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  • 1
    ISSN: 1573-7284
    Keywords: Creutzfeldt-Jacob disease ; Molecular genetics of transmissible encephalopathies ; PRNP gene ; Point mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract 200Lys mutation in the human PRNP coding region has been identified in 45 of the 55 CJ-Daffected families thus far presented to our NIH laboratory. These codon 200lys families have a total of 87 patients, and originate from 7 different countries: Slovakia, Poland, Germany, Tunisia, Greece, Libya, and Chile. Forty-seven patients were neuropathologically verified, and brain tissue from 14 patients transmitted disease to experimental primates. The mutation was found by direct sequencing in 4 patients, and it was detected by restriction endonuclease analysis with BsmA 1 and/or the single nucleotide extension reaction in 36 other patients and 45 of 109 first degree relatives (1 parent, 14 siblings, and 30 children). The mutation is associated with all known geographical clusters of CJD (Slovakia, Libyan Jews, Chile) in which the annual mortality rate is tens or hundreds of times higher than the world average of 1 per million. All patients originating from the cluster areas carried the mutation, but it was seen in only 1 of 103 unrelated control individuals from the same areas, and in none of 102 controls from other areas, indicating a strong association between the mutation and disease. The penetrance of the mutation was estimated to be 0.56. Branches of some families migrating from cluster areas to other countries continue to have CJD over several generations, suggesting that CJD in these families is a genetic disorder, in which the 200Lys mutation is responsible for the disease.
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  • 2
    ISSN: 1573-7284
    Keywords: Creutzfeldt-Jakob disease ; Spongiform encephalopathy ; PRNP gene
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Cases of familial Creutzfeldt-Jakob disease (CJD) with mutations in the PRNP gene were analyzed for distinctive clinico-pathological and experimental transmission characteristics. An insert mutation within the region of codons 51 to 91 was associated with a markedly early age at onset and prolonged course of illness. Point mutations at codons 178 and 200 were also associated with ages at onset, durations of illness, and clinical symptom profiles that differed from sporadic CJD. The age at onset of illness in each group was correlated with the length of incubation periods in primates inoculated with their brain tissue, suggesting that the early onset of familial CJD results not from a time shift of the initiating event, but from an accelerated pre-clinical (incubation) phase of disease, perhaps due to a more rapid formation of amyloid induced by a mutationally-altered precursor protein template.
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  • 3
    ISSN: 1573-7284
    Keywords: Creutzfeldt-Jakob disease ; familial ; Transmissible spongiform encephalopathy ; Prion protein gene, codon 178 ; Mutation ; Epidemiology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In 1974–1984 30 patients died with a diagnosis of Creutzfeldt-Jakob disease (CJD) in Finland (annual mortality rate of CJD 0.9 per million population for the years 1979–1984). Six of these patients (20%) were familial, all belonging to the same kindred. The pedigree now includes 15 affected members in four generations, and the occurrence of disease is consistent with an autosomal dominant mode of inheritance. The clinical features of CID in this family are in most respects typical of the familial disease described elsewhere. However, the mean age at onset is 47, periodic EEG activity has not been observed, and the mean duration of illness of 27.5 months is longer than usual for either familial or sporadic CJD. Neuropathological examination of brain biopsy and autopsy specimens revealed spongiform change without amyloid plaques, and brain tissue from one patient transmitted disease to a capuchin monkey. In an analysis of the histocompatibility antigens of the family, CJD was not linked with a single haplotype, but at least 12 out of 13 CJD patients shared the HLA antigen A28. Molecular genetic studies disclosed a new G-to-A mutation in codon 178 of the PRNP gene (resulting in a substitution of asparagine for aspartic acid) in the DNA of eight family members with CJD but not in any of ten currently healthy first degree relatives of the patients, or 86 controls. The codon 178 mutation thus seems to co-segregate with CJD in this family. Linkage analysis gave a LOD score value of 3.6.
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  • 4
    ISSN: 1573-7284
    Keywords: PrP-arnyloid ; Creutzfeldt-Jakob disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report here PrP-immunohistochemistry performed on brains from CJD cases from Poland. Only one of five definitive CJD cases exhibited typical PrP-immunoreactive kuru-like plaques and this was case of a short duration. We thus confirm the low frequency of PrP plaques in CJD of Eastern and Central European origin.
