Creutzfeldt-Jakob disease classification

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: , Mohamadmostafa Jahansouz M.D.[2]


Creutzfeldt-Jakob disease may be classified into four groups: Sporadic CJD, familial CJD and iatrogenic CJ. Sporadic CJD is the most common type and is idiopathic. Familial CJD is caused by inheritance of abnormal prions and is exceptionally rare. Iatrogenic CJ is very rare and the principal sources of outbreaks are: contaminated growth hormone derived from human cadavers with undiagnosed CJD infections, contaminated dura mater grafts, neurosurgical instrument contamination, corneal grafts, gonadotrophic hormone and transfusion of blood products.


Creutzfeldt-Jakob disease may be classified into four groups:[1]

  • Sporadic CJD[2]
    • Most common, idiopathic
    • Average age of onset is approximately 65 years
  • Familial CJD[3]
    • Inheritance of abnormal prion
    • Exceptionally rare

Sporadic CJD (sCJD) may be classified based on molecular and phenotypic features into the following subtypes:[6]

Previous Classification sCJD Variants Clinical Features Neuropathological Features
Heidenhan variants
MM1 or MV1 Rapidly progressive dementia
Altered vision
Unilateral signs in beginning
Typical EEG findings
Occipital cortex involvement
Confluent vacuoles
Perivacuolar PrP staining
Ataxic variant VV2 Ataxia in early stage
Dementia in later stages
Typical EEG findings absent
Brain-stem nuclei and
subcortical areas are affected
Perinuclear PrP staining
Plaque like focal Prp deposits
Kuru-plaques variant MV2 Ataxia
Typical EEG findings absent
Longer duration (>2 yrs) compared to other variants
Amyloid-kuru plaques in cerebellum
Plaque like focal PrP deposits
Thalamic variant MM2 (thalamic) Insomnia
Cognitive impairment
Typical EEG findings absent
Thalamic and inferior olive atrpohy
Spongiosis could be absent
Lower amount of PrP staining
MM2 (cortical) Dementia
Typical EEG findings are absent
Large confluent vacuoles
Perivacuolar PrP staining
All layers of cortex are affected
VV1 Dementia
Typical EEG finding are absent
Diffuse cortical involvement
along with straitum
Cerebellum is spared
No large confluent vacuoles are present
Lower amount of PrP staining

Abbreviations: PrP=Prion protein
MM, VV and MV are genotypes of PrP
MM1: MM genotype type 1 (M:Methionine;V:Valine), MV1:MV genotype type 1, VV2:VV genotype type 2, MV2:MV genotype type 2
Type 1 and type 2 are based on the molecular mass of PrP, type 1: 19 kd, type 2: 21kd

Distinction Between Classic and Variant Creutzfeldt-Jakob disease

The following table demonstrates distinguishing features for classic and variant Creutzfeldt-Jakob disease:

Characteristic Classic CJD Variant CJD
Median age at death 68 years 28 years
Median duration of symptoms 4 to 5 months 13 to 14 months
Common clinical manifestations Dementia, early neurologic signs Psychiatric symptoms, painful dyesthesiasis, delayed neurological signs
Periodic sharp waves on EEG Present Absent
"Pulvinar sign" on MRI Not reported Usually present
"Florid plaques" on neuropathology Rare / absent Abundant
Immunohistochemical analysis of brain tissue Variable accumulation Marked accumulation of protease-resistance prion protein
Agent in lymphoid tissue Not detected Detected
Glycoform ratioo on immunoblot analysis of protease-resistance prion protein Not reported Marked accumulation of protease-resistance prion protein

Adapted from Belay E. Schonberger L. Variant Creutzfeldt-Jakob disease and bovine spongiform encephalopathy. Clin Lab Med. 2002;22:849-62.[7]


  1. Sikorska B, Knight R, Ironside JW, Liberski PP (2012). "Creutzfeldt-Jakob disease". Adv Exp Med Biol. 724: 76–90. doi:10.1007/978-1-4614-0653-2_6. PMID 22411235.
  2. Sharma S, Mukherjee M, Kedage V, Muttigi MS, Rao A, Rao S (2009). "Sporadic Creutzfeldt-Jakob disease--a review". Int J Neurosci. 119 (11): 1981–94. PMID 19863257.
  3. Clift K, Guthrie K, Klee EW, Boczek N, Cousin M, Blackburn P; et al. (2016). "Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing". Prion. 10 (6): 502–506. doi:10.1080/19336896.2016.1254858. PMC 5161295. PMID 27929804.
  4. 4.0 4.1 Brown P, Brandel JP, Sato T, Nakamura Y, MacKenzie J, Will RG; et al. (2012). "Iatrogenic Creutzfeldt-Jakob disease, final assessment". Emerg Infect Dis. 18 (6): 901–7. doi:10.3201/eid1806.120116. PMC 3358170. PMID 22607808.
  5. "". Retrieved 14 February 2014. External link in |title= (help)
  6. Parchi, P.; Giese, A.; Capellari, S.; Brown, P.; Schulz-Schaeffer, W.; Windl, O.; Zerr, I.; Budka, H.; Kopp, N. (1999). "Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects". Ann Neurol. 46 (2): 224–33. PMID 10443888. Unknown parameter |month= ignored (help)
  7. Belay ED, Schonberger LB (2002). "Variant Creutzfeldt-Jakob disease and bovine spongiform encephalopathy". Clin Lab Med. 22 (4): 849–62, v–vi. PMID 12489284.

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