KEGG   DISEASE: Prion disease
H00061                      Disease                                
Prion disease;
Creutzfeldt-Jacob disease (CJD);
Gerstmann-Straussler disease (GSD);
Gerstmann-Straussler-Scheinker disease (GSSD);
Fatal familial insomnia (FFI)
Prion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of these diseases is thought to be associated with the conversion of a normal protein, PrPC, into an infectious, pathogenic form, PrPSc. The conversion is induced by prion infections (for example, variant Creutzfeldt-Jakob disease (vCJD), iatrogenic CJD, Kuru), mutations (familial CJD, Gerstmann-Straussler-Scheinker syndrome, fatal familial insomnia (FFI)) or unknown factors (sporadic CJD (sCJD)), and is thought to occur after PrPC has reached the plasma membrane or is re-internalized for degradation. The PrPSc form shows greater protease resistance than PrPC and accumulates in affected individuals, often in the form of extracellular plaques. Pathways that may lead to neuronal death comprise oxidative stress, regulated activation of complement, ubiquitin-proteasome and endosomal-lysosomal systems, synaptic alterations and dendritic atrophy, corticosteroid response, and endoplasmic reticulum stress. In addition, the conformational transition could lead to the lost of a beneficial activity of the natively folded protein, PrPC.
Neurodegenerative disease
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00061  Prion disease
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Human prion diseases
   8E00  Sporadic Creutzfeldt-Jakob Disease
    H00061  Prion disease
   8E01  Acquired prion disease
    H00061  Prion disease
   8E02  Genetic prion diseases
    H00061  Prion disease
   8E03  Variably protease sensitive prionopathy
    H00061  Prion disease
   8E0Y  Other specified human prion diseases
    H00061  Prion disease
hsa05020  Prion disease
nt06465  Prion disease
PRNP (mutation) [HSA:5621] [KO:K05634]
Affected region: cerebral cortex, thalamus, brain stem, cerebellum, etc.
Microscopic lesion: prion plaques
Other DBs
ICD-11: 8E00 8E01 8E02 8E03 8E0Y
ICD-10: A81.0
MeSH: D017096
OMIM: 123400 137440 600072 606688
Aguzzi A, Polymenidou M.
Mammalian prion biology: one century of evolving concepts.
Cell 116:313-27 (2004)

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