Table 2.
Individual genetic mutation of cases with familial Alzheimer’s disease
| Carrier | Mutation | Age at death (year) | Gender | Braak NFT stage | Cortical amyloid-β40 level in GuHCl fraction (ng/mg) | Cortical amyloid-β42 level in GuHCl fraction (ng/mg) |
|---|---|---|---|---|---|---|
| APP | Duplication | 50 | F | VI | 197.4 ± 44.5 | 52.2 ± 3.1 |
| PSEN1 | I143T | 38 | F | VI | 9.8 ± 2.9 | 195.9 ± 6.5 |
| PSEN1 | Y288F | 51 | M | VI | 134.6 ± 43.3 | 55.5 ± 9.8 |
| PSEN1 | L392V | 50 | M | VI | 137.9 ± 62.5 | 121.0 ± 18.4 |
| PSEN1 | N135S | 44 | M | VI | 25.6 ± 6.5 | 33.9 ± 3.0 |
| PSEN1 | N135S | 37 | F | VI | 17.0 ± 8.9 | 39.1 ± 3.4 |
| PSEN1 | N135S | 57 | F | VI | 47.8 ± 11.4 | 52.1 ± 4.8 |
| PSEN1 | G378V | 51 | F | VI | 12.1 ± 2.9 | 90.2 ± 20.3 |
| PSEN1 | G206A | 64 | M | VI | 123.3 ± 33.7 | 86.8 ± 8.7 |
| APP | V717F | 58 | M | VI | 2.6 ± 0.5 | 97.9 ± 10.2 |
Values are mean ± SE for cortical amyloid-β40 level in GuHCl fraction and cortical amyloid-β42 level in GuHCl fraction.
NFT = neurofibrillary tangles; F = female; M = male.