Biomedical subjects

F Cathala

Publications and source records attributed to F Cathala.

At least 37 records · Page 2Linked to original sources

PubMed1986

[Creutzfeldt-Jakob disease in France. Value of familial forms. Is there a gene controlling the length of the incubation period?].

An extensive search for patients who died of Creutzfeld-Jakob disease in France between 1968 and 1982 resulted in the discovery of 327 cases, 233 of which were histologically proven and 29 transmitted to animals; 17 patients belonged to 6 families. Further investigations among members of these 6 families yielded 21 additional cases, i.e. a total of 38 familial cases. Studies among sibships suggested an autosomal dominant pattern of transmission but did not exclude lateral contamination infancy. The patients' age at death was 10 to 15 years lower than that of the total of French cases and seemed to be a characteristic of each individual family. This suggests that, as in scrapie, a gene may control the length of the incubation period.

Adult↗

PubMed1986

Creutzfeldt-Jakob disease: clinical analysis of a consecutive series of 230 neuropathologically verified cases.

In this consecutive series of 230 patients with neuropathologically verified Creutzfeldt-Jakob disease (CJD), the disease was found to affect men and women with approximately equal frequency in a peak plateau between the ages of 55 and 75 years (mean, 61.5 years). Familial cases accounted for 4 to 8% of the total series. Nonspecific prodromal symptoms occurred in one third of the patients, and the neurological presentation, although usually a gradually evolving mental deterioration, was of rapid onset in 20% of patients and in 36% of patients consisted exclusively of neurological symptoms. The great majority of these symptoms were of cerebellar or visual origin. Extrapyramidal muscular rigidity, myoclonus, and characteristic periodic electroencephalographic (EEG) complexes were observed comparatively late in the illness, and some type of involuntary movement or periodic EEG activity was seen in over 95% of the patients. The median duration of illness was 4 months (mean, 7.6 months); 90% of patients died within a year of onset.

Adult↗

PubMed1986

Study of endemic scrapie in a flock of "Ile de France" sheep.

An "Ile de France" flock was studied over a period of 5 years. The authors found similar results concerning incidence and age of onset of scrapie to those found in the English literature. A close relationship was established between the age of the dam at parturition and the age of the progeny at onset of scrapie. In the later years of our study, scrapie was detected in younger animals than in the earlier years, suggesting a phenomenon of genetic "anticipation". Increased fecundity in this endemically affected flock might represent a form of selection which favorises the occurrence and maintenance of the disease within the flock.

Animals↗

PubMed1986

Familial Creutzfeldt-Jakob disease in France: epidemiological implications.

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-Straüssler 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 pathogenetic mechanism in several neurological diseases, including Alzheimer's disease (AD) and senile dementia of the Alzheimer type (SDAT).

Age Factors↗

PubMed1986

[Creutzfeldt-Jakob disease in the Paris area: ethnic origin of the patients].

Twenty six (27 p. 100) of 96 patients dying from Creutzfeldt-Jakob disease in the Paris metropolitan area between 1968 and 1982 were born in foreign countries although the proportion of foreign-born residents account for only 15 p. 100 of the population. The annual mortality rate of Creutzfeldt-Jakob's disease in this group of foreign-born cases (1.33 per million) was twice that of French-born residents (0.64 per million). Twenty of the 26 foreign-born cases originated from countries surrounding the Mediterranean sea, and 5 of 7 familial cases belonged to 2 Tunisian families. There was no spatial clustering of foreign-born cases and no relationship between their Paris residence and the percent of foreign-born people living in the same area. The disproportionate frequency of Creutzfeldt-Jakob's disease among foreign-born residents thus seems to be a contributing factor to the higher prevalence of Creutzfeldt-Jakob's disease in Paris when compared to the rest of France. It further suggests that the prevalence of Creutzfeldt-Jakob's disease in Mediterranean countries may be greater than expected.

Creutzfeldt-Jakob Syndrome↗

PubMed1985

Failure to detect scrapie virus in sheep at slaughter in a highly endemic region of France.

A study was carried out in a sheep slaughterhouse located in a region of France where scrapie has been endemic for several decades. Neuropathological examination of 63 randomly selected lambs and adult sheep revealed no scrapie-related abnormalities, and inoculation of mice with brain, tonsil, lateropharyngeal ganglia, and intestine from the same animals did not transmit scrapie. The failure to detect any evidence of scrapie infection in commercially-bred sheep, the absence of an increased mortality rate for human CJD in the surrounding consumer region, and the absence of a single case of CJD among slaughterhouse personnel, do not support the hypothesis that exposure to potentially scrapie-contaminated products is responsible for CJD in humans.

Abattoirs↗

PubMed1985

Epidemiologic implications of Creutzfeldt-Jakob disease in a 19 year-old girl.

