Genetic analysis of Creutzfeldt-Jakob disease and related disorders.

  title={Genetic analysis of Creutzfeldt-Jakob disease and related disorders.},
  author={Lev G. Goldfarb and Paul Brown and Larisa Cerven{\'a}kov{\'a} and D. Carleton Gajdusek},
  journal={Philosophical transactions of the Royal Society of London. Series B, Biological sciences},
  volume={343 1306},
Genetic studies of over 200 cases of Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), fatal familial insomnia (FFI) and kuru have brought a reliable body of evidence that the familial forms of CJD and all known cases of GSS and FFI are linked to germline mutations in the coding region of the PRNP gene on chromosome 20, either point substitutions or expansion of the number of 24-nucleotide repeat units. Phenotypic expression of FFI and familial CJD, clinically and… CONTINUE READING


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