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{{‪Creutzfeldt-Jakob disease‬}}
{{CMG}}


{{Creutzfeldt-Jakob disease}}
{{CMG}}; {{AE}}, {{MMJ}}
==Overview==
==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==
==Classification==
The prion that is believed to cause Creutzfeldt-Jakob exhibits at least two stable conformations. One, the native state, is water-soluble and present in healthy cells. As of 2006, its biological function is unknown. The other conformational state is very poorly water-soluble and readily forms protein aggregates.


There are two typed CJD, classic and variant form. Classic CJD characteristics, as compared to variant CJD, are presented in the table below.
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>
** Most common, [[idiopathic]]
** Average age of onset is approximately 65 years
 
* '''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'''<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.
**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 [[dura mater]] grafts
***[[Neurosurgery|Neurosurgical]] instrument contamination
***[[Corneal graft|Corneal grafts]]
***[[Gonadotrophic|Gonadotrophic hormone]]
***[[Blood transfusion|Transfusion of blood]] products


Transmissible spongiform encephalopathy diseases are caused by prions. The diseases are thus sometimes called prion diseases.
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>
Other prion diseases include [[Gerstmann-Sträussler-Scheinker syndrome]] ([[GSS]]), [[fatal familial insomnia]] (FFI) and [[kuru]] in humans, as well as [[bovine spongiform encephalopathy]] ([[BSE]]) commonly known as [[mad cow disease]], [[chronic wasting disease]] ([[CWD]]), and scrapie in sheep.
{| class="wikitable"
|-
! 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
|-
|Ataxic variant ||VV2 ||[[Ataxia]] in early stage<br> [[Dementia]] in later stages<br>Typical EEG findings absent ||Brain-stem nuclei and <br> subcortical areas are affected<br>Perinuclear PrP staining<br>Plaque like focal Prp deposits
|-
|Kuru-plaques variant ||MV2 ||[[Ataxia]]<br>[[Dementia]]<br> Typical EEG findings absent<br> Longer duration (>2 yrs) compared to other variants ||Amyloid-kuru plaques in [[cerebellum]]<br>Plaque like focal PrP deposits
|-
|Thalamic variant ||MM2 (thalamic) ||[[Insomnia]]<br> Hyperactivity<br>[[Ataxia]]<br> [[Cognitive impairment]]<br>Typical EEG findings absent ||[[Thalamus|Thalamic]] and [[inferior olive]] atrpohy<br> Spongiosis could be absent<br>Lower amount of PrP staining
|-
| ||MM2 (cortical) ||Dementia <br> Typical EEG findings are absent||Large confluent vacuoles<br> Perivacuolar PrP staining<br> All layers of cortex are affected
|-
| ||VV1 ||Dementia<br> Typical EEG finding are absent||Diffuse cortical involvement<br> along with [[straitum]]<br> [[Cerebellum]] is spared<br> No large confluent vacuoles are present<br> Lower amount of PrP staining
|-
|}
<SMALL>Abbreviations: PrP=Prion protein<br>
MM, VV and MV are genotypes of PrP<br>
MM1: MM genotype type 1 (M:Methionine;V:Valine), MV1:MV genotype type 1, VV2:VV genotype type 2, MV2:MV genotype type 2<br>
Type 1 and type 2 are based on the molecular mass of PrP, type 1: 19 kd, type 2: 21kd
</SMALL>


*Clinical and Pathologic Characteristics:<ref>{{cite journal |author=Belay ED, Schonberger LB |title=Variant Creutzfeldt-Jakob disease and bovine spongiform encephalopathy |journal=Clin. Lab. Med. |volume=22 |issue=4 |pages=849-62, v-vi |year=2002 |pmid=12489284 |doi=}}</ref>
==Distinction Between Classic and Variant Creutzfeldt-Jakob disease==
<table border="0" width="80%" id="table1" class="wikitable">
The following table demonstrates distinguishing features for classic and variant Creutzfeldt-Jakob disease:
<tr>
 
