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Prion research Göttingen

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