Vázquez-Costa JF, Payá-Montes M, Martínez-Molina M, Jaijo T, Szymanski J, Mazón M, Sopena-Novales P, ENoD Consortium, Pérez-Tur J, Sevilla T. Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome. Front Mol Neurosci. 2021;14:721047. Epub 2021 Aug 30 PubMed.

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Mutations

  1. PSEN1 L166P
  2. PSEN1 P88L