Table 2.
Demographic and clinical profile of PSEN1 E280A patients used for deep phenotyping grouped according to age of onset
| Group/Onset | Age of Onset | Age of Death | Disease Duration | Postmortem Index | Gender (F) | ApoE Haplotype (ApoE4) | Age of Onset, Affected Parent | Memory Impairment | Language Impairment | Parkinsonism | Seizures / Myoclonus | Abnormal gait | Behavioral changes | Depression | Cerebellar Signs | Headache | Sleep Disorder |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EOFAD | 37 | 47 | 10 | 138 | F | NA | NA | + | + | + | + | + | + | - | + | + | + |
| 39 | 59 | 20 | 222 | F | 3/3 | 40 | + | + | + | - | + | - | + | ||||
| 40 | 59 | 19 | 360 | F | 3/3 | 51 | + | + | + | + | + | + | + | - | + | - | |
| 40 | 42 | 2 | 330 | F | 3/3 | NA | + | + | + | + | - | - | + | + | - | - | |
| 42 | 50 | 8 | 450 | F | 3/4 | NA | + | + | + | - | - | + | + | + | + | - | |
| 43 | 57 | 14 | 240 | F | 3/4 | NA | + | + | + | + | + | + | + | - | - | - | |
| 44 | 52 | 8 | 288 | M | 3/3 | NA | + | + | + | + | + | - | - | + | - | - | |
| 46 | 66 | 20 | 240 | F | 3/3 | 43 | + | + | - | + | + | - | - | ||||
| Mean (SD) | 41.38 (2.93) | 54.00 (7.71) | 12.63 (6.67) | 283.50 (95.99) | (87.5%) | (25%) | 100% | 100% | 87.5% | 75% | 75% | 50% | 50% | 50% | 37.5% | 25% | |
| AOFAD | 47* | 54 | 7 | 330 | F | 3/3 | 57 | + | + | + | + | + | - | + | + | + | - |
| 47* | 56 | 9 | 198 | M | 3/3 | 57 | + | + | + | + | + | + | + | + | - | + | |
| 47 | 58 | 11 | 210 | M | 3/3 | NA | + | + | + | + | + | + | + | - | + | - | |
| 48 | 64 | 16 | 180 | F | 3/3 | NA | + | + | + | + | + | - | - | + | - | - | |
| 49 | 62 | 13 | 240 | F | 4/4 | NA | + | + | + | + | - | + | + | + | - | + | |
| 49** | 55 | 6 | 168 | M | 3/3 | NA | + | + | + | + | - | + | - | - | - | - | |
| 50** | 60 | 10 | 168 | F | 3/3 | NA | + | + | + | + | + | + | + | - | - | - | |
| Mean (SD) | 48.14 (1.22) | 58.43 (3.75) | 10.29 (3.45) | 213.43 (57.43) | (57.1%) | (14.3%) | 100% | 100% | 100% | 100% | 71.4% | 71.4% | 71.4% | 57.1% | 28.6% | 28.6% | |
| LOFAD | 52 | 68 | 16 | 384 | F | 3/3 | NA | + | + | + | + | - | + | - | + | + | + |
| 53 | 60 | 7 | 240 | M | 3/4 | NA | + | + | + | + | + | + | - | + | - | - | |
| 54 | 63 | 9 | 330 | M | 3/3 | NA | + | + | + | - | + | + | + | - | - | + | |
| 55 | 64 | 9 | 180 | F | NA | NA | + | + | + | + | + | - | + | - | + | + | |
| 56 | 63 | 7 | 228 | M | NA | NA | + | + | + | + | + | + | + | + | - | + | |
| 58 | 71 | 13 | 300 | F | 3/3 | NA | + | + | + | + | + | - | + | - | + | - | |
| 58 | 70 | 12 | 192 | F | 3/3 | NA | + | + | + | + | + | + | + | - | - | - | |
| 62 | 74 | 12 | 330 | F | 3/3 | NA | + | + | + | + | + | - | - | - | - | - | |
| Mean (SD) | 56.00 (3.25) | 66.63 (4.84) | 10.63 (3.16) | 273.00 (73.55) | (62.5%) | (12.5%) | 100% | 100% | 100% | 87.5% | 87.5% | 62.5% | 62.5% | 37.5% | 37.5% | 50% | |
| Total FAD | 48.52 (6.74) | 59.39 (8.15) | 10.83 (4.85) | 258.52 (80.64) | (56.5%) | (17.4%) | 100% | 100% | 95.7% | 87.0% | 78.3% | 60.9% | 60.9% | 47.8% | 34.8% | 34.8% |
F = Female, M = Male, SD = Standard deviation, *=siblings, **=siblings