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| Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease |
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| Author(s): Mastrianni JA, Iannicola C, Myers RM, DeArmond S, Prusiner SB |
| Source: NEUROLOGY Volume: 47 Issue: 5 Pages: 1305-1312 Published: NOV 1996 |
| Times Cited: 25 References: 54 |
| Abstract: Four point mutations and one insertion within the prion protein (PrP) gene have been tightly linked to the development of inherited prion disease. We developed a denaturing gradient gel electrophoresis system that allowed us to screen the entire open reading frame of the PrP gene. Using this system, we found a new mutation of the PrP gene in a patient with pathologically confirmed Creutzfeldt-Jakob disease and a negative family history for dementia. DNA sequencing revealed an adenine substitution for guanine at the second position of codon 208, which results in the nonconservative substitution of histidine for arginine. The same PrP mutation was identified in another younger member of the pedigree but was not present in more than 200 alleles tested. Such findings suggest that the frequency of inherited prion disease might be higher than ascertained by clinical history alone. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV CALIF SAN FRANCISCO, DEPT NEUROL, SAN FRANCISCO, CA 94143 USA
2. UNIV CALIF SAN FRANCISCO, DEPT BIOCHEM & BIOPHYS, SAN FRANCISCO, CA 94143 USA
3. UNIV CALIF SAN FRANCISCO, DEPT PATHOL, SAN FRANCISCO, CA 94143 USA
4. STANFORD UNIV, DEPT GENET, STANFORD, CA 94305 USA |
| Publisher: LITTLE BROWN CO, 34 BEACON STREET, BOSTON, MA 02108-1493 |
| Subject Category: Clinical Neurology |
| IDS Number: VR425 |
| ISSN: 0028-3878 |
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