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 | ++ | ++ | + | − |
AAO Age at onset