Creutzfeldt-Jakob disease classification: Difference between revisions
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==Overview== | ==Overview== | ||
Creutzfeldt-Jakob disease may be classified into four groups: '''Sporadic CJD,''' '''familial CJD,''' '''iatrogenic CJ''' and '''variant CJD.''' | |||
==Classification== | ==Classification== | ||
Creutzfeldt-Jakob disease may be classified into four groups:<ref name="pmid22411235">{{cite journal| author=Sikorska B, Knight R, Ironside JW, Liberski PP| title=Creutzfeldt-Jakob disease. | journal=Adv Exp Med Biol | year= 2012 | volume= 724 | issue= | pages= 76-90 | pmid=22411235 | doi=10.1007/978-1-4614-0653-2_6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22411235 }} </ref> | Creutzfeldt-Jakob disease may be classified into four groups:<ref name="pmid22411235">{{cite journal| author=Sikorska B, Knight R, Ironside JW, Liberski PP| title=Creutzfeldt-Jakob disease. | journal=Adv Exp Med Biol | year= 2012 | volume= 724 | issue= | pages= 76-90 | pmid=22411235 | doi=10.1007/978-1-4614-0653-2_6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22411235 }} </ref> | ||
* '''Sporadic CJD'''<ref name="pmid19863257">{{cite journal| author=Sharma S, Mukherjee M, Kedage V, Muttigi MS, Rao A, Rao S| title=Sporadic Creutzfeldt-Jakob disease--a review. | journal=Int J Neurosci | year= 2009 | volume= 119 | issue= 11 | pages= 1981-94 | pmid=19863257 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19863257 }} </ref> | * '''Sporadic CJD'''<ref name="pmid19863257">{{cite journal| author=Sharma S, Mukherjee M, Kedage V, Muttigi MS, Rao A, Rao S| title=Sporadic Creutzfeldt-Jakob disease--a review. | journal=Int J Neurosci | year= 2009 | volume= 119 | issue= 11 | pages= 1981-94 | pmid=19863257 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19863257 }} </ref> | ||
** Most common, idiopathic | ** Most common, [[idiopathic]] | ||
** Average age of onset is approximately 65 years | ** Average age of onset is approximately 65 years | ||
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* '''Iatrogenic CJ'''<ref name="pmid22607808">{{cite journal| author=Brown P, Brandel JP, Sato T, Nakamura Y, MacKenzie J, Will RG et al.| title=Iatrogenic Creutzfeldt-Jakob disease, final assessment. | journal=Emerg Infect Dis | year= 2012 | volume= 18 | issue= 6 | pages= 901-7 | pmid=22607808 | doi=10.3201/eid1806.120116 | pmc=3358170 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22607808 }} </ref> | * '''Iatrogenic CJ'''<ref name="pmid22607808">{{cite journal| author=Brown P, Brandel JP, Sato T, Nakamura Y, MacKenzie J, Will RG et al.| title=Iatrogenic Creutzfeldt-Jakob disease, final assessment. | journal=Emerg Infect Dis | year= 2012 | volume= 18 | issue= 6 | pages= 901-7 | pmid=22607808 | doi=10.3201/eid1806.120116 | pmc=3358170 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22607808 }} </ref> | ||
**Very rare: only occasional cases with exceptionally long incubation periods are still appearing. | **Very rare: only occasional cases with exceptionally long incubation periods are still appearing. | ||
**The principal sources of these outbreaks are:<ref name="pmid22607808">{{cite journal| author=Brown P, Brandel JP, Sato T, Nakamura Y, MacKenzie J, Will RG et al.| title=Iatrogenic Creutzfeldt-Jakob disease, final assessment. | journal=Emerg Infect Dis | year= 2012 | volume= 18 | issue= 6 | pages= 901-7 | pmid=22607808 | doi=10.3201/eid1806.120116 | pmc=3358170 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22607808 }} </ref> | **The principal sources of these outbreaks are:<ref name="pmid22607808">{{cite journal| author=Brown P, Brandel JP, Sato T, Nakamura Y, MacKenzie J, Will RG et al.| title=Iatrogenic Creutzfeldt-Jakob disease, final assessment. | journal=Emerg Infect Dis | year= 2012 | volume= 18 | issue= 6 | pages= 901-7 | pmid=22607808 | doi=10.3201/eid1806.120116 | pmc=3358170 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22607808 }} </ref><ref name="www.cdc.gov">{{Cite web | last = | first = | title = http://www.cdc.gov/ncidod/dvrd/cjd/qa_cjd_infection_control.htm | url = http://www.cdc.gov/ncidod/dvrd/cjd/qa_cjd_infection_control.htm | publisher = | date = | accessdate = 14 February 2014 }}</ref> | ||
***Contaminated growth hormone derived from human cadavers with undiagnosed CJD infections | ***Contaminated [[growth hormone]] derived from human cadavers with undiagnosed CJD infections | ||
***Contaminated dura mater grafts | ***Contaminated [[dura mater]] grafts | ||
***Neurosurgical instrument contamination | ***[[Neurosurgery|Neurosurgical]] instrument contamination | ||
***Corneal grafts | ***[[Corneal graft|Corneal grafts]] | ||
***Gonadotrophic hormone | ***[[Gonadotrophic|Gonadotrophic hormone]] | ||
***Transfusion of blood products | ***[[Blood transfusion|Transfusion of blood]] products | ||
* '''Variant CJD'''<ref name="pmid25495404">{{cite journal| author=Diack AB, Head MW, McCutcheon S, Boyle A, Knight R, Ironside JW et al.