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Various clinical presentations of familial prion disease

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

The various prion protein mutations and their associated phenotypes are given below:

  • similar to sporadic CJD:
    • codon 178 (with valine at codon 129)
    • codons 200, 210, 232
    • codon 198 may give a CJD syndrome
    • insert mutations may give CJD or GSS

  • slowly progressive dementia:
    • codon 145

  • slowly progressive ataxia, upper motor neurone signs and dementia:
    • codon 102 is the common cause of GSS
    • insert mutations may give CJD or GSS
    • codon 117

  • insomnia, dysautonomia and dementia:
    • codon 187 (with methionine at codon 129), the cause of FFI

Key:

  • CJD = Creutzfeldt-Jacob disease
  • GSS = Gerstmann-Straussler-Sheinker disease
  • FFI = fatal familial insomnia

Reference:

  • 1) Will, RG. "Prion related disorders". (1999) J. Roy. Col. Physicians. 33(4), 311-5

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