A histopathologically-verified, clinically typical case of Creutzfeldt-Jakob disease (CJD) is described in a 19 year-old girl. Only 3 previous cases of CJD have been reported in adolescents, and one of these was iatrogenically transmitted, while another was familial. Epidemiologic investigation of the present case excluded a familial component, and provided no evidence for iatrogenic or natural case-to-case transmission, or of other environmental sources of viral contamination. Young patients such as this one serve to emphasize the obscurity that still surrounds the epidemiology of CJD, and invite serious reconsideration of the possibilities of transmission by undetected virus carriers, or of the agent as a natural resident of human cells, replication of which might be triggered by non-infective (e.g., traumatic or mutational) environmental events.

Adult↗

PubMed1985

Sheep major histocompatibility complex OLA: gene frequencies in two French breeds with scrapie. Evidence for a linkage between OLA and resistance or susceptibility to the disease.

Gene frequencies of 13 sheep lymphocyte factors (11 factors controlled by the sheep OLA complex including three closely linked loci, and two factors by two minor loci) were compared in 189 sheep of two breeds: a. infected with scrapie, b. healthy in a contaminated environment, and c., normal. In a and c, OLA gene frequencies were similar. In healthy sheep in a contaminated environment (b), some OLA gene frequencies were higher in one breed and lower in the other. In each breed, three antigens had their frequencies significantly modified; two of them were the same in the two breeds, but they showed an inverse variation. Thus, the relative risk of clinical scrapie decreased in one breed and increased in the other for the same OLA gene. These data indicate first, that OLA antigens are not directly involved in causing scrapie, and second, that the OLA complex is linked to at least one scrapie resistance/susceptibility locus. In practice, it should be possible to select more resistent sheep, using some OLA antigens but an investigation of the OLA genes and the resistance to scrapie in a given breed is necessary before the selection.

Animals↗

PubMed1985

High incidence of Creutzfeldt-Jakob disease in North African immigrants to France.

During the 15-year period 1968-1982, 328 French residents died of Creutzfeldt-Jakob disease (CJD); 273 had been born in France (annual mortality rate of 0.38 per million inhabitants). Of the 55 foreign-born cases, 12 came from Tunisia and 11 from Algeria (mortality rates of 4.53 and 0.95 per million). Nearly all of the Tunisians were Jews, and six belonged to two families. These findings complement earlier observations on Libyan-born Israelis, but still do not discriminate between genetic or environmental causal factors, which will require epidemiologic investigation of CJD in North Africa.

Africa, Northern↗

PubMed1985

Effects of in vitro infection of mouse glial and neuroblastoma cells with the scrapie agent.

Mouse glial and neuroblastoma cells were infected with the mouse adapted strains C506 and 139A of scrapie agent. Lysates of the in vitro infected cells (from the 3rd to the 16th passage) intracerebrally inoculated into CD-1 mice, caused the development of a neurological disease, with characteristic signs of scrapie. Morphological changes in scrapie-infected neural cells were observed after about fifteen in vitro passages. In liquid medium, the cloning efficiency of these cells increased. They acquired the capacity to form large tridimensional colonies in agar. Heating the infectious brain extracts at 60 and 80 degrees C for 30 minutes did not inhibit these changes thus showing the involvement of the thermoresistant scrapie agent. Supernatants of scrapie-infected glial cells promoted colony formation in liquid medium with different types of normal cells. Analysis of supernatants of scrapie-infected mouse neuroblastoma cells showed a profound modification of neurotransmitter metabolism.

Animals↗

PubMed1984

Monoamine abnormalities in the brain of scrapie-infected rats.

The effects of the scrapie agent on the levels of monoamines and their metabolites, and on choline acetyltransferase (CAT) activity have been investigated in discrete brain areas in the rat. Two strains of scrapie (8745 from sheep brain and C506 M3 from mice brain) were inoculated. Scrapie-infected rats showed a reduction in the levels of serotonin (prefrontal cortex, hippocampus, striatum) and dopamine (striatum) and an elevation of 5-HIAA levels (cerebral cortex, striatum, thalamus). Noradrenaline levels were decreased only in the cerebral cortex and cerebellum of rats infected with the scrapie strain C506 M3. CAT activity remained unchanged. These data suggest that the scrapie agent causes a derangement of noradrenergic, serotonergic and dopaminergic systems in the rat brain.

Animals↗

PubMed1984

Creutzfeldt-Jakob disease of long duration: clinicopathological characteristics, transmissibility, and differential diagnosis.

Five to 10% of patients with Creutzfeldt-Jakob disease have a clinical course that extends for 2 years or more. In the present series 33 (9%) of 357 histopathologically verified cases, including 15 (7%) of 225 transmitted cases, fell into this long-duration category, the longest transmitted case having had a 13-year duration. As a group these cases were characterized by a higher familial representation (30%), a younger age at onset (average, 48 years), and lower frequencies of myoclonus (79%) and periodic electroencephalographic activity (45%) than occur in series of unselected cases. The clinical course most often showed a long, very slowly progressive first stage, with symptoms limited to intellectual deterioration or behavioral abnormalities, followed by a shorter, rapidly progressive terminal stage with both mental and physical deterioration. Although transmission of disease by primate inoculation was less successful in this group of long-duration cases (64%) than in cases of shorter duration (88%), incubation periods and durations of illness in the inoculated animals bore no relation to the duration of illness in the patients. Clinical differentiation from other chronic dementing processes, particularly Alzheimer's disease, can prove impossible; however, the correct pathological diagnosis was readily evident by light microscopic examination, and spongiosis was at least as prominent as gliosis in all but 4 (15%) of the 27 patients studied postmortem, the same frequency found in case series not selected for length of illness.

