Unusually young onset of spastic paraparesis in a carrier of both the A431E PSEN1 and A713T APP variants
The A713T variant in APP has been shown to affect APP processing and Abeta nucleation and is considered to be a risk factor for AD. We hypothesize that the presence of this variant led to the early onset of spastic paraparesis in our proband despite Abeta deposition in brain being undetectable on PET. This finding suggests spastic paraplegia may be related to aberrant APP processing in a manner distinct from plaque formation. This study was funded by R01AG062007 and R01AG069013.
Authors
- David Craig (ORCID: https://orcid.org/0000-0002-3374-2217)
- Miguel Ángel Macías-Islas (ORCID: https://orcid.org/0000-0002-5613-6682)
- John M. Ringman (ORCID: https://orcid.org/0000-0001-5429-0777)
- Nasim Sheikh‐Bahaei (ORCID: https://orcid.org/0000-0001-7029-7215)
- Enrique Israel Velazquez Villareal
Institutions
- University of Southern California (US)
- Universidad de Guadalajara (MX)
- Keck Hospital of USC (US)
- City of Hope (US)
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1002/alz.088009
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00