NR ACIW
AU Cathala,F.; Chatelain,J.C.; Brown,P.; Dumas,M.; Gajdusek,D.C.
TI Familial Creutzfeldt-Jakob disease. Autosomal dominance in 14 members over 3 generations.
QU Journal of the Neurological Sciences 1980 Sep; 47(3): 343-51
PT journal article
AB Discovery oa 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.
MH Case Report; Creutzfeldt-Jakob Syndrome/etiology/*genetics; Genes, Dominant; Human; Pedigree; Support, Non-U.S. Gov't
SP englisch
PO Niederlande