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Table 2 Summary of CSF marker levels for each mutation carrier

From: Amyloid-β1–43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations

  Individual identifier Mutation APOE 1–43 1–42 1–40 sAPPα sAPPβ T-tau P-tau181
P Patient 12 PSEN1 p.A79V 34 10 490 3836 99 90 NA NA
Patient 13 PSEN1 p.A79V 33 18 531 4833 87 101 959 136
Patient 17 PSEN1 p.C263F 33 20 679 8165 252 268 458 73
Patient 21 PSEN1 p.C263F 33 36 1202 9117 130 141 281 55
Patient 24 PSEN1 p.R269H 33 8 393 4063 127 114 640 77
V Patient 10 APP p.P91L 34 11 516 4026 42 44 287 44
Control 3 APP p.S198P 33 29 1190 7838 111 125 248 47
Patient 5 APP p.R328W 33 50 1598 8134 72 86 371 76
Control 4 APP p.R328W 34 13 483 8679 161 184 NA NA
Patient 6 APP p.R499H 34 9 513 4486 74 78 440 51
Patient 7 APP p.E599K 34 14 816 8065 179 200 > 1200 225
Patient 8 APP p.E599K 33 25 630 5184 116 110 633 104
Patient 29 PSEN1 p.D40del 33 14 618 6641 122 103 615 82
Patient 31 PSEN2 p.R62C 34 15 613 6823 57 73 NA NA
Patient 32 PSEN2 p.R62H 33 44 1699 9048 122 127 407 59
Patient 34 PSEN2 p.R62H 34 17 561 4269 110 103 783 82
Patient 36 PSEN2 p.S130L 33 14 578 4631 73 81 340 54
Patient 40 PSEN2 p.T153S 33 7 373 2340 39 34 212 32
  1. List of carriers of APP and PSENs known pathogenic (P) and VUS (V) mutations with CSF available. Notes: all carriers had AD diagnosis except control 3 and control 4, who were controls at the moment of inclusion. Control 4 developed vascular dementia at follow-up (AAO 75 years). Patients in bold are EOAD patients (AAO range 56–65 years). Values for Aβ1–43, T-tau and P-tau181 are in pg/mL. Underlined values and values in bold, for Aβ1–43, Aβ1–42, Aβ1–40, sAPPα and sAPPβ, are respectively higher and lower levels of the markers based on the exploratory cut-offs (Table S2, Additional file). Normal cut-offs: T-tau < 297 pg/mL; P-tau181 < 57 pg/mL