Mutation | Codon 129 genotype | PrP deposits | NFT | A4 deposits | Duration | Clinical signs | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Mutant all | Normal all | ||||||||||||
P102L23 | Met or Val | Met or Val | ++ | − | − | 6 y | Ataxia, late dementia | ||||||
P105L24 | Val | Met? | ++ | − | − | 9 (3) y | Spastic paraparesia, late demensia | ||||||
A117V | |||||||||||||
French family | Val | Met | ++ | ±1-150 | ±1-150 Around PrP plaques | 1 to 14 y | Pyramidal and extrapyramidal signs, ataxia, dementia | ||||||
American family20 | Val | Met | ++ | − | − | 2 to 6 y | Dementia, extrapyramidal signs | ||||||
American family25 | Val | Val | ++ | − | − | 2.5 y? | Ataxia±demetia | ||||||
Y145 stop1-150 4 28 | Met | ? | ++ | + | − | 20 y | Dementia | ||||||
F198S† 2 16 | Val | Val or Met | ++ | ++ | ±1-150Around PrP plaques | 6 (3) y | Ataxia and dementia | ||||||
Q217R† 3 | Val | Met | ++ | ++ | ++ Senile plaques, angiopathy amyloid | 4 y | Dementia and ataxia |
↵1-150 Present in only one patient; † mutation described in only one family.
+ = Present; − = absent; ± = inconstant; ? = unknown; NFT = neurofibrillary tangles; PrP = prion protein.