<td>'''Characteristic''' </td>
{| style="border:#c9c9c9 1px solid; margin: 1em 1em 1em 0; border-collapse: collapse;" cellspacing="0" cellpadding="4" {{table}}
<td>'''Classic CJD'''</td>
! align="center" style="background:#4479BA; color: #FFFFFF;" + |'''Characteristic'''
<td>'''Variant CJD'''</td>
! align="center" style="background:#4479BA; color: #FFFFFF;" + |'''Classic CJD'''
</tr>
! align="center" style="background:#4479BA; color: #FFFFFF;" + |'''Variant CJD'''
<tr>
|-
<td>Median age at death</td>
| Median age at death||68 years||28 years
<td>68 years</td>
|-
<td>28 years </td>
| Median duration of symptoms||4 to 5 months||13 to 14 months
</tr>
|-
<tr>
| Common clinical manifestations||Dementia, early neurologic signs||Psychiatric symptoms, painful dyesthesiasis, delayed neurological signs
<td>Median duration of illness</td>
|-
<td>4-5 months</td>
| Periodic sharp waves on EEG||Present||Absent
<td>13-14 months </td>
|-
</tr>
| "Pulvinar sign" on MRI||Not reported||Usually present
<tr>
|-
<td>Clinical signs and symptoms</td>
| "Florid plaques" on neuropathology||Rare / absent||Abundant
<td>Dementia; early neurologic signs</td>
|-
<td>Prominent psychiatric/behavioral symptoms; painful [[dysesthesias]];
| Immunohistochemical analysis of brain tissue||Variable accumulation||Marked accumulation of protease-resistance prion protein
delayed neurologic signs </td>
|-
</tr>
| Agent in lymphoid tissue||Not  detected||Detected
<tr>
|-
<td>Periodic sharp waves on [[electroencephalogram]]</td>
| Glycoform ratioo on immunoblot analysis of protease-resistance prion protein||Not reported||Marked accumulation of protease-resistance prion protein
<td>Often present</td>
|}
<td>Often absent</td>
<SMALL>Adapted from Belay E. Schonberger L. Variant Creutzfeldt-Jakob disease and bovine spongiform encephalopathy. Clin Lab Med. 2002;22:849-62.<ref name="pmid12489284">{{cite journal| author=Belay ED, Schonberger LB| title=Variant Creutzfeldt-Jakob disease and bovine spongiform encephalopathy. | journal=Clin Lab Med | year= 2002 | volume= 22 | issue= 4 | pages= 849-62, v-vi | pmid=12489284 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12489284 }} </ref></SMALL>
</tr>
<tr>
<td>Signal hyperintensity in the [[caudate nucleus]] and [[putamen]] on diffusion-weighted and FLAIR MRI</td>
<td>Often present</td>
<td>Often absent</td>
</tr>
<tr>
<td>"[[Pulvinar]] sign" on MRI</td>
<td>Not reported</td>
<td>Present in &gt;75% of cases</td>
</tr>
<tr>
<td>[[Immunohistochemical staining|Immunohistochemical analysis]] of brain tissue</td>
<td>Variable accumulation.</td>
<td>Marked accumulation of protease-resistant prion protein</td>
</tr>
<tr>
<td>Presence of agent in [[lymphoid]] tissue</td>
<td>Not readily detected</td>
  <td>Readily detected </td>
</tr>
<tr>
<td>Increased [[glycoform]] ratio on immunoblot analysis of
protease-resistant prion protein</td>
<td>Not reported </td>
<td>Marked accumulation of protease-resistant prion protein </td>
<tr>
<td>Presence of amyloid plaques in brain tissue</td>
<td>May be present</td>
<td>May be present</td>
  </tr>
</table>


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
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[[Category:Infectious disease]]
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Latest revision as of 19:45, 7 July 2020

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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

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

  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. ↑ "http://www.cdc.gov/ncidod/dvrd/cjd/qa_cjd_infection_control.htm". 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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