Liu H, Marsh TW, Shi X, Renton AE, Bowling KM, Ziegemeier E, Wang G, Cao Y, Aristel A, Li J, Dickson A, Perrin RJ, Goate AM, Fernández V, Day GS, Doering M, Daniels A, Gordon BA, Benzinger TL, Hassenstab J, Ibanez L, Supnet-Bell C, Xiong C, Allegri R, Berman SB, Fox NC, Ryan N, Huey ED, Vöglein J, Noble JM, Roh JH, Jucker M, Laske C, Ikeuchi T, Sanchez-Valle R, Schofield PR, Chrem Mendez P, Chhatwal JP, Farlow M, Lee JH, Levey AI, Levin J, Lopera F, Martins R, Niimi Y, Rosa-Neto P, Morris JC, Bateman RJ, Karch CM, Cruchaga C, McDade E, Llibre-Guerra JJ. The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset. Brain. 2025 Feb 4; Epub 2025 Feb 4 PubMed.

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Mutations

  1. APP N660Y
  2. APP L723R
  3. PSEN1 V97M
  4. PSEN1 F105S
  5. PSEN1 F118V
  6. PSEN1 I162S
  7. PSEN1 W165L
  8. PSEN1 Q223K
  9. PSEN1 P242H
  10. PSEN1 V261A
  11. PSEN1 E273K
  12. PSEN1 D385E
  13. PSEN1 F388Y
  14. PSEN1 P436A
  15. PSEN1 S438C
  16. PSEN2 I120S
  17. PSEN1 S170del (delTCT)
  18. APP I716T
  19. APP I716V (Florida)
  20. APP K724N (Belgian)
  21. PSEN1 L113Q
  22. PSEN1 Y115D
  23. PSEN1 I143V
  24. PSEN1 Y154C
  25. PSEN1 W165G
  26. PSEN1 H214D
  27. PSEN1 I229F
  28. PSEN1 A231V
  29. PSEN1 M233L (A>T)
  30. PSEN1 M233I (G>C)
  31. PSEN1 K239N
  32. PSEN1 Y256S
  33. PSEN1 V261L
  34. PSEN1 R278K
  35. PSEN1 S390I
  36. PSEN1 L392P
  37. PSEN2 S175C
  38. PSEN1 I83_M84del
  39. PSEN1 I168del (TATdel)
  40. PSEN1 M146I (G>T)
  41. PSEN1 N135Y
  42. PSEN1 F237C
  43. PSEN1 I249L
  44. PSEN1 V261I
  45. PSEN1 G378R
  46. PSEN1 Y288H
  47. PSEN1 F176V