Creutzfeldt-Jakob disease classification: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
No edit summary |
||
| Line 3: | Line 3: | ||
{{CMG}} | {{CMG}} | ||
==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. | ||
| Line 16: | Line 16: | ||
|- | |- | ||
|} | |} | ||
* '''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> | ||
| Line 22: | Line 24: | ||
|'''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 || | |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 | ||
| Line 50: | Line 52: | ||
* Scrapie in sheep | * Scrapie in sheep | ||
==References== | ==References== | ||
Revision as of 21:32, 14 February 2014
|
Creutzfeldt-Jakob disease Microchapters |
|
Differentiating Creutzfeldt-Jakob disease from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
Creutzfeldt-Jakob disease classification On the Web |
|
American Roentgen Ray Society Images of Creutzfeldt-Jakob disease classification |
|
Risk calculators and risk factors for Creutzfeldt-Jakob disease classification |
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:
- Gerstmann-Sträussler-Scheinker syndrome (GSS)
- Fatal familial insomnia (FFI)
- Kuru in humans
- Bovine spongiform encephalopathy (BSE) commonly known as mad cow disease
- Chronic wasting disease (CWD)
- Scrapie in sheep
References
- ↑ "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)