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variant Creutzfeldt-Jakob disease (vCJD)
Etiology:
1) ingestion of contaminated meat
2) caused by same prion strain that causes bovine spongiform encephalopathy (mad cow disease)
3) associated with type 4 PrPSc
Epidemiology:
-> age range 16-51 years, mean 29 years
Pathology:
- 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
Genetics:
-> homozygous for methionine at codon 129 of prion gene (seen in all patients to date of 2001[1])
Clinical manifestations:
1) much earlier age of onset*
2) early manifestations*
- behavioral & psychiatric disturbances predominate*
- depression
- anxiety
- social withdrawal
- delusions
- emotional lability
- aggression
- insomnia
- auditory & visual hallucinations
- sensory changes - dysesthesias or pain in limbs & face*
2) neurologic manifestations are delayed*
- progressive cerebellar syndrome
- gait & limb ataxia
- myoclonus, dystonia
- chorea some cases
- dementia - later in course of disease
3) rapid progression (median duration 13-14 months) [2]
* distinguishing features from classic CJD
Laboratory:
- 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:
- EEG does not show typical pattern of Creutzfeldt Jakob disease
Radiology:
-> MRI: bilateral pulvinar high signal NOT observed with classic CJD
General
Creutzfeldt-Jakob [CJ] disease
References
- Collinge J.
Prion diseases of humans and animals: their causes and molecular basis.
Annu Rev Neurosci 24:519-50, 2001
PMID: 11283320
- 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
PMID: 14712176
http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5253a2.htm
- Medical Knowledge Self Assessment Program (MKSAP) 15,
American College of Physicians, Philadelphia 2009