Sporadic Creutzfeldt-Jakob disease
Synonyms: Sporadic CJD
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Sporadic Creutzfeldt-Jakob disease?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Creutzfeldt – Jakob Foundation Israel
Our mission is to advance the research for the treatment and prevention of Creutzfeldt-Jakob disease (CJD), a neurodegenerative, rare, and fatal disease, that causes rapid deterioration and certain death (in a couple of months). We aim to accelerate research by founding a database and biobank of our families and genetic patients for researchers worldwide in a collaborative way.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Clinical Trials
For a list of clinical trials in this disease area, please click here.