NR AEQW
AU Goldfarb,L.G.; Brown,P.; Little,B.W.; Cervenakova,L.; Kenney,K.; Gibbs,C.J.Jr.; Gajdusek,D.C.
TI A new (two-repeat) octapeptide coding insert mutation in Creutzfeldt-Jakob disease
QU Neurology 1993 Nov; 43(11): 2392-4
KI Neurology. 1995 Jul;45(7):1428. PMID: 7677893
PT journal article
AB 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.
MH Aged; Aged, 80 and over; Amino Acid Sequence; Base Sequence; Case Report; Creutzfeldt-Jakob Syndrome/*genetics/pathology; DNA/blood; *DNA Transposable Elements; Female; Human; Middle Age; Molecular Sequence Data; Occipital Lobe/pathology; *Repetitive Sequences, Nucleic Acid
AD Laboratory of CNS Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.
SP englisch
PO USA