Lanoiselée HM, Nicolas G, Wallon D, Rovelet-Lecrux A, Lacour M, Rousseau S, Richard AC, Pasquier F, Rollin-Sillaire A, Martinaud O, Quillard-Muraine M, de la Sayette V, Boutoleau-Bretonniere C, Etcharry-Bouyx F, Chauviré V, Sarazin M, le Ber I, Epelbaum S, Jonveaux T, Rouaud O, Ceccaldi M, Félician O, Godefroy O, Formaglio M, Croisile B, Auriacombe S, Chamard L, Vincent JL, Sauvée M, Marelli-Tosi C, Gabelle A, Ozsancak C, Pariente J, Paquet C, Hannequin D, Campion D, collaborators of the CNR-MAJ project. APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. PLoS Med. 2017 Mar;14(3):e1002270. Epub 2017 Mar 28 PubMed.

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Mutations

  1. PSEN1 S290_R377delinsW (Δ9-10) (Δ9-10)
  2. PSEN1 F237C
  3. PSEN1 M84T
  4. PSEN1 P88H
  5. PSEN1 G111W
  6. PSEN1 P117Q
  7. PSEN1 I180N
  8. PSEN1 F205_G206delinsC
  9. PSEN1 M210R
  10. PSEN1 L241R
  11. PSEN1 A360T
  12. PSEN2 R284G
  13. APP Duplication EXT-1252 [LINC00158-ADAMTS1]
  14. APP Duplication EXT-857 [MRPL39-ADAMTS5]
  15. APP Duplication EXT-1093 [AK124194-CYYR1]
  16. APP Duplication EXT-814 [NCAM2-ADAMTS5]
  17. PSEN1 Y115C
  18. PSEN1 M139K
  19. PSEN1 I143T
  20. PSEN1 H163R
  21. PSEN1 G217D
  22. PSEN1 Q222H
  23. PSEN1 A231T
  24. PSEN1 M233T
  25. PSEN1 F237L
  26. PSEN1 C263F
  27. PSEN1 R269H
  28. PSEN1 G378E
  29. PSEN1 L418F
  30. PSEN2 T122P
  31. PSEN1 E273G
  32. PSEN1 A246P
  33. APP Duplication EXT-773 [LINC00158-CYYR1]

News

  1. The Search for the Missing AD Heritability Turns Up New Rare Variants
  2. Genetics Propels DIAN Toward Therapies