A new (two-repeat) octapeptide coding insert mutation in Creutzfeldt-Jakob disease.
We report a family in which the proband died of clinically typical, neuropathologically verified Creutzfeldt-Jakob disease; her still-living mother suffers from a progressive dementia of many years' duration, and her maternal grandfather died after a similar illness. The proband, her mother, and two of three young first-degree relatives all have an identical insert mutation in the PRNP gene consisting of a twice-repeated 24-nucleotide sequence in the region between codons 51 and 91.
Published In/Presented At
Goldfarb, L. G., Brown, P., Little, B. W., Cervenáková, L., Kenney, K., Gibbs, C. J., Jr, & Gajdusek, D. C. (1993). A new (two-repeat) octapeptide coding insert mutation in Creutzfeldt-Jakob disease. Neurology, 43(11), 2392–2394. https://doi.org/10.1212/wnl.43.11.2392
Medicine and Health Sciences
Department of Pathology and Laboratory Medicine