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A collaborative study of human transmissible spongiform encephalopathies has been carried out from 1993 to 2000 and includes data from 10 national registries, the majority in Western Europe. In this study, we present analyses of predictors of survival in sporadic (n = 2304), iatrogenic (n = 106) and variant Creutzfeldt-Jakob disease (n = 86) and in cases associated with mutations of the prion protein gene (n = 278), including Gerstmann-Sträussler-Scheinker syndrome (n = 24) and fatal familial insomnia (n = 41). Overall survival for each disease type was assessed by the Kaplan-Meier method and the multivariate analyses by the Cox proportional hazards model. In sporadic disease, longer survival was correlated with younger age at onset of illness, female gender, codon 129 heterozygosity, presence of CSF 14-3-3 protein and type 2a prion protein type. The ability to predict survival based on patient covariates is important for diagnosis and counselling, and the characterization of the survival distributions, in the absence of therapy, will be an important starting point for the assessment of potential therapeutic agents in the future.

Original publication

DOI

10.1093/brain/awh249

Type

Journal article

Journal

Brain : a journal of neurology

Publication Date

10/2004

Volume

127

Pages

2348 - 2359

Addresses

Istituto Superiore di Sanità, Department of Cell Biology and Neurosciences Rome, Italy.

Keywords

Humans, Creutzfeldt-Jakob Syndrome, Prion Diseases, Gerstmann-Straussler-Scheinker Disease, Iatrogenic Disease, Prions, Codon, Population Surveillance, Proportional Hazards Models, Prospective Studies, Age of Onset, Age Distribution, Sex Distribution, Heterozygote, Mutation, Adolescent, Adult, Aged, Middle Aged, Child, Australia, Europe, Female, Male