CJD Risk Factors: Analysis of 104 Patients

Abstract

The first, hypothetical explanation of the codon 200 mutation of the PrP gene in Slovak clustering CJD patients (1991) presumed a genetically increased susceptibility to exogenous (possibly zoonotic) infection. Later, worldwide-found patients with codon 200 mutation of PrP gene became generally accepted as “familial CJD”, regardless of certain non-explained observations, as an incomplete penetrance of the disease or phenotype, identical with sporadic CJD. To challenge this view a re-evaluation of data on CJD in Slovakia (annual occurrence of CJD/mill./year since 1975 varied from 1.2-0.8–2.0-1.0) has been done. A total of 104 patients, 65 with and 39 without kodon 200 mutation, have been analysed and compared from the histopathological, epidemiological and molecular biological point of view. Special attention has been paid to patients with long duration of clinical stage and age at death below 40, to a professional risk, as well as to codon 129 polymorphism. Obtained results are discussed in relation to the possible role of exogenous risk factors.