Article
Atypical Creutzfeldt-Jakob disease in an American family with an insert mutation in the PRNP amyloid precursor gene.
Neurology - 1 Feb 1992
Brown P, Goldfarb L G, McCombie W R, Nieto A, Squillacote D, Sheremata W, Little B W, Godec M S, Gibbs C J, Gajdusek D C
Abstract excerpt
An American family of English origin with an unusually early onset and long-duration form of Creutzfeldt-Jakob disease (CJD) had a heterozygous insert mutation in the region of repeating octapeptide coding sequences between codons 51 and 91 of the PRNP gene on chromosome 20. Affected members were 23 to 35 years old at the onset of illnesses that lasted from 4 to 13 years, yet experimental transmission of disease...
Topics
- Adult
- Amino Acid Sequence
- Amyloid beta-Protein Precursor
- Animals
- Base Sequence
- Blotting, Western
- Brain
- Cebus
- Creutzfeldt-Jakob Syndrome
- Female
- Humans