Table 1.
Clinical characteristics of the patients with the MAPT R406W mutation
| Ped 3367-P1 | Ped 3367-P2 | Ped 3367-P3 | Ped 3048-P1 | Ped 3048-P2 | Ped4550-P1 | |
|---|---|---|---|---|---|---|
| Age at onset, years | 51 | 47 | 50 | 56 | 54 | 68 |
| Age at examination, years | 56 | 48 | 67 | 73 | 67 | 77 |
| Duration of disease, years | 5 | 1 | 17 | 17 | 13 | 9 |
| MMSE score | 25 | 22 | 9 | 14 | 17 | 16 |
| Dementia stage | CDR1 | CDR 0.5 | CDR 2 | CDR 2 | FAST 5 | CDR 2 |
| Initial symptom | memory loss | memory loss | memory loss | memory loss | memory loss | memory loss |
| Memory impairment | +++ | +++ | +++ | +++ | +++ | +++ |
| Personality changes | − | − | + | − | − | + |
| Disinhibition | − | − | + | − | + | + |
| Parkinsonism | − | − | − | − | − | − |
| CSF tau level, pg/ml | 282 | 116 | n/a | n/a | n/a | n/a |
| CSF p181 tau level, pg/ml | 80 | 74 | n/a | n/a | n/a | n/a |
| APOE typing | 3∗4 | 3∗4 | 2∗3 | 3∗3 | 3∗3 | 2∗3 |
CDR = Clinical dementia rating scale; FAST = functional assessment stage; n/a = data not available; grading of severity of clinical features: – = absent, + = mild, ++ = moderate, +++ = severe.