Between 1992 and 1995, the annual incidence of Creutzfeldt–Jakob disease (CJD) in one of the 96 French départments (adminstrative districts) was found to be about six times higher than the CJD national incidence. Among the 12 definite or probable CJD patients referred during this period within this département, nine originated from a small confined area (30 × 30 km) and seven patients carried the E200K mutation in their prion protein gene (PRNP). Genealogical data showed that these seven cases, together with three other ones previously referred during the 1970–82 period, probably belonged to different branches of the same family which could be traced to the beginning of the eighteenth century. Interestingly enough, all but two patients presented as sporadic cases before the genealogic and genetic studies. To our knowledge, this study is the first describing in France a focal accumulation of CJD associated with the PRNP E200K mutation.

Les auteurs décrivent une méthode électro-chimique qui permet de révéler la présence d’un composé particulier dans l’urine de moutons atteints de tremblante.

Des explorations urodynamiques ont été effectuées chez 8 brebis normales et chez 8 brebis atteintes de tremblante. Les brebis malades présentent un taux élevé de contractions vésicales en phase de remplissage (contractions non inhibées du détrusor) et une instabilité urétrale. Les autres paramètres de l’étude urodynamique ne sont pas modifiés de façon significative. Ces troubles du fonctionnement de l’appareil vésico-sphinctérien sont comparés à des troubles observés chez l’homme au cours de certaines affections du système nerveux central.

Les encéphalopathies spongiformes subaiguës dues à un agent transmissible non conventionnel (ATNC) sont caractérisées cliniquement par des troubles nerveux sensitifs et moteurs évoluant, après une longue période d’incubation, vers une grande misère physiologique et une issue toujours fatale. Dans les conditions naturelles le principal mode de contagion est la voie orale (aliment souillé, protéines animales non décontaminées...). Le fait qu’une composante génétique intervienne dans la réceptivité des animaux à l’ATNC peut laisser penser à une maladie héréditaire. Ceci conduit l’éleveur à ne pas signaler l’existence de la maladie dans son élevage, lorsque celle-ci n’est pas soumise à déclaration obligatoire.

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).

Discovery of a second affected branch of a family with transmitted Creutzfeldt-Jakob disease (CJD), originally reported by Buge et al. in 1978, brings the total number of cases to 14 in 3 generations, with at least 20 members of the next young adult generation presently at risk. Complete segregation of the illness to the descendants of these 2 branches, with no skipped generations, and an overall frequency of CJD in affected sibships of 56%, clearly defines a pattern of autosomal dominance. The disease is indifferent to sex, either in terms of affected members (8 males and 6 females) or of lineage (3 fathers and 3 mothers). Acquisition of CJD virus from a point source contamination is unlikely, and case-to-case transmission, if it occurred, would have required an average minimum incubation period of 17 years.

Des 3782 petits mammifères sauvages capturés au cours d'une enquête poursuivie pendant plus de 4 ans, 15,78% sont contaminés par des dermatophytes.