Article
Estimation of the number of inherited prion disease mutation carriers in the UK.
European journal of human genetics : EJHG - 1 Oct 2022
Corbie Rosie, Campbell Tracy, Darwent Lee, Rudge Peter, Collinge John, Mead Simon
Abstract excerpt
Inherited prion diseases (IPD) are a set of rare neurodegenerative diseases that are always caused by mutation of the prion protein gene (PRNP). These are highly heterogeneous in clinical presentation and best described by the specific gene mutation, but traditionally include the canonical syndromes familial Creutzfeldt-Jakob disease, Gerstamann-Straussler-Scheinker syndrome, and fatal familial insomnia. In the...
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