Genetic Prion Disease mutations are inherited in an autosomal dominant pattern. Therefore, if one parent carries the mutation there is a 50-50 chance for each child to inherit the gene.
If a blood relative has had prion disease confirmed by autopsy, family members can be genetically tested for the prion disease mutation. Genetic testing can be easily accomplished from a small sample of blood, but the choice of learning the result is a very individual matter and should never be made without the involvement of a knowledgeable genetic counselor and serious thought about the consequences.
Watch this recorded Genetic Prion Disease webinar to learn from Dr. Brian Appleby, Medical Director, CJD Foundation, and Director, National Prion Disease Pathology Surveillance Center.