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Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease

From the Departments of Neurology (Drs. Mastrianni and Prusiner), Biochemistry and Biophysics (Dr. Prusiner), and Pathology (Dr. DeArmond), University of California, San Francisco; and the Department of Genetics (Drs. Iannicola and Myers), Stanford University, Stanford, CA.
Supported by grants from the National Institutes of Health (NS14069, AG08967, AG02132, NS22786, and AG10770) and the American Health Assistance Foundation, as well as by gifts from the Sherman Fairchild Foundation, Bernard Osher Foundation, and National Medical Enterprises. Supported in part by the Howard Hughes Medical Institute (J.A.M.), a medical research organization.
Received December 15, 1995. Accepted in final form March 5, 1996.
Address correspondence and reprint requests to Dr. Prusiner, Department of Neurology, HSE-781, University of California, San Francisco, CA 94143-0518.

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.

NEUROLOGY 1996;47: 1305-1312

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