APOE in non-Alzheimer amyloidoses: transmissible spongiform encephalopathies. 1998

J Chapman, and L Cervenáková, and R B Petersen, and H S Lee, and J Estupinan, and S Richardson, and C L Vnencak-Jones, and D C Gajdusek, and A D Korczyn, and P Brown, and L G Goldfarb
Clinical Neurogenetics Unit, Medical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-4129, USA.

BACKGROUND The APOE genotype has been shown to influence the risk of developing sporadic and familial AD. This effect is isoform-dependent, the APOE epsilon4 allele increasing susceptibility and the APOE epsilon2 allele providing protection. Amyloid formation is an important part of the pathogenesis in AD as well as in spongiform encephalopathies; apoE deposition in amyloid plaques has been documented in both conditions. METHODS We examined the frequency of the APOE alleles in patients with various forms of transmissible spongiform encephalopathies, or prion diseases, including sporadic and iatrogenic Creutzfeldt-Jakob disease; familial Creutzfeldt-Jakob disease associated with PRNP 178N/129V and 200K/129M point mutations and a 24-nucleotide repeat expansion; fatal familial insomnia caused by the 178N/129M mutation; Gerstmann-Sträussler-Scheinker disease associated with 102L/129M mutation; and kuru. RESULTS None of the groups we studied had a significant excess of APOE epsilon4 allele when compared with appropriate controls. CONCLUSIONS Our results do not support the contention that the APOE epsilon4 allele is a risk factor for developing Creutzfeldt-Jakob disease or related disorders.

UI MeSH Term Description Entries
D007049 Iatrogenic Disease Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment. Hospital-Acquired Condition,Condition, Hospital-Acquired,Conditions, Hospital-Acquired,Disease, Iatrogenic,Diseases, Iatrogenic,Hospital Acquired Condition,Hospital-Acquired Conditions,Iatrogenic Diseases
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
D007729 Kuru A prion disease found exclusively among the Fore linguistic group natives of the highlands of NEW GUINEA. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773) Kuru Encephalopathy,Encephalopathy, Kuru
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010507 Periodicity The tendency of a phenomenon to recur at regular intervals; in biological systems, the recurrence of certain activities (including hormonal, cellular, neural) may be annual, seasonal, monthly, daily, or more frequently (ultradian). Cyclicity,Rhythmicity,Biological Rhythms,Bioperiodicity,Biorhythms,Biological Rhythm,Bioperiodicities,Biorhythm,Cyclicities,Periodicities,Rhythm, Biological,Rhythmicities,Rhythms, Biological
D005838 Genotype The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. Genogroup,Genogroups,Genotypes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000483 Alleles Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. Allelomorphs,Allele,Allelomorph
D000686 Amyloidosis A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits. Amyloidoses
D001057 Apolipoproteins E A class of protein components which can be found in several lipoproteins including HIGH-DENSITY LIPOPROTEINS; VERY-LOW-DENSITY LIPOPROTEINS; and CHYLOMICRONS. Synthesized in most organs, Apo E is important in the global transport of lipids and cholesterol throughout the body. Apo E is also a ligand for LDL receptors (RECEPTORS, LDL) that mediates the binding, internalization, and catabolism of lipoprotein particles in cells. There are several allelic isoforms (such as E2, E3, and E4). Deficiency or defects in Apo E are causes of HYPERLIPOPROTEINEMIA TYPE III. Apo-E,Apo E,Apo E Isoproteins,ApoE,Apolipoprotein E Isoproteins,Apoprotein (E),Apoproteins E,Isoproteins, Apo E,Isoproteins, Apolipoprotein E

Related Publications

J Chapman, and L Cervenáková, and R B Petersen, and H S Lee, and J Estupinan, and S Richardson, and C L Vnencak-Jones, and D C Gajdusek, and A D Korczyn, and P Brown, and L G Goldfarb
August 1993, Journal of comparative pathology,
J Chapman, and L Cervenáková, and R B Petersen, and H S Lee, and J Estupinan, and S Richardson, and C L Vnencak-Jones, and D C Gajdusek, and A D Korczyn, and P Brown, and L G Goldfarb
January 1993, Developments in biological standardization,
J Chapman, and L Cervenáková, and R B Petersen, and H S Lee, and J Estupinan, and S Richardson, and C L Vnencak-Jones, and D C Gajdusek, and A D Korczyn, and P Brown, and L G Goldfarb
July 2000, Nature medicine,
J Chapman, and L Cervenáková, and R B Petersen, and H S Lee, and J Estupinan, and S Richardson, and C L Vnencak-Jones, and D C Gajdusek, and A D Korczyn, and P Brown, and L G Goldfarb
October 1994, Communicable disease report. CDR weekly,
J Chapman, and L Cervenáková, and R B Petersen, and H S Lee, and J Estupinan, and S Richardson, and C L Vnencak-Jones, and D C Gajdusek, and A D Korczyn, and P Brown, and L G Goldfarb
January 2004, Lancet (London, England),
J Chapman, and L Cervenáková, and R B Petersen, and H S Lee, and J Estupinan, and S Richardson, and C L Vnencak-Jones, and D C Gajdusek, and A D Korczyn, and P Brown, and L G Goldfarb
January 2002, Salud publica de Mexico,
J Chapman, and L Cervenáková, and R B Petersen, and H S Lee, and J Estupinan, and S Richardson, and C L Vnencak-Jones, and D C Gajdusek, and A D Korczyn, and P Brown, and L G Goldfarb
December 1997, The New England journal of medicine,
J Chapman, and L Cervenáková, and R B Petersen, and H S Lee, and J Estupinan, and S Richardson, and C L Vnencak-Jones, and D C Gajdusek, and A D Korczyn, and P Brown, and L G Goldfarb
September 1998, Biochemical and biophysical research communications,
J Chapman, and L Cervenáková, and R B Petersen, and H S Lee, and J Estupinan, and S Richardson, and C L Vnencak-Jones, and D C Gajdusek, and A D Korczyn, and P Brown, and L G Goldfarb
December 2008, Journal of the American Veterinary Medical Association,
J Chapman, and L Cervenáková, and R B Petersen, and H S Lee, and J Estupinan, and S Richardson, and C L Vnencak-Jones, and D C Gajdusek, and A D Korczyn, and P Brown, and L G Goldfarb
July 1997, DTW. Deutsche tierarztliche Wochenschrift,
Copied contents to your clipboard!