[Familial Creutzfeldt-Jakob disease. A clinical and pathological study of three cases in a family with eight affected members in three generations (author's transl)].
We report here a family with three pathologically confirmed cases of Creutzfeldt-Jakob disease in three siblings and with transmission of one case to the squirrel monkey. This family, originating from the South-East of England, settled in France in 1870. Eight members of the family, distributed in three generations, were affected by the disease at the same age (about 50), with similar symptoms and length of evolution. Two cases were confirmed at post-mortem and one case by cerebral biopsy. The genealogic inquiry dealth with 46 members of 5 generations. All the affected members, six men and two women, belonged to the three older generations which were comprised of 15 individuals. All had lived in close relationship in a limited area of the north of Ardennas. The possible mechanisms of dominant inheritance or cross infection are discussed.
D000818:Animals; D001706:Biopsy; D002540:Cerebral Cortex / Q000473:pathology; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000473:pathology / Q000635:transmission / Q000662:veterinary; D005260:Female; D000882:Haplorhini; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D008992:Monkey Diseases / Q000473:pathology / Q000635:transmission; D010375:Pedigree; D012453:Saimiri
Maladie de Creutzfeldt-Jakob familiale. Etude clinique et anatomique de trois cas sur huit répartis sur trois générations. Transmission au singe écureuil.