Creutzfeldt-Jakob disease classification: Difference between revisions

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Latest revision as of 19:45, 7 July 2020

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.

Template:WikiDoc Sources

[pmid22411235-1] 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.

[pmid19863257-2] 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.

[pmid27929804-3] 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.

[pmid22607808-4] 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.

[www.cdc.gov-5] "http://www.cdc.gov/ncidod/dvrd/cjd/qa_cjd_infection_control.htm". Retrieved 14 February 2014. External link in |title= (help)

[Parchi-1999-6] 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)

[pmid12489284-7] Belay ED, Schonberger LB (2002). "Variant Creutzfeldt-Jakob disease and bovine spongiform encephalopathy". Clin Lab Med. 22 (4): 849–62, v–vi. PMID 12489284.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

@@ Line 2: / Line 2: @@
 {{Creutzfeldt-Jakob disease}}
-{{CMG}}; {{AE}} {{MMJ}}
+{{CMG}}; {{AE}}, {{MMJ}}
 ==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, [[Neurosurgery|neurosurgical]] instrument contamination, [[Corneal graft|corneal grafts]], [[Gonadotrophic|gonadotrophic hormone]] and [[Blood transfusion|transfusion of blood]] products.
 ==Classification==
-Creutzfeldt-Jakob disease may be classified into three groups:
+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'''
+* '''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
-* '''Familial CJD'''
+* '''Familial CJD'''<ref name="pmid27929804">{{cite journal| author=Clift K, Guthrie K, Klee EW, Boczek N, Cousin M, Blackburn P et al.| title=Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing. | journal=Prion | year= 2016 | volume= 10 | issue= 6 | pages= 502-506 | pmid=27929804 | doi=10.1080/19336896.2016.1254858 | pmc=5161295 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27929804  }} </ref>
 **Inheritance of abnormal prion
 **Exceptionally rare
-* '''Iatrogenic CJ'''
+* '''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>
-OR
+**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><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>
-[Disease name] may be classified into [large number > 6] subtypes based on:
+***Contaminated [[growth hormone]] derived from human cadavers with undiagnosed CJD infections
-*[Classification method 1]
+***Contaminated [[dura mater]] grafts
-*[Classification method 2]
+***[[Neurosurgery|Neurosurgical]] instrument contamination
-*[Classification method 3]
+***[[Corneal graft|Corneal grafts]]
+***[[Gonadotrophic|Gonadotrophic hormone]]
-[Disease name] may be classified into several subtypes based on:
+***[[Blood transfusion|Transfusion of blood]] products
-*[Classification method 1]
-*[Classification method 2]
-*[Classification method 3]
-OR
-Based on the duration of symptoms, [disease name] may be classified as either acute or chronic.
-OR
-'''If the staging system involves specific and characteristic findings and features:'''
-According to the [staging system + reference], there are [number] stages of [malignancy name] based on the [finding1], [finding2], and [finding3]. Each stage is assigned a [letter/number1] and a [letter/number2] that designate the [feature1] and [feature2].
-OR
-The staging of [malignancy name] is based on the [staging system].
-OR
-There is no established system for the staging of [malignancy name].
-==Classification==
-*Associated with the use of contaminated human growth hormone, dura mater and corneal grafts, or neurosurgical equipment.<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>
-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>
 {| class="wikitable"
 |-
-|'''Previous Classification'''||'''sCJD Variants'''||'''Clinical Features'''||'''Neuropathological Features'''
+! align="center" style="background:#4479BA; color: #FFFFFF;" + |'''Previous Classification'''
+! align="center" style="background:#4479BA; color: #FFFFFF;" + |'''sCJD Variants'''
+! align="center" style="background:#4479BA; color: #FFFFFF;" + |'''Clinical Features'''
+! align="center" style="background:#4479BA; color: #FFFFFF;" + |'''Neuropathological Features'''
 |-
 |Myoclonic,<br> Heidenhan variants ||MM1 or MV1 ||Rapidly progressive [[dementia]]<br>[[Myoclonus]]<br>Altered vision<br>Unilateral signs in beginning<br>Typical [[EEG]] findings ||[[Occipital lobe|Occipital cortex]] involvement<br>Confluent vacuoles<br>Perivacuolar PrP staining
@@ Line 84: / Line 58: @@
 {| style="border:#c9c9c9 1px solid; margin: 1em 1em 1em 0; border-collapse: collapse;" cellspacing="0" cellpadding="4" {{table}}
-| style="background:#f0f0f0;" align="center" |'''Characteristic'''
+! align="center" style="background:#4479BA; color: #FFFFFF;" + |'''Characteristic'''
-| style="background:#f0f0f0;" align="center" |'''Classic CJD'''
+! align="center" style="background:#4479BA; color: #FFFFFF;" + |'''Classic CJD'''
-| style="background:#f0f0f0;" align="center" |'''Variant CJD'''
+! align="center" style="background:#4479BA; color: #FFFFFF;" + |'''Variant CJD'''
 |-
 | Median age at death||68 years||28 years