| Prevalence | ~30-50% of all familial AD cases |
| Inheritance | Autosomal dominant |
| Gene | PSEN1 (Presenilin 1) |
| Chromosome | 14q24.3 |
| Mutations | >200 pathogenic variants identified |
| Proteolytic cleavage | Cuts APP at multiple sites within the transmembrane domain |
| [Aβ](/proteins/amyloid-beta) generation | Produces Aβ40 (∼90%) and Aβ42 (∼10%) |
| Notch signaling | Essential for Notch receptor cleavage |
| Aβ42/Aβ40 ratio | Most PSEN1 mutations **increase the Aβ42/Aβ40 ratio** |
| Total Aβ | Some mutations increase, others decrease production |
| Aβ42 | More aggregation-prone, forms seeds more readily |
| Range | 30-70 years (most commonly 45-55) |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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