Fact-sheet: Jakob-creutzfeldt disease
Updated on 10/04/2019 at 9:34 AM
View all RADEOS cases associated with this fact-sheet
Definition
Jakob-creutzfeldt disease (JCD) is the most common human transmissible spongiform encephalopathy (TSE) but remains a rare disease, with just over 100 cases per year in France.
It leads to degeneration of the nervous system, without inflammatory or immune reaction, with accumulation of an abnormal isoform of the prion protein (PrP).
There are 3 distinct forms:
- Sporadic form: (80%) first described in 1920 (1.5 cases per million population, about a hundred cases per year in France)
- Genetic form: (10-15%) autosomal dominant transmission with variable penetrance, related to mutations or insertions in the PRNP gene encoding the prion protein, located on chromosome 20
- Acquired form: through inoculation of the infectious agent via 2 routes:
* Cerebral proximity (corneal or dural grafts, insufficiently sterilized electrodes or instruments)
* Peripheral route (oral route (Kuru, vJCD) or growth hormone injection)
Clinical features
- Rapidly progressive cognitive impairment +++
* Memory
* Aphasia
* Apraxia
* Apathy - Cerebellar or extrapyramidal syndrome
- Myoclonus
- Visual disturbances (cortical blindness, hallucinations)
- Progresses to akinetic mutism, then death
Laboratory findings
Lumbar puncture with testing for 14-3-3 protein
EEG: pseudo-periodic bi- or triphasic abnormalities
MRI
On PD, diffusion T2, and T2 FLAIR sequences: bilateral +/- symmetric hyperintensity within the basal ganglia and cortex.
Progression to:
- Cortical and subcortical atrophy
- Marked atrophy of the basal ganglia associated with T2 and T2 FLAIR hyperintensities of the deep white matter
Management
No specific treatment currently available
Palliative management
Notifiable disease
