NR ABVF
AU Brown,P.; Goldfarb,L.G.; Kovanen,J.; Haltia,M.; Cathala,F.; Sulima,M.; Gibbs,C.J.Jr.; Gajdusek,D.C.
TI Phenotypic characteristics of familial Creutzfeldt-Jakob disease associated with the codon 178Asn PRNP mutation
QU Annals of Neurology 1992 Mar; 31(3): 282-5
PT journal article
AB A group of 43 patients from seven families affected by Creutzfeldt-Jakob disease (CJD) with the codon 178Asn mutation of the PRNP amyloid precursor gene is compared to a group of 211 patients with the sporadic form of the disease. As a group, the patients with the codon 178Asn mutation had an earlier age at onset of illness (almost always presenting as an insidious loss of memory), a longer duration of illness, and an absence of periodic electroencephalographic activity. Transmission of disease to primates was accomplished using brain tissue homogenates from 6 of 10 patients, resulting in significantly shorter incubation periods than those due to sporadic CJD inocula. These findings are interpreted and discussed in terms of possible differences in the temporospatial evolution of damage to the brain, and of accelerated induction of polymerized amyloid protein by its mutationally altered template precursor.
IN Bei 43 Creutzfeldt-Jakob-Patienten aus 7 Familien mit einer Asparaginsäure-zu-Asparagin-Mutation im Codon 178 des Prionproteingens begann die Erkrankung mit Gedächtnisverlusten früher und das Leiden dauerte länger als bei 211 Patienten mit scheinbar sporadisch erworbener Krankheit. Gehirnhomogenate der Erbkranken übertrugen die Krankheit mit deutlich kürzeren Inkubationszeiten als solche von sporadisch erkrankten Patienten auf Affen. Bei den 43 Creutzfeldt-Jakob-Patienten mit der Codon-178-Mutation fehlte die typische periodische elektroencephalographisch meßbare Aktivität.
MH Age Factors; Animal; Cats; Codon; Creutzfeldt-Jakob Syndrome/*genetics/pathology/transmission; Female; Genes, Structural; Guinea Pigs; Human; Male; Middle Age; Mutation; Myoclonus/etiology; Phenotype; PrPc Proteins; Primates; Prions/*genetics; Protein Precursors/*genetics; Tissue Extracts
AD Paul Brown (pwb@codon.nih.gov), Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
SP englisch
PO USA