Diagnostic criteria for genetic TSE

Definite:

  • Neuropathologically confirmed TSE + definite or probable TSE in one first-degree relative
  • Neuropathologically confirmed TSE and presence of a pathogenic PRNP mutation (see list below)


Probable:

  • Progressive neuropsychiatric disorder and confirmed or probable TSE in a first-degree relative
  • Progressive neuropsychiatric disorder and presence of a pathogenic PRNP mutation (see list below)



  • PRNP mutations associated to GSS
    P102L, P105L, A117V, G131V, F198S, D202N, Q212P, Q217R, M232T,192 bpi
  • PRNP mutations associated to CJD phenotype
    D178N-129V, V180I, V180I+M232R, T183A, T188A, E196K, E200K, V203I, R208H, V210I, E211Q, M232R, 96 bpi, 120 bpi, 144 bpi, 168 bpi,48 bpdel
  • PRNP mutations associated to FFI
    D178N-129M
  • PRNP mutations associated to confirmed (but not classified) prion disease
    H187R, 216 bpi
  • PRNP mutations associated to a neuropsychiatric disease, but not to confirmed prion disease
    I138M, G142S,Q160S,T188K, M232R, 24 bpi, 48 bpi, 48 bpi