Adult↗

PubMed1984

Experimental scrapie in rats: first electrophysiological observations.

Scrapie was transmitted (1st passage) to various strains of rats through intracerebral (IC) inoculation of sheep-scrapie, mouse-scrapie and hamster-scrapie brains. For the 2nd passage, Wistar rats were chosen and inoculated IC with rat-scrapie brain from the 1st passage. Three groups of 12 rats were considered (S for sheep, M for mouse, H for hamster). Electrodes were chronically implanted for EEG recording. From 100 to 110 days after inoculation, EEG abnormalities were observed, consisting of spindle-shaped bursts of diphasic spikes sporadically occurring during quiet wakefulness. Between 130 and 230 days, EEG signs diversified and became more pronounced. Simultaneously, changes occurred in the sleep-wakefulness cycle: active wakefulness decreased and was replaced by quiet wakefulness (rats were motionless , as if prostrate ). Slow wave sleep diminished, giving way to an unstable low voltage sleep. EEG disturbances clearly preceded the onset of the clinical signs (the latter appearing at about the 8th month). The disease was fairly similar in the S, M and H groups. The interest of the experimental scrapie rat model is discussed in the framework of current research on the neurophysiology of the subacute spongiform encephalopathies.

Animals↗

PubMed1984

[Blood serotonin and histamine in sheep with endemic scrapie: initial results].

The whole blood histamine levels of sheep without clinical scrapie but living in infected farms, control, and scrapie infected sheep are not significantly different. By contrast whole blood serotonin is decreased both in sheep living in infected farms and in scrapie-infected sheep as compared to controls. Thrombopenia may account for the hyposerotoninemia of sheep living in infected farms except those genetically linked to scrapie-infected sheep for which, as for scrapie-infected sheep, platelet serotonin appears also to be diminished. Whole blood serotonin determination might therefore be useful to detect sheep living in infected farms (these sheep probably play an important role in scrapie infection) and perhaps also humans with high susceptibility to Creutzfeldt-Jakob disease.

Animals↗

PubMed1984

[Creutzfeldt-Jakob disease in the Paris metropolitan area. Study of annual mortality in different density zones in relation to the age of population].

A study of all patients with Creutzfeldt-Jakob disease in the Paris metropolitan area dying during the 13 year period 1968-1980 reveals a positive correlation between annual mortality and population density, that is independent of variation in population age structure. This observation is consistent with the hypothesis of random interhuman-disease transmission.

Adult↗

PubMed1984

[The OLA major histocompatibility complex of sheep. Genetic frequencies compared in Prélpe sheep with and without scrapie].

The OLA genic frequencies were studied in both normal "Préalpe" Sheep and those affected with Scrapie. In the non-affected Sheep of contaminated flocks, frequencies were generally decreased, compared with frequencies of the same factors in sick Sheep or in non-infected controls. Three OLA-A genes significantly decreased; at this locus, results in "Préalpe" and "Ile-de-France" Sheep were inversed. This observation excludes OLA genes being involved in pathogeny or resistance to the disease, but suggests the existence of a linkage between the OLA loci and at least one resistance or susceptibility locus.

Animals↗

PubMed1983

Familial Creutzfeldt-Jakob disease with extensive degeneration of white matter. Ultrastructure of peripheral nerve.

A case of Creutzfeldt-Jakob disease (CJD) in a 52-year-old man is described. At post mortem, extensive involvement of white matter was seen. A few similar cases have been reported mainly by Japanese authors. Our patients belonged to a French family in which 14 cases of CJD over three generations have been recorded. One of the patient's first cousins also had extensive white matter involvement. This is an unusual panencephalopathic form of CJD. The causes of the involvement of white matter are unknown. There was no clinical evidence of neuropathy but an electron-microscopic study of biopsied superficial peroneal nerve showed it to be present. Study of peripheral nerves is suggested for all patients with CJD.

Biopsy↗

PubMed1983

Correlation between population density and the frequency of Creutzfeldt-Jakob disease in France.

Epidemiologic studies of Creutzfeldt-Jakob disease (CJD) in countries throughout the world have consistently shown higher urban than national disease frequencies, but this finding has usually been ascribed to case-finding artefact. A detailed analysis has now been completed of annual mortality rates of CJD in France, based on a systematic study of 255 consecutive cases dying during the period 1968-1980, of whom 85 resided in the paris metropolitan area. In the country as a whole, the frequency of CJD increased from rural, through urban, to the Paris region; and in the Paris region, the frequency increased from the lowest to the highest density areas. The magnitude of this positive correlation between population density and the frequency of CJD is not explained by differences in age distribution of the various population groups, and suggests a role for random inter-human spread, either direct or indirect, in natural disease transmission.

Adult↗