| N141I (Asn141Ile) | The most frequently reported mutation, originally identified in Volga-German families |
| M239V (Met239Val) | Associated with a severe phenotype |
| T122P (Thr122Pro) | Found in multiple populations |
| S130L (Ser130Leu) | Common variant with variable penetrance |
| Presenilin 1 or Presenilin 2 | The catalytic subunit |
| Nicastrin | A receptor-like glycoprotein |
| APH-1 | An accessory protein |
| PEN-2 | Required for enzyme activation |
| Calcium dysregulation | Mitochondrial and ER calcium stores are disrupted |
| Oxidative stress | Increased reactive oxygen species production |
| Endoplasmic reticulum stress | Unfolded protein response activation |
| Synaptic dysfunction | Impaired synaptic plasticity and transmission |
| Databases | OMIMOrphanetClinicalTrialsPubMed |