Carecchio M, Picillo M, Valletta L, Elia AE, Haack TB, Cozzolino A, Vitale A, Garavaglia B, Iuso A, Bagella CF, Pappatà S, Barone P, Prokisch H, Romito L, Tiranti V. Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation. Neurogenetics. 2017 Jul;18(3):175-178. Epub 2017 Jun 29 PubMed.

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Mutations

  1. PSEN1 S170P