Kasuga K, Ohno T, Ishihara T, Miyashita A, Kuwano R, Onodera O, Nishizawa M, Ikeuchi T. Depression and psychiatric symptoms preceding onset of dementia in a family with early-onset Alzheimer disease with a novel PSEN1 mutation. J Neurol. 2009 Aug;256(8):1351-3. PubMed.

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Mutations

  1. PSEN1 L173F (G>C)
  2. PSEN1 L173F (G>T)