Journal article
Genetic prion disease: The EUROCJD experience
GG Kovács, M Puopolo, A Ladogana, M Pocchiari, H Budka, C van Duijn, SJ Collins, A Boyd, A Giulivi, M Coulthart, N Delasnerie-Laupretre, JP Brandel, I Zerr, HA Kretzschmar, J de Pedro-Cuesta, M Calero-Lara, M Glatzel, A Aguzzi, M Bishop, R Knight Show all
Human Genetics | SPRINGER | Published : 2005
Abstract
A total of 10-15% of human transmissible spongiform encephalopathies (TSEs) or prion diseases are characterised by disease-specific mutations in the prion protein gene (PRNP). We examined the phenotype, distribution, and frequency of genetic TSEs (gTSEs) in different countries/geographical regions. We collected standardised data on gTSEs between 1993 and 2002 in the framework of the EUROCJD collaborative surveillance project. Our results show that clinicopathological phenotypes include genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker disease (GSS). Genetic TSE patients with insert mutation in the PRNP represent a separate group. Poin..
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