Article
The relationship between amyloid-β peptide spectrum and the spastic paraparesis phenotype in autosomal dominant Alzheimer's disease.
Alzheimer's research & therapy - 26 Nov 2025
Zoltowska Katarzyna Marta, Bandera Julia, Hamed Mohamed Belal, Enzlein Thomas, Hopf Carsten, Ryan Natalie S, Chávez-Gutiérrez Lucía
Abstract excerpt
BACKGROUND: More than 300 mutations in presenilin 1 (PSEN1) lead to autosomal dominant Alzheimer's disease (ADAD). PSEN1, as the catalytic subunit of γ-secretase, generates amyloid-β (Aβ) peptides through a sequential proteolysis of the amyloid precursor protein (APP). While ADAD typically presents with progressive cognitive decline, ~ 25% of PSEN1 mutation carriers develop spastic paraparesis (SP), a...
Topics
- Humans
- Alzheimer Disease
- Presenilin-1
- Paraparesis, Spastic
- Amyloid beta-Peptides
- Phenotype
- Mutation
- Male
- Female
- Peptide Fragments