Familial Creutzfeldt-Jakob disease with a five-repeat octapeptide insert mutation.

doi:10.1212/wnl.47.3.727

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Article

Familial Creutzfeldt-Jakob disease with a five-repeat octapeptide insert mutation.

Neurology - 1 Sept 1996

Cochran E J, Bennett D A, Cervenáková L, Kenney K, Bernard B, Foster N L, Benson D F, Goldfarb L G, Brown P

Abstract excerpt

We report a familial form of Creutzfeldt-Jakob disease, associated with a unique insert mutation of the PRNP gene in an American family of Ukrainian origin. Ten family members exhibited early age at onset and long-duration illnesses characterized primarily by personality changes, cognitive impair...

Topics

Adult
Amino Acid Sequence
Creutzfeldt-Jakob Syndrome
Humans
Molecular Sequence Data
Mutation
Neuropsychological Tests
Pedigree

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