Objective: Individuals carrying the Presenilin-1 (PSEN1) E280A mutation are nearly certain to develop autosomal dominant Alzheimer’s disease (ADAD) by their forties. Although presymptomatic differences have been observed in adults decades before symptom onset, the earliest divergence remains unknown. This ongoing lon...
Meredith C. Rowe, N. Londoño, Sarita Firstman Lamus et al.· Archives of Clinical Neurops...· 0 citations
Two PSEN1 E280A carriers have presented extreme protection against autosomal dominant Alzheimer’s disease (ADAD), with over two decades of delay for dementia onset. One of them, a male heterozygous for the RELN-COLBOS protective variant showed increased neuronal density in the entorhinal cortex 1. We conducted a deep p...
Yassir El-Amri, N. Villalba-Moreno, Julia A. Urban et al.· bioRxiv· 0 citations
By expanding the reported spectrum of disease-associated variants in a Latin American population, this work identified previously unreported or underrepresented variants that would likely be missed by array-based or targeted screening approaches and contribute to the characterization of EOPD and familial PD in Latin Am...
E. Waldo, H. M. Chaparro-Solano, M. Isayan et al.· medRxiv· 0 citations
High‐frequency remote cognitive assessment is feasible, reliable, and valid in a relatively young international ADAD cohort, supporting its integration into early‐intervention studies.
A. Aschenbrenner, Hannah M. Wilks, Matthew S. Welhaf et al.· Alzheimer's & Dementia· 1 citation
It is revealed that mild behavioral impairment symptoms may emerge before cognitive decline in ADAD and supports the MBI‐C as a tool for detecting early behavioral changes linked to AD pathology and identifying at‐risk individuals for clinical trials and early intervention.
Catarina Tristão-Pereira, D. Vásquez, Jorge Alcina et al.· Alzheimer's & Dementia· 1 citation
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