Table 2.
Clinical and demographic data from PSEN1 mutations carriers from whom CSF was analyzed
| Group | PSEN1 mutation | Age (years) | MMSE score | CSF Aβ42 levels (pg/ml) | Effects on Aβ productiona |
|---|---|---|---|---|---|
| Healthy controls | |||||
| 1 | – | 25.1 | 29 | 667 | – |
| 2 | – | 35.4 | 29 | 647 | – |
| 3 | – | 34.7 | 30 | 691 | – |
| 4 | – | 38.8 | 29 | 578 | – |
| 5 | – | 51.7 | 29 | 430 | – |
| 6 | – | 43.8 | 29 | 734 | – |
| 7 | – | 42.3 | 28 | 769 | – |
| Presymptomatic PSEN1 mutation carriers | |||||
| 8 | M139T | – | 30 | 822 | Aβ1-42/Aβtot↑ |
| 9 | M139T | – | 30 | 753 | – |
| 10 | M139T | – | 28 | 655 | – |
| 11 | M139T | – | 29 | 505 | – |
| 12 | K239N | – | 29 | 1091 | NA |
| Symptomatic PSEN1 mutation carriers | |||||
| 13 | L235R | 46 | 11 | 279 | NA |
| 14 | L282R | 46.3 | 22 | 199 | NA |
| 15 | L286P | 37.3 | 28 | 166 | NA |
| 16 | L286P | 42.6 | 24 | 163 | NA |
| 17 | L286P | 44.7 | 24 | 165 | NA |
The age has been omitted in presymptomatic mutation carriers to protect confidentiality
MMSE Mini-Mental State Examination, NA not available