Ryan NS, Nicholas JM, Weston PS, Liang Y, Lashley T, Guerreiro R, Adamson G, Kenny J, Beck J, Chavez-Gutierrez L, de Strooper B, Revesz T, Holton J, Mead S, Rossor MN, Fox NC. Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series. Lancet Neurol. 2016 Dec;15(13):1326-1335. Epub 2016 Oct 21 PubMed.

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Mutations

  1. PSEN1 F283L
  2. PSEN1 Q222P
  3. PSEN1 S132A
  4. PSEN1 T291A
  5. PSEN1 Y115H
  6. PSEN1 Y115C
  7. PSEN1 M139V
  8. PSEN1 M146I (G>A)
  9. PSEN1 L153V
  10. PSEN1 L166R
  11. PSEN1 L171P
  12. PSEN1 E184D
  13. PSEN1 F237L
  14. PSEN1 A260V
  15. PSEN1 R269H
  16. PSEN1 R278I
  17. PSEN1 L113_I114insT (Intron 4)
  18. PSEN1 I168del (TATdel)
  19. PSEN1 A434T
  20. PSEN1 I168del (TTAdel)