Article
A prion disease with a novel 96-base pair insertional mutation in the prion protein gene.
Neurology - 1 Mar 1996
Campbell T A, Palmer M S, Will R G, Gibb W R, Luthert P J, Collinge J
Abstract excerpt
There are coding mutations in the prion protein gene in familial Creutzfeldt-Jakob disease (CJD), Gerstmann-Straussler-Scheinker disease, and other phenotypes that make up the inherited prion diseases. Insertional mutations consisting of two, five, six, seven, eight, and nine additional octapeptide repeat elements are seen in the inherited prion diseases and usually present as atypical dementias with considerable...
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