Koriath C, Kenny J, Adamson G, Druyeh R, Taylor W, Beck J, Quinn L, Mok TH, Dimitriadis A, Norsworthy P, Bass N, Carter J, Walker Z, Kipps C, Coulthard E, Polke JM, Bernal-Quiros M, Denning N, Thomas R, Raybould R, Williams J, Mummery CJ, Wild EJ, Houlden H, Tabrizi SJ, Rossor MN, Hummerich H, Warren JD, Rowe JB, Rohrer JD, Schott JM, Fox NC, Collinge J, Mead S. Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. Mol Psychiatry. 2018 Oct 2; PubMed.

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Mutations

  1. PSEN1 V142I
  2. PSEN1 P433S
  3. PSEN1 S170_ L171insY
  4. PSEN1 T122A
  5. PSEN1 V393F
  6. PSEN1 A137T
  7. PSEN1 I227V
  8. PSEN1 R42L
  9. PSEN1 P303L
  10. PSEN1 Q15H
  11. PSEN1 N39Y
  12. PSEN2 Y195C
  13. PSEN2 L135R
  14. PSEN2 L225P
  15. APP A713T
  16. PSEN2 R62C
  17. PSEN1 N32N
  18. PSEN1 A79V
  19. PSEN1 V94M
  20. PSEN1 E123K
  21. PSEN1 S170F
  22. PSEN1 G206A
  23. PSEN1 P264L
  24. PSEN1 R269H
  25. PSEN1 R352dup
  26. PSEN1 R358Q
  27. PSEN1 S365A
  28. PSEN1 V412I
  29. PSEN2 V148I
  30. PSEN2 Q228L
  31. PSEN2 T430M
  32. PSEN1 S290_S319delinsC G>A (ΔE9)
  33. PSEN1 T354I
  34. PSEN2 V214L
  35. PSEN2 A237V
  36. PSEN2 K161R
  37. PSEN1 R108Q
  38. PSEN1 R352C
  39. PSEN1 D40del (delACG)
  40. PSEN2 L238P
  41. PSEN1 Q222P
  42. PSEN1 S132A