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.
Goldfarb
L G
LG
Laboratory of CNS Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.
Brown
P
P
Little
B W
BW
Cervenáková
L
L
Kenney
K
K
Gibbs
C J
CJ
Gajdusek
D C
DC
D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D001483:Base Sequence; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000473:pathology; D004247:DNA / Q000097:blood; D004251:DNA Transposable Elements; D005260:Female; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009778:Occipital Lobe / Q000473:pathology; D012091:Repetitive Sequences, Nucleic Acid
D004251:DNA Transposable Elements; D004247:DNA