Miki T, Yokota O, Haraguchi T, Ikeuchi T, Zhu B, Takenoshita S, Terada S, Yamada N. Young adult-onset, very slowly progressive cognitive decline with spastic paraparesis in Alzheimer's disease with cotton wool plaques due to a novel presenilin1 G417S mutation. Acta Neuropathol Commun. 2019 Feb 12;7(1):19. PubMed.

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Mutations

  1. PSEN1 G417S