PSEN2 and neurodegenerative disease: Lastly, PSEN2 Thr421Met may interact with other mutations in neurodegenerative disease related genes, which were found in the proband patient, such as ATP binding cassette subfamily A member 7 (<i>ABCA7</i>), Notch Receptor 3 (<i>NOTCH3</i>), or Leucine-rich repeat kinase 2 (LRRK2).