Table 5. CSF biomarkers levels in mutation carriers (pg/mL).
| Gene | Mutation | ID | Aβ42 | Tau | p-Tau | PLM |
|---|---|---|---|---|---|---|
| PSEN1 | p.Ala79Val | EXT 85 | 494 | >1,200 | 206 | 3 |
| PSEN1 | p.Thyr115Cys | EXT 755 | 622 | 207 | 68 | 3 |
| PSEN1 | p.Pro117Gln | EXT 851 | 587 | >1,200 | 173 | 3 |
| PSEN1 | p.Ile143Thr | EXT 670 | 393 | >1,200 | 84 | 3 |
| PSEN1 | p.Met146Ile | EXT 622 | 543 | 857 | 105 | 3 |
| PSEN1 | p.His163Arg | EXT 1242 | 615 | >1,200 | 129 | 3 |
| PSEN1 | p.His163Arg | EXT 766 | 434 | 849 | 66 | 3 |
| PSEN1 | p.Phe205_Gly206 delinsCys | EXT 177 | 376 | 397 | 91 | 3 |
| PSEN1 | p.Met210Arg | EXT 832 | 235 | 672 | 104 | 3 |
| PSEN1 | p.Gln222His | EXT 807 | 502 | 1,000 | 132 | 3 |
| PSEN1 | p.Ala231Thr | EXT 680 | 772 | 1,028 | 113 | 2 |
| PSEN1 | p.Met233Thr | EXT 1201 | 440 | 692 | 107 | 3 |
| PSEN1 | p.Phe237Leu | EXT 1127 | 430 | >1,200 | 142 | 3 |
| PSEN1 | p.Leu241Arg | EXT 504 | 464 | 595 | 94 | 3 |
| PSEN1 | p.Ala246Pro | EXT 1194 | 470 | 523 | 80 | 3 |
| PSEN1 | p.Cys263Phe | EXT 1193 | 561 | 993 | 121 | 3 |
| PSEN1 | p.Cys263Phe | EXT 768 | 454 | 368 | 66 | 3 |
| PSEN1 | p.Pro264Leu | EXT 966 | 543 | 731 | 92 | 3 |
| PSEN1 | p.Pro264Leu | EXT 1010 | 445 | 696 | 92 | 3 |
| PSEN1 | p.Arg269His | EXT 1228 | 231 | 558 | 111 | 3 |
| PSEN1 | p.Glu273Gly | EXT 886 | 541 | >1,200 | 165 | 3 |
| PSEN1 | P.Glu273Gly | EXT 1195 | 643 | 767 | 104 | 3 |
| PSEN1 | p.Ala360Thr | SAL 629 | 487 | 217 | 35 | 1 |
| PSEN1 | p.Gly378Glu | EXT 390 | 515 | 545 | 79 | 3 |
| PSEN1 | p.Gly378Val | EXT 596 ind. 001 | 288 | 522 | 86 | 3 |
| PSEN1 | p.Gly378Val | EXT 596 ind. 002 | 464 | 517 | 79 | 3 |
| PSEN1 | p.Leu383Trp | EXT 1071 | 745 | 1,140 | 130 | 2 |
| PSEN1 | p.Val391Phe | EXT 902 ind. 001 | 279 | 782 | 129 | 3 |
| PSEN1 | p.Val391Phe | EXT 902 ind. 002 | 545 | 495 | 41 | 2 |
| PSEN1 | p.Ser290_Ser319delinsCys (Δ 9) | EXT 235 | 481 | 777 | 56 | 2 |
| PSEN1 | Δ exon 9–10 | EXT 313 | 153 | 414 | 64 | 3 |
| APP | p.Ala713Thr | EXT 1064 | 344 | >1,200 | 191 | 3 |
| APP | p.Ala713Thr | ROU 1580 | 605 | >1,200 | 229 | 3 |
| APP | p.Ala713Thr | EXT 551 | 150 | >1,200 | 150 | 3 |
| APP | p.Ala713Thr | EXT 1059 | 246 | >1,200 | 212 | 3 |
| APP | p.Ala713Thr | ROU 1562 | 287 | 1,198 | 156 | 3 |
| APP | p.Val717Ile | ALZ 568 | 252 | 809 | 118 | 3 |
| APP | p.Val717Ile | EXT 1055 | 545 | 533 | 69 | 3 |
| APP | p.Val717Ile | EXT 1044 | 603 | 841 | 102 | 3 |
| APP | p.Val717Ile | EXT 1017 | 595 | 974 | 101 | 3 |
| APP | p.Val717Ile | EXT 1015 | 663 | >1,200 | 357 | 3 |
| APP | p.Val717Ile | EXT 993 | 255 | 573 | 91 | 3 |
| APP | p.Val717Ile | EXT 519 | 595 | 1,008 | 94 | 3 |
| APP | p.Val717Ile | EXT 397 | 801 | 841 | 112 | 2 |
| APP | p.Val717Ile | SAL 638 | 536 | 732 | 132 | 3 |
| APP | p.Lys724Asn | EXT 624 | 427 | 720 | 74 | 3 |
| APP | p.Asp694Asn | EXT 233 | 316 | >1,200 | 203 | 3 |
| APP | p.Glu693Lys | EXT 414 | 334 | 422 | 77 | 3 |
| APP | p.Ala692Gly | EXT 1025 | 594 | 226 | 45 | 1 |
| APP | Duplication | EXT 857 | 485 | 485 | 67 | 3 |
| APP | Duplication | EXT 814 | 484 | 721 | 70 | 3 |
| APP | Duplication | EXT 1093 | 311 | 808 | 93 | 3 |
| APP | Duplication | EXT 1252 | 519 | 1,215 | 202 | 3 |
ID, family code; ind, individual code. Abnormal values appear in bold.
>1,200: CSF Tau values higher than 1,200 but not diluted for a second dosage by the local center.