Table 2

 Clinical features of all cases

PRNP mutationPersonality change/ depressionCognitive declineSensory symptomsChoreadystoniaMyo-clonusAtaxiaPyramidalExtrapyramidalMR atrophyMRI signal changeEEG periodic complexesEEG non-specific abnormalities
*Seven octarepeat insertion.
F, familial; NA, not available; NT, not tested; S, sporadic; V, variant.
V1−++++−++−−Thalamus−+
V2−++++−+−−−Thalamus−+
V3−+++++++−−Thalamus−+
V4−++−++−+−−Thalamus−+
V5−++++−++−−Thalamus−+
V6−++−+−+−−−Thalamus−+
V7−+++−−++−−Thalamus−+
V8−+++++++−−Thalamus−+
V9−−+−++++−−Thalamus−−
V10−++++−++−−Occipital−+
white
V11−++−++++−−−−+
V12−++−−−−+−−−−+
F1144−+−−−+−++−−+
F2P102L++NANA−++−−−−+
F3P102L++−−−++−+−−+
F4A117V−+−−+++++−NTNT
F5A117V++−−−+−−+White−+
matter
F6E200K++−−+++−+−−+
F7E200K−−−+++−−−−−+
F8144++NANA−+−++−−+
F9Novel*+++−−++−−Mesial−+
frontal
F10144++NANA++−−+−−+
F11144++−−−+−−+−−+
F12144−+−−++−++−−+
F13144++−−−+−−+−−+
F14144++−−−−−−+−−+
F15144−+−−−+−−+−−+
F16144++−−++−++−NANA
F17144++−−−+−−+−−−
F18144−+−−−−−−+−−+
S1−−+−+++−−−−−+
S2−++−+−−++NANANANA
S3−++−−+−++−Cortical+−
S4−−+−−−−−−+−−+
S5−++−−++−−+−NANA
S6−−+−−−+−+−−−+
S7−++−−+++−−Caudate,−+
lentiform
S8−++−−−−−−−−NANA
S9−+++++−++−−+−
S10−−+−++++−NTNT−−