cjd

What is CJD?

Classic CJD is a human prion disease and neurodegenerative disorder. It is rapidly progressive and always fatal typically within 1 year of illness. It is caused by an abnormal prion. In about 85% of patients, it is a sporadic disease with unknown transmission. In about 5-15% of patients, it is caused by inherited mutated prions.

Variant CJD (vCJD) is caused by consuming BSE-contaminated products that probably would have been consumed years or decades earlier. It typically affects younger people. Not very much is known about vCDJ, as it is a newer disease.

How common is CJD?

CJD is found worldwide, and has been reported in about 1 person per 1 million population.

What is the diagnosis for CJD?

1. Sporadic CJD

Definite:

Diagnosed by standard neuropathological techniques; and/or immunocytochemically; and/or Western blot confirmed protease-resistant PrP; and /or presence of scrapie-associated fibrils.

Probable:

Rapidly progressive dementia; and at least two out of the following four clinical features:

  1. Myoclonus
  2. Visual or cerebellar signs
  3. Pyramidal/extrapyramidal signs
  4. Akinetic mutism

AND a positive result on at least one of the following laboratory tests:

  • a typical EEG (periodic sharp wave complexes) during an illness of any duration; and/or
  • a positive 14-3-3 cerebrospinal fluid (CSF) assay in patients with a disease duration of less than 2 years
  • Magnetic resonance imaging (MRI) high signal abnormalities in caudate nucleus and/or putamen on diffusion-weighted imaging (DWI) or fluid attenuated inversion recovery (FLAIR)

AND without routine investigations indicating an alternative diagnosis.

Possible:

Progressive dementia; and at least two out of the following four clinical features:

  1. Myoclonus
  2. Visual or cerebellar signs
  3. Pyramidal/extrapyramidal signs
  4. Akinetic mutism

AND the absence of a positive result for any of the three laboratory tests that would classify a case as “probable” (see tests a-c above)
AND duration of illness less than two years
AND without routine investigations indicating an alternative diagnosis.

2. Iatrogenic CJD

Progressive cerebellar syndrome in a recipient of human cadaveric-derived pituitary hormone; or sporadic CJD with a recognized exposure risk, e.g., antecedent neurosurgery with dura mater implantation.

3. Familial CJD

Definite or probable CJD plus definite or probable CJD in a first degree relative; and/or Neuropsychiatric disorder plus disease-specific PrP gene mutation.

What are the treatment options for persons with CJD?

Unfortunately, there has been no specific treatment shown to stop the progression of prion diseases.

For more information on CJD, visit http://www.cdc.gov/prions/cjd/index.html.