Ikeda M, Sharma V, Sumi SM, Rogaeva EA, Poorkaj P, Sherrington R, Nee L, Tsuda T, Oda N, Watanabe M, Aoki M, Shoji M, Abe K, Itoyama Y, Hirai S, Schellenberg GD, Bird TD, St George-Hyslop PH. The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients. Ann Neurol. 1996 Dec;40(6):912-7. PubMed.

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Mutations

  1. PSEN1 A260V
  2. PSEN1 A285V