Biomaterial Database

Creutzfeldt-Jakob disease and related disorders: etiopathogenetic aspects. 1997

P Barbanti, and M Pocchiari

Department of Neurological Sciences, La Sapienza, University of Rome, Italy.

UI	MeSH Term	Description	Entries
D007562	Creutzfeldt-Jakob Syndrome	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. (From N Engl J Med, 1998 Dec 31;339(27))	New Variant Creutzfeldt-Jakob Disease,Spongiform Encephalopathy, Subacute,CJD (Creutzfeldt-Jakob Disease),Creutzfeldt Jacob Disease,Creutzfeldt-Jakob Disease,Creutzfeldt-Jakob Disease, Familial,Creutzfeldt-Jakob Disease, New Variant,Creutzfeldt-Jakob Disease, Variant,Familial Creutzfeldt-Jakob Disease,Jakob-Creutzfeldt Disease,Jakob-Creutzfeldt Syndrome,V-CJD (Variant-Creutzfeldt-Jakob Disease),Variant Creutzfeldt-Jakob Disease,CJD (Creutzfeldt Jakob Disease),Creutzfeldt Jakob Disease,Creutzfeldt Jakob Disease, Familial,Creutzfeldt Jakob Disease, New Variant,Creutzfeldt Jakob Disease, Variant,Creutzfeldt Jakob Syndrome,Creutzfeldt-Jakob Diseases, Familial,Disease, Creutzfeldt Jacob,Disease, Creutzfeldt-Jakob,Disease, Familial Creutzfeldt-Jakob,Disease, Jakob-Creutzfeldt,Encephalopathies, Subacute Spongiform,Encephalopathy, Subacute Spongiform,Familial Creutzfeldt Jakob Disease,Familial Creutzfeldt-Jakob Diseases,Jacob Disease, Creutzfeldt,Jakob Creutzfeldt Disease,Jakob Creutzfeldt Syndrome,New Variant Creutzfeldt Jakob Disease,Spongiform Encephalopathies, Subacute,Subacute Spongiform Encephalopathies,Subacute Spongiform Encephalopathy,Syndrome, Creutzfeldt-Jakob,Syndrome, Jakob-Creutzfeldt,V CJD (Variant Creutzfeldt Jakob Disease),Variant Creutzfeldt Jakob Disease
D011328	Prions	Small proteinaceous infectious particles which resist inactivation by procedures that modify NUCLEIC ACIDS and contain an abnormal isoform of a cellular protein which is a major and necessary component. The abnormal (scrapie) isoform is PrPSc (PRPSC PROTEINS) and the cellular isoform PrPC (PRPC PROTEINS). The primary amino acid sequence of the two isoforms is identical. Human diseases caused by prions include CREUTZFELDT-JAKOB SYNDROME; GERSTMANN-STRAUSSLER SYNDROME; and INSOMNIA, FATAL FAMILIAL.	Mink Encephalopathy Virus,Prion,Encephalopathy Virus, Mink
D011498	Protein Precursors		Precursors, Protein
D001921	Brain	The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.	Encephalon
D004252	DNA Mutational Analysis	Biochemical identification of mutational changes in a nucleotide sequence.	Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000072002	Prion Proteins	Membrane glycosylphosphatidylinositol-anchored glycoproteins that may aggregate into rod-like structures. The prion protein (PRNP) gene is characterized by five TANDEM REPEAT SEQUENCES that encode a highly unstable protein region of five octapeptide repeats. Mutations in the repeat region and elsewhere in this gene are associated with CREUTZFELDT-JAKOB DISEASE; FATAL FAMILIAL INSOMNIA; GERSTMANN-STRAUSSLER DISEASE; Huntington disease-like 1, and KURU.	PrP Proteins,AltPrP,Alternative Prion Protein,CD230 Antigen,Creutzfeldt-Jakob Disease Protein,Fatal Familial Insomnia Protein,Major Prion Protein,Prion Protein,Antigen, CD230,Creutzfeldt Jakob Disease Protein,Prion Protein, Alternative,Prion Protein, Major
D000682	Amyloid	A fibrous protein complex that consists of proteins folded into a specific cross beta-pleated sheet structure. This fibrillar structure has been found as an alternative folding pattern for a variety of functional proteins. Deposits of amyloid in the form of AMYLOID PLAQUES are associated with a variety of degenerative diseases. The amyloid structure has also been found in a number of functional proteins that are unrelated to disease.	Amyloid Fibril,Amyloid Fibrils,Amyloid Substance,Fibril, Amyloid,Fibrils, Amyloid,Substance, Amyloid
D017096	Prion Diseases	A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)	Dementias, Transmissible,Spongiform Encephalopathies, Transmissible,Transmissible Dementias,Encephalopathies, Spongiform, Transmissible,Human Transmissible Spongiform Encephalopathies, Inherited,Inherited Human Transmissible Spongiform Encephalopathies,Prion Disease,Prion Protein Diseases,Prion-Associated Disorders,Prion-Induced Disorder,Prion-Induced Disorders,Transmissible Spongiform Encephalopathies,Dementia, Transmissible,Disorder, Prion-Induced,Disorders, Prion-Induced,Encephalopathies, Transmissible Spongiform,Encephalopathy, Transmissible Spongiform,Prion Induced Disorder,Prion Protein Disease,Spongiform Encephalopathy, Transmissible,Transmissible Dementia,Transmissible Spongiform Encephalopathy