Article
The natural history study of preclinical genetic Creutzfeldt-Jakob Disease (CJD): a prospective longitudinal study protocol.
BMC neurology - 14 Apr 2023
Bregman Noa, Shiner Tamara, Kavé Gitit, Alcalay Roy, Gana-Weisz Mali, Goldstein Orly, Glinka Tal, Aizenstein Orna, Bashat Dafna Ben, Alcalay Yifat, Mirelman Anat, Thaler Avner, Giladi Nir, Omer Nurit
Abstract excerpt
BACKGROUND: Creutzfeldt-Jakob Disease (CJD) is the most common prion disease in humans causing a rapidly progressive neurological decline and dementia and is invariably fatal. The familial forms (genetic CJD, gCJD) are caused by mutations in the PRNP gene encoding for the prion protein (PrP). In Israel, there is a large cluster of gCJD cases, carriers of an E200K mutation in the PRNP gene, and therefore the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.