Familial Creutzfeldt-Jakob Disease

A progressive neurological disorder with adult onset resulting in dementia, loss of motor function, and death within 5 years of disease onset. Preconception (carrier) screening is not recommended for Familial Cruetzfeldt-Jakob Disease. Shortened life expectancy. Cognitive impairment. Physical impairment.

Important note:
This condition is autosomal dominant and very different from the other conditions described on this website. Mutation testing predicts if the adult will develop symptoms of the condition, not any future children. Testing should be done only after having pre-test counseling with a genetic counselor and/or a neurologist. The E200K mutation is common in Libyan Jews, but other mutations have been reported.

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