Article
Creutzfeldt-Jakob disease with E200K PRNP mutation: a case report and revision of the literature.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Oct 2009
Mancuso Michelangelo, Siciliano Gabriele, Capellari Sabina, Orsucci Daniele, Moretti Policarpo, Di Fede Giuseppe, Suardi Silvia, Strammiello Rosaria, Parchi Piero, Tagliavini Fabrizio, Murri Luigi
Abstract excerpt
Creutzfeldt-Jakob disease (CJD) is typically characterized by rapidly progressive dementia and myoclonus, and it is caused by a conformational change of the prion protein. The heritable forms are associated with mutation in the gene encoding the prion protein (PRNP). We report a 63-year-old Italian woman harboring the E200K PRNP mutation. Electroencephalogram, cerebrospinal fluid analysis, PRNP gene sequencing,...
Topics
- Creutzfeldt-Jakob Syndrome
- DNA Mutational Analysis
- Female
- Glutamic Acid
- Humans
- Lysine
- Middle Aged
- Mutation
- Prion Proteins
- Prions