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

@article{Cochran1996FamilialCD,
  title={Familial Creutzfeldt-Jakob disease with a five-repeat octapeptide insert mutation.},
  author={Elizabeth J. Cochran and David A. Bennett and Larisa Cerven{\'a}kov{\'a} and K W Kenney and Bryan Bernard and Norman L. Foster and D. Frank Benson and Lev G. Goldfarb and Paul Brown},
  journal={Neurology},
  year={1996},
  volume={47 3},
  pages={727-33}
}
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 impairment, and spasticity. The proband, presenting at age 42 years, exhibited a fairly stable, nonprogressive course over 7 years, followed by precipitous decline and death in the eighth year. Other affected… CONTINUE READING
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