sporadic Creutzfeldt-Jakob disease
Findings
No curated finding names sporadic Creutzfeldt-Jakob disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0016079), read 2026-09-29. CC BY 4.0.
Features
37 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Akinetic mutismHPOHP:0012672
- Very frequent (80% to 99% of cases)
- Cerebral cortex with spongiform changesHPOHP:0006790
- Very frequent (80% to 99% of cases)
- DementiaHPOHP:0000726
- Very frequent (80% to 99% of cases)
- Hyperintensity of cerebral white matter on MRIHPOHP:0030890
- Very frequent (80% to 99% of cases)
- Neuronal loss in central nervous systemHPOHP:0002529
- Very frequent (80% to 99% of cases)
- AstrocytosisHPOHP:0002446
- Frequent (30% to 79% of cases)
Show the remaining 25
- HypsarrhythmiaHPOHP:0002521
- Frequent (30% to 79% of cases)
- Increased CSF protein concentrationHPOHP:0002922
- Frequent (30% to 79% of cases)
- Memory impairmentHPOHP:0002354
- Frequent (30% to 79% of cases)
- MyoclonusHPOHP:0001336
- Frequent (30% to 79% of cases)
- Recurrent aspiration pneumoniaHPOHP:0002100
- Frequent (30% to 79% of cases)
- Recurrent infectionsHPOHP:0002719
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: sporadic Creutzfeldt-Jakob disease
- Also called
- sporadic CJD