Creutzfeldt-Jakob disease with E200K mutation in Slovakia: characterization and development.

Abstract excerpt

Creutzfeldt-Jakob disease (CJD), the most important human prion disease, occurs in sporadic, iatrogenic and familial form. Except Slovakia and Israel, the recorded familial cases have never exceeded 10-15%. In the Slovak CJD group 95 out of 136 CJD cases (74.2%) carried a CJD-specific mutation in the prion protein gene (PRNP) at codon 200 (mutation E200K). All CJD(E200K) patients carried a heterozygous E200K...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Amino Acid Substitution
• Share to Creutzfeldt-Jakob Syndrome
• Share to Methionine