Creutzfeldt-Jakob disease classification: Difference between revisions

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==Overview==
==Overview==
Creutzfeldt-Jakob disease is a rare fatal neurodegenerative disorder, it can occur in sporadic, familial and iatrogenic forms.  Variant forms of CJD (vCJD) have also been recognized.  
Creutzfeldt-Jakob disease is a rare [[fatal]] [[neurodegenerative]] disorder, it can occur in [[sporadic]], [[familial]] and [[iatrogenic]] forms.  Variant forms of CJD (vCJD) have also been recognized.  
==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.
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.
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* '''Iatrogenic''' transmission of CJD has been linked to 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>


Parchi et al classified sporadic CJD (sCJD) based on molecular and phenotypic features.<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>
Parchi et al classified sporadic CJD (sCJD) based on molecular and phenotypic features.<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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|'''Previous classification'''||'''sCJD variants according to Parchi et al'''||'''Clinical features'''||'''Neuropathological features'''
|'''Previous classification'''||'''sCJD variants according to Parchi et al'''||'''Clinical features'''||'''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 cortex]] involvement<br>Confluent vacuoles<br>Perivacuolar PrP staining  
|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 ||[[Brainstem nuclei]] and <br> subcortical areas are affected<br>Perinuclear PrP staining<br>Plaque like focal Prp deposits
|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
|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
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* Scrapie in sheep
* Scrapie in sheep


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>
<table border="0" width="80%" id="table1" class="wikitable">
<tr>
<td>'''Characteristic''' </td>
<td>'''Classic CJD'''</td>
<td>'''Variant CJD'''</td>
</tr>
<tr>
<td>Median age at death</td>
<td>68 years</td>
<td>28 years </td>
</tr>
<tr>
<td>Median duration of illness</td>
<td>4-5 months</td>
<td>13-14 months </td>
</tr>
<tr>
<td>Clinical signs and symptoms</td>
<td>Dementia; early neurologic signs</td>
<td>Prominent psychiatric/behavioral symptoms; painful [[dysesthesias]];
delayed neurologic signs </td>
</tr>
<tr>
<td>Periodic sharp waves on [[electroencephalogram]]</td>
<td>Often present</td>
<td>Often absent</td>
</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==

Revision as of 21:32, 14 February 2014

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Creutzfeldt-Jakob disease is a rare fatal neurodegenerative disorder, it can occur in sporadic, familial and iatrogenic forms. Variant forms of CJD (vCJD) have also been recognized.

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 types of CJD, classic and variant form. Classic CJD characteristics, as compared to variant CJD, are presented in the table below. The classic types of CJD are:

Sporadic CJD Most prevalent, idiopathic, average age of onset is 65 years
Familial CJD Results when a person inherited the abnormal prion (rare)
  • Iatrogenic transmission of CJD has been linked to the use of contaminated human growth hormone, dura mater and corneal grafts, or neurosurgical equipment.[1]

Parchi et al classified sporadic CJD (sCJD) based on molecular and phenotypic features.[2]

Previous classification sCJD variants according to Parchi et al 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
  • 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

Transmissible spongiform encephalopathy diseases are caused by prions. The diseases are thus sometimes called prion diseases. Other prion diseases include:


References

  1. ↑ "http://www.cdc.gov/ncidod/dvrd/cjd/qa_cjd_infection_control.htm". Retrieved 14 February 2014. External link in |title= (help)
  2. ↑ 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)


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