. A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nat Med. 1998 Apr;4(4):452-5. PubMed.

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Mutations

  1. PSEN1 S290C;T291_S319del (ΔE9Finn)
  2. PSEN1 I83_M84del (DelIM)