| title=Variant CJD. 18 years of research and surveillance. | journal=Prion | year= 2014 | volume= 8 | issue= 4 | pages= 286-95 | pmid=25495404 | doi=10.4161/pri.29237 | pmc=4601215 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25495404 }} </ref> | * '''Variant CJD'''<ref name="pmid25495404">{{cite journal| author=Diack AB, Head MW, McCutcheon S, Boyle A, Knight R, Ironside JW et al.| title=Variant CJD. 18 years of research and surveillance. | journal=Prion | year= 2014 | volume= 8 | issue= 4 | pages= 286-95 | pmid=25495404 | doi=10.4161/pri.29237 | pmc=4601215 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25495404 }} </ref> | ||
** Variant CJD, results from transmission of bovine spongiform encephalopathy (BSE) from cattle to humans.<ref name="pmid22411235">{{cite journal| author=Sikorska B, Knight R, Ironside JW, Liberski PP| title=Creutzfeldt-Jakob disease. | journal=Adv Exp Med Biol | year= 2012 | volume= 724 | issue= | pages= 76-90 | pmid=22411235 | doi=10.1007/978-1-4614-0653-2_6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22411235 }} </ref> | ** Variant CJD, results from transmission of [[bovine spongiform encephalopathy]] (BSE) from cattle to humans.<ref name="pmid22411235">{{cite journal| author=Sikorska B, Knight R, Ironside JW, Liberski PP| title=Creutzfeldt-Jakob disease. | journal=Adv Exp Med Biol | year= 2012 | volume= 724 | issue= | pages= 76-90 | pmid=22411235 | doi=10.1007/978-1-4614-0653-2_6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22411235 }} </ref> | ||
Sporadic CJD (sCJD) may be classified based on molecular and phenotypic features into the following subtypes<ref name="Parchi-1999">{{Cite journal | last1 = Parchi | first1 = P. | last2 = Giese | first2 = A. | last3 = Capellari | first3 = S. | last4 = Brown | first4 = P. | last5 = Schulz-Schaeffer | first5 = W. | last6 = Windl | first6 = O. | last7 = Zerr | first7 = I. | last8 = Budka | first8 = H. | last9 = Kopp | first9 = N. | title = Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. | journal = Ann Neurol | volume = 46 | issue = 2 | pages = 224-33 | month = Aug | year = 1999 | doi = | PMID = 10443888 }}</ref> | Sporadic CJD (sCJD) may be classified based on molecular and phenotypic features into the following subtypes:<ref name="Parchi-1999">{{Cite journal | last1 = Parchi | first1 = P. | last2 = Giese | first2 = A. | last3 = Capellari | first3 = S. | last4 = Brown | first4 = P. | last5 = Schulz-Schaeffer | first5 = W. | last6 = Windl | first6 = O. | last7 = Zerr | first7 = I. | last8 = Budka | first8 = H. | last9 = Kopp | first9 = N. | title = Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. | journal = Ann Neurol | volume = 46 | issue = 2 | pages = 224-33 | month = Aug | year = 1999 | doi = | PMID = 10443888 }}</ref> | ||
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Revision as of 16:46, 19 October 2018
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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, iatrogenic CJ and variant CJD.
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
- Variant CJD[6]
- Variant CJD, results from transmission of bovine spongiform encephalopathy (BSE) from cattle to humans.[1]
Sporadic CJD (sCJD) may be classified based on molecular and phenotypic features into the following subtypes:[7]
| 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.[8]
References
- ↑ 1.0 1.1 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.
- ↑ 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) - ↑ Diack AB, Head MW, McCutcheon S, Boyle A, Knight R, Ironside JW; et al. (2014). "Variant CJD. 18 years of research and surveillance". Prion. 8 (4): 286–95. doi:10.4161/pri.29237. PMC 4601215. PMID 25495404.
- ↑ 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.