variant Creutzfeldt-Jakob disease (vCJD)

^[1]^[2]^[3]

Etiology

ingestion of contaminated meat
caused by same prion strain that causes bovine spongiform encephalopathy (mad cow disease)
associated with type 4 PrPSc

brain:
- widespread spongiform change, gliosis & neuronal loss
- changes most severe in basal ganglia & thalamus
- abundant PrP amyloid plaques in cerebral & cerebellar cortex
other:
- PrPSc consistently found in lymphoreticular system in vCJD but not other Creutzfeldt Jakob disease
- requires B-lymphocytes for transmission

homozygous for methionine at codon 129 of prion gene (seen in all patients to date of 2001[1])

much earlier age of onset*
early manifestations*
- behavioral & psychiatric disturbances predominate*
- sensory changes - dysesthesias or pain in limbs & face*
neurologic manifestations are delayed*
- progressive cerebellar syndrome
  - gait & limb ataxia
- myoclonus, dystonia
- chorea some cases
- dementia - later in course of disease
rapid progression (median duration 13-14 months)^[2]

* distinguishing features from classic CJD

palatine tonsillar biopsy reveals PrPSc
- PrP immunostaining & PrPSc on Western blot in tonsil biopsy makes diagnosis*

* PrPSc NOT seen in lymph tissue in classic CJD^[2] Special laborator:

↑ Collinge J. Prion diseases of humans and animals: their causes and molecular basis. Annu Rev Neurosci 24:519-50, 2001 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11283320
↑ ^2.0 ^2.1 ^2.2 Journal Watch 24(4):32, 2004 Centers for Disease Control and Prevention (CDC) Bovine spongiform encephalopathy in a dairy cow-- Washington state, 2003. MMWR Morb Mortal Wkly Rep 52:1280, 2004 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/14712176 <Internet> http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5253a2.htm
↑ Medical Knowledge Self Assessment Program (MKSAP) 15, American College of Physicians, Philadelphia 2009