NR ABVD
AU Brown,P.; Galvez,S.; Goldfarb,L.G.; Nieto,A.; Cartier,L.R.; Gibbs,C.J.Jr.; Gajdusek,D.C.
TI Familial Creutzfeldt-Jakob disease in Chile is associated with the codon 200 mutation of the PRNP amyloid precursor gene on chromosome 20
QU Journal of the Neurological Sciences 1992 Oct; 112(1-2): 65-7
PT journal article
AB We have found the codon 200Lys mutation in 6 Chilean CJD families, including a family in the rural case cluster in Chillan. Thus, all 3 of the known clusters of CJD, in Slovakia, Libyan-born Israeli Jews, and Chile, are linked to the presence of the same mutation. The phenotypic features of the disease in these families are similar to those reported for other clustered or individual families elsewhere in the world. The heterogeneous genetic composition of the Chilean population interpreted in light of historical migration patterns suggests that the mutation may have entered Chile by Jewish emigration from Spain.
IN In 6 chilenischen Familien ist die erbliche Creutzfeldt-Jakob-Krankheit ebenso wie zuvor schon bei betroffenen in Lybien geborenen Juden und kranken Slovaken beobachtet, mit einer Lysin-Mutation im Codon 200 des Gens des Prionproteins auf dem Chromosom 20 verbunden.
MH Adult; Aged; Amyloid beta-Protein Precursor/biosynthesis/*genetics; Brain/pathology; Brain Chemistry; *Chromosomes, Human, Pair 20; Codon; Creutzfeldt-Jakob Syndrome/*genetics/pathology; Female; Human; Male; Middle Age; Mutation; Pedigree; Phenotype; Spleen/pathology
AD Paul Brown (pwb@codon.nih.gov), Lev G. Goldfarb, Ana Nieto, C. J. Gibbs, Jr., D. Carleton Gajdusek, Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA; Sergio Galvez, Institute de Neurocirurgia e lnvestigaciones Cerebrales, Santiago de Chile, Chile; Luis Cartier, Departamento de Neuropatologia del Servicio de Neurologia, Hospital Salvador, Santiago de Chile, Chile
SP englisch
PO Niederlande