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Scientific Commentary |
Sporadic Creutzfeldt–Jakob disease: further twists and turns in a convoluted protein
| The first 150 words of the full text of this article appear below. |
Sporadic Creutzfeldt–Jakob disease (sCJD) is the commonest form of human prion disease, with an annual mortality rate of 
1–1.5 million cases per annum in most countries where systematic surveillance has been established (Ladogana et al., 2005
). The combined data from these studies have allowed analysis of hundreds of cases of this rare disease, as shown by Collins and colleagues, in this issue of Brain (Collins et al., 2006). The phenotypic spectrum of sCJD is broad, including several clinical subgroups that have been recognized for many years, amongst which are the Brownell–Oppenheimer and Heidenhain variants. The basis of this clinicopathological variation in sCJD has been studied for over 10 years, with the general consensus that the two major phenotypic determinants are the presence of either methionine or valine at the polymorphic codon 129 of the patient's prion protein gene (PRNP), and the physico-chemical properties of
National Creutzfeldt-Jakob disease Surveillance Unit, University of Edinburgh, Western General Hospital Edinburgh EH4 2 XU, UK
E-mail: james.ironside@ed.ac.uk