[Hans Gerhard Creutzfeldt (1885–1964), German neuropathologist and director of the university psychiatric and neurological division in Kiel]

[Alfons Maria Jakob (1884–1931), German neurologist and head of the laboratory of anatomical pathology at the psychiatric State Hospital Hamburg-Friedrichsberg]

= rare subacutely progressive neurological disorder due to transmissible infectious disease developing over weeks

Cause: “prion” (self-replicating proteinaceous infectious particles) = protein devoid of functional nucleic acid converted to proteinaceous infectious scrapie particles that accumulate in + around neurons leading to cell death; kuru among aboriginal Fore people of New Guinea (ritualistic oral ingestion of body parts)

[scrapie = affected animals compulsively scrape off their fleece against rocks, trees or fences]

Iatrogenic causes: corneal transplantation, ingestion of prion-contaminated human growth hormone, transplantation of cadaveric dura mater

Age: older adults (57–73 years)

Histo: classified as spongiform encephalopathy “mad cow disease”

• rapidly progressive dementia, ataxia, generalized myoclonus
• synchronous discharges on EEG as generalized periodic sharp wave complexes (in 60%)
• CSF protein 14-3-3 (96% specific + 96% sensitive)

Subtypes: sporadic, familial, iatrogenic, variant

Location: cerebral cortex, basal ganglia (caudate nucleus), thalamus

CT:

• usually normal
• rapidly progressive atrophic changes

MR:

• hyperintense T2 lesions in basal ganglia (head of caudate nucleus + putamen), occipital cortex, bilaterally (79% sensitive)
• high-SI lesions on DWI (← vacuolization of neutrophil leading to gliosis + astrocytosis and restriction of water diffusion) + decreased ADC (94% sensitive, 92% specific):
  Location: cerebral cortex, basal ganglia
  • restricted diffusion is more sensitive than T2-FLAIR, especially for cortical lesions ← spongiform neuronal degeneration
  • “pulvinar” sign / “hockey stick” sign = T2 prolongation + restricted diffusion in medial thalamus
• NO gadolinium enhancement of lesions
• NO white matter involvement

Dx: brain biopsy

Prognosis: usually fatal within 2 year of onset of symptoms (mean, 8.8 months)