), Hyperactive deep tendon reflexes |
Lungs and breathing | 2 | Recurrent aspiration pneumonia, Respiratory failure requiring assisted ventilation |
Blood and immune system | 1 | Recurrent infections |
Lab test results | 1 | Increased CSF protein concentration |
Eyes | 1 | Visual impairment |
Laboratory research
19 |
19% |
Testing and diagnosis research | 13 | 13% |
Research summaries | 8 | 8% |
Disease patterns and progression | 8 | 8% |
Other research | 4 | 4% |
Clinical study results | 4 | 4% |
Balash Y (2026). [PMID: 41785192](https://pubmed.ncbi.nlm.nih.gov/41785192/). *Dement Geriatr Cogn Disord*. [Diagnostic / Biomarker]
Akanuma H (2026). [PMID: 41873290](https://pubmed.ncbi.nlm.nih.gov/41873290/). *Cureus*. [Case Report / Case Series]
Li L (2026). [PMID: 41894154](https://pubmed.ncbi.nlm.nih.gov/41894154/). *Prion*. [Case Report / Case Series]
Laohapiboolrattana W (2026). [PMID: 41773703](https://pubmed.ncbi.nlm.nih.gov/41773703/). *Clin EEG Neurosci*. [Diagnostic / Biomarker]
Williams K (2026). [PMID: 41678282](https://pubmed.ncbi.nlm.nih.gov/41678282/). *J Clin Invest*. [Basic Science / Preclinical]
Alammar H (2026). [PMID: 41989831](https://pubmed.ncbi.nlm.nih.gov/41989831/). *Cogn Behav Neurol*. [Case Report / Case Series]
Zitser J (2026). [PMID: 40152909](https://pubmed.ncbi.nlm.nih.gov/40152909/). *Brain*. [Clinical Trial Publication]
Guo W (2026). [PMID: 41526067](https://pubmed.ncbi.nlm.nih.gov/41526067/). *BMJ Case Rep*. [Case Report / Case Series]
Baiardi S (2026). [PMID: 41424290](https://pubmed.ncbi.nlm.nih.gov/41424290/). *Ann Neurol*. [Basic Science / Preclinical]
Ponczek MM (2026). [PMID: 41982583](https://pubmed.ncbi.nlm.nih.gov/41982583/). *Cureus*. [Case Report / Case Series]
AI-curated news mentioning sporadic Creutzfeldt-Jakob disease
Updated Jul 13, 2026
A new case report on sporadic Creutzfeldt-Jakob disease has been published, contributing to the understanding of this rare neurodegenerative disorder. The findings may provide insights into disease mechanisms and potential therapeutic approaches.
A recent case report details the clinical analysis of three patients diagnosed with sporadic Creutzfeldt-Jakob disease, contributing to the understanding of this rare neurodegenerative disorder. The findings may provide insights into disease progression and patient management.