Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker's syndrome

The disease characteristics of different strains of scrapie in Sinc congenic mouse lines: implications for the nature of the agent and host control of pathogenesis

“…Similar host genetic controls are also likely to operate in the scrapie-like diseases in humans, Creutzfeldt-Jakob disease and Gerstmann-Str/iussler syndrome. Recently it has been shown that the occurrence of these conditions in some families is linked to the inheritance of variants of PrP Hsiao et al, 1989;Goldgaber et al, 1989;Doh-ura et al, 1990). Fundamental studies on the genetics of agent-host interactions in Sinc congenic mice are therefore relevant to the whole family of scrapie-like diseases.…”

Prions

“…Only the discovery that a proline-to-leucine mutation at codon 102 of the human PrP gene was genetically linked to some GSS pedigrees permitted the unprecedented conclusion that prion disease can have both genetic and infectious etiologies Prusiner 1989). This mutation has been found in unrelated families from several countries (Doh-ura et al 1989;Goldgaber et al 1989;Kretzschmar et al 1991), and other mutations causing GSS have since been identified (Dlouhy et al 1992;Petersen et al 1992;Poulter et al 1992;Rosenmann et al 1998).…”

MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study

“…28 Our criteria are consistent with the conventional World Health Organization definitions and required that the subjects have rapidly progressive neurologic dysfunction and behavioral changes of less than 2 years of duration with at least 2 of the following features being present at some point during their illness: dementia, myoclonus, visual or cerebellar symptoms, pyramidal or extrapyramidal dysfunction, or akinetic mutism. The relevant E200K mutation (prion protein gene, PRNP 20pter-p12) characteristic of fCJD in this ethnic group 24,29 was determined for all of the subjects by methods described previously. 2 Two of the 17 fCJD patients were excluded from the current analysis because their first MR imaging was obtained in the process of conversion from healthy to symptomatic, and it was unclear whether they met clinical criteria for a diagnosis of CJD at that point in time.…”