Table 1 Clinical characteristics of identified variants
PSEN1 variants and number of family members | AAO mean (Range) | LATAM Country report | Predominant clinical presentation | Clinical domains with significant impairment throughout the disease | ||||
|---|---|---|---|---|---|---|---|---|
No. affected family members | Memory | Behavior | Motor | Language | ||||
p.Val103_Ser104delinsGly n=13 | 37.8 (34–38) | Brazil | Amnestic/language | 7 | +++ | − | + | ++ |
p.Ala275Thr n=4 | 50.5 (45–56) | Brazil | Amnestic/behavioral | 2 | +++ | ++ | − | ++ |
p.Lys395Ile n=7 | 51.7 (50–54) | Brazil | Amnestic | 4 | +++ | + | ++ | − |
p.Pro264Ser n=7 | 48.5 (45–52) | Brazil | Amnestic | 3 | +++ | − | − | − |
p.Ile414Thr n=12 | 54.0 (50–58) | Mexico | Amnestic/behavioral | 6 | ++ | ++ | + | − |