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  • 5
    ISSN: 1573-7284
    Keywords: Infectious amyloid proteins ; Creutzfeldt-Jakob disease ; Scrapie ; Bovine spongiform encephaloathies ; Gerstmann ; Sträussler syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Kuru, Creutzfeld-Jakob disease, Gerstmann-Straussler syndrome, scrapie, and bovine spongiform encephalopathy are caused by so-called unconventional viruses which are really replicating proteins which induce by auto nucleation and autopatterning a configurational change in the precursor protein to produce an infectious amyloid form. Crystallography and NMR may eventually determine how amyloid precursor protein is converted to this infectious form by configurational changes in all tertiary and quaternary structure of the normal precursor. Most sporadic cases of CJD arise by de novo spontaneous conversion of the normal precursor to the infectious form, a rare event occurring at the frequency of one per million persons per year (the annual incidence of CJD throughout the world). In the familial forms of CJD and GSS, where the occurrence is an autosomal dominant trait, each family has one of five different mutations causing a single amino acid change or one of five insertions of 5, 6, 7, 8 or 9 octapeptide repeats. Each mutation causes a million-fold increased probability of the spontaneous configurational change to an infectious polypeptide, and appears as an autosomal dominant trait. Thus, the behavior of the transmissibile brain amyloidosis parallels completely that of the transthyretin amyloidoses causing familial amyloidotic polyneuropathy, in which there are 19 different point mutations, each one of which increases enormously the likelihood of configurational change of transthyretin prealbumin to amyloid.
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  • 6
    ISSN: 1573-7284
    Keywords: Creutzfeldt-Jakob disease ; Familial occurrence ; Conjugal occurrence ; Gerstmann-Straüssler syndrome ; Incubation period ; Amyloid ; Scrapie ; Alzheimer's disease ; Epidemiology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Of 329 patients dying of Creutzfeldt-Jakob disease (CJD) in continental France between 1968 and 1982, 19 (6%) were familial cases. Genealogical investigation permitted the identification of 19 additional cases, bringing the total number of familial CJD cases reported here to .38. There are 6 definitely affected families, yielding an average of 6.3 cases per family. Mediterranean Jews account for one-third of all the cases, with Tunisian Jews constituting two-thirds of this ethnic group. Males and females are equally affected. The overall rate of occurrence (47.3%) is consistent with autosomal dominant transmission, but wide variations in individual pedigrees (26.7%–80%) leave this hypothesis open to scrutiny. Age at death is 10 to 15 years lower in familial than in sporadic CJD, suggesting the possible inheritance of « short incubation » genes in certain CJD families. Disease duration is longer in familial than in sporadic CJD, but this could be the effect of ascertainment bias. There is no evidence for maternal lineage. While members of a given family tend to die within the same age bracket, our data fail to discriminate between vertical transmission and common source exposure as hypothetical transmission mechanisms within affected' families. CJD occurrence in a woman related by marriage to an unaffected branch of a CJD family, but who was raised in early childhood by the affected branch, argues in favor of horizontal transmission early in life. Analysis of death intervals and geographic! temporal separations suggests minimal incubation periods of up to 43 years. A family combining clinico-pathological features of CJD and the Gerstmann-Straiissler syndrome (GSS) indicates a nosological relationship between the two. The « genetic susceptibility » of members of CJD-affected families may be due to accelerated derepression of normally repressed host genes, coding for abnormal amyloid-type proteins. Accumulation of these proteins may play an important role in the pathogenesis of CJD and scrapie, and constitute a common pathogenesic mechanism in several neurological diseases, including Alzheimer's disease (AD) and senile dementia of the Alzheimer type (SDAT).
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  • 7
    ISSN: 1573-7284
    Keywords: Creutzfeldt-Jakob disease ; Electron microscopy ; Myelinated axon
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report the ultrastructural pathology of myelinated axons in mice infected experimentally with the Fujisaki strain of Creutzfeldt-Jakob disease (CJD). Initially the myelin sheath was separated into several concentric bands, and cellular processes penetrated between layers of myelin and lifted away the outermost lamella. Then a complicated labyrinth of the concentric cellular processes, clearly belonging to either astrocytes or macrophages, invested myelinated axons. In terminal stages axons completely denuded of myelin were seen in the center of concentric networks of cellular processes. Myelin remnants were seen within astrocytes and macrophages. We conclude that the mechanism(s) of damage to myelinated axons in CID may be similar to that operating in immunologically mediated demyelinating disorders.
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  • 8
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature 200 (1963), S. 112-114 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] A PERIODICITY is often a matter of crucial interest, and concern to science. Investigators in many disciplines, faced with the fact of non-recurrence, or their inability to recreate phenomena in which they are interested, are confronted with the problem of recording, preserving, and retrieving data ...
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  • 9
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature 216 (1967), S. 446-449 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Forty-seven strains of virus have been isolated from sterile long maintained tissue explants from chimpanzees suffering from experimental kuru. Many are new simian viruses, and none have been demonstrated to be a cause of the kuru ...
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  • 10
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature 213 (1967), S. 1148-1149 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] The present communication deals exclusively with investigations carried out on various groups of people within the Melanesian population during 1965, and the the new data presented demonstrate that the Duffy Fyb gene is also present in Melanesians, but its distribution is limited to certain ...
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