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
