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]
Overview
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.
Classification
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
- Iatrogenic CJ[4]
- Very rare: only occasional cases with exceptionally long incubation periods are still appearing.
- The principal sources of these outbreaks are:[4][5]
- Contaminated growth hormone derived from human cadavers with undiagnosed CJD infections
- Contaminated dura mater grafts
- Neurosurgical instrument contamination
- Corneal grafts
- Gonadotrophic hormone
- Transfusion of blood products
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 |
|---|---|---|---|
| Myoclonic, Heidenhan variants |
MM1 or MV1 | Rapidly progressive dementia Myoclonus 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 Dementia 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 Hyperactivity Ataxia 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]
References
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 4.0 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.
- ↑ "http://www.cdc.gov/ncidod/dvrd/cjd/qa_cjd_infection_control.htm". Retrieved 14 February 2014. External link in
|title=(help) - ↑ 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) - ↑ Belay ED, Schonberger LB (2002). "Variant Creutzfeldt-Jakob disease and bovine spongiform encephalopathy". Clin Lab Med. 22 (4): 849–62, v–vi. PMID 12489284.