# Phenotype and Genotype of Autosomal Dominant Alzheimer's Disease in Jalisco, Mexico

> **NIH NIH R01** · UNIVERSITY OF SOUTHERN CALIFORNIA · 2020 · $682,193

## Abstract

The study of persons with or at-risk for genetically-determined autosomal dominant Alzheimer’s
disease (ADAD) due to mutations in the PSEN and APP genes has made tremendous contributions to
our understanding of AD in general. As the future development of AD in persons inheriting ADAD
mutations can be reliably predicted, one can define the disease phenotype and changes occurring
during the presymptomatic phase of the disease with great sensitivity, enabling the evaluation of other
factors influencing disease course (e.g. modifying genes, effects of putative disease-modifying
interventions). Such research is facilitated by the identification of large families sharing the same
genetic predisposition, an approach that has been best implemented in an extended family in Colombia
with a common mutation in PSEN1 (E280A). A similar founder effect for a distinct mutation in PSEN1
(A431E) and another large family with a different ADAD-causing mutation in APP (V717I) has been
identified in the State of Jalisco in Mexico but to date these families have been understudied. The goal
of the current application is to facilitate the performance of clinical studies of this population by
investigators in Jalisco. This will be achieved through the following specific aims:
Specific Aim #1) To characterize and follow persons with and at-risk for ADAD in Jalisco by
harmonizing measures between the Centro de Investigación Biomédica de Occidente Genetics clinic in
Guadalajara, the University of Guadalajara Polyclinic in Tepatitlan, and the USC Alzheimer’s Disease
Research Center. By providing gene-sequencing technology and training, we will also enable the
genetic characterization of this population.
Specific Aim #2) To perform studies to identify genes that affect the age of disease onset and the
presence of leg stiffness in ADAD.
Specific Aim #3) To improve the ability of clinicians and researchers in Jalisco to deliver
presymptomatic genetic counseling for persons at-risk for ADAD, thus optimizing autonomy with
regards to research participation.
 This project will improve our understanding of the pathophysiology of ADAD and lay the
groundwork for future studies of this informative population in Mexico.

## Key facts

- **NIH application ID:** 10054049
- **Project number:** 1R01AG069013-01
- **Recipient organization:** UNIVERSITY OF SOUTHERN CALIFORNIA
- **Principal Investigator:** JOHN M RINGMAN
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $682,193
- **Award type:** 1
- **Project period:** 2020-09-15 → 2025-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10054049

## Citation

> US National Institutes of Health, RePORTER application 10054049, Phenotype and Genotype of Autosomal Dominant Alzheimer's Disease in Jalisco, Mexico (1R01AG069013-01). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10054049. Licensed CC0.

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