Assini A, Terreni L, Borghi R, Giliberto L, Piccini A, Loqui D, Fogliarino S, Forloni G, Tabaton M. Pure spastic paraparesis associated with a novel presenilin 1 R278K mutation. Neurology. 2003 Jan 14;60(1):150. PubMed.

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Mutations

  1. PSEN1 R278K
  2. PSEN1 C92S