ID: 5

Disease Name: Creutzfeldt-Jakob Syndrome

Description: A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ataxia; aphasia, visual loss, weakness, muscle atrophy, myoclonus, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with encephalopathy, bovine spongiform) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of prions.

Disease Type: Amyloidosis

ICD-10 Classification: Certain Infectious and Parasitic Diseases

Tissue: Central Nervous System (CNS)

Cross References
http://apps.who.int/classifications/icd10/browse/2016/en#/A81

https://meshb.nlm.nih.gov/record/ui?ui=D007562

https://www.omim.org/entry/123400

https://www.ncbi.nlm.nih.gov/pubmed/3092727

https://www.ncbi.nlm.nih.gov/pubmed/19571726

Alternative Names:
CJD (Creutzfeldt-Jakob Disease)
Creutzfeldt Jacob Disease
Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, New Variant
Creutzfeldt-Jakob Disease, Variant
Familial Creutzfeldt-Jakob Disease
Jakob-Creutzfeldt Disease
Jakob-Creutzfeldt Syndrome
New Variant Creutzfeldt-Jakob Disease
Spongiform Encephalopathy, Subacute
V-CJD (Variant-Creutzfeldt-Jakob Disease)
Variant Creutzfeldt-Jakob Disease 

Precursor Proteins:
P04156 | Major prion protein


Co-deposited Proteins:
P01024 | Complement C3
P02649 | Apolipoprotein E
P02743 | Serum amyloid P-component
P02745 | Complement C1q subcomponent subunit A
P02746 | Complement C1q subcomponent subunit B
P02747 | Complement C1q subcomponent subunit C
P63104 | 14-3-3 protein zeta/delta


Link to Amyloidosis: 
	No information available
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