Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes.

ABSTRACT:

Introduction

A growing number of dominantly inherited Alzheimer's disease (DIAD) cases have become known in Latin American (LatAm) in recent years. However, questions regarding mutation distribution and frequency by country remain open.

Methods

A literature review was completed aimed to provide estimates for DIAD pathogenic variants in the LatAm population. The search strategies were established using a combination of standardized terms for DIAD and LatAm.

Results

Twenty-four DIAD pathogenic variants have been reported in LatAm countries. Our combined dataset included 3583 individuals at risk; countries with highest DIAD frequencies were Colombia (n = 1905), Puerto Rico (n = 672), and Mexico (n = 463), usually attributable to founder effects. We found relatively few r

SUBMITTER: Llibre-Guerra JJ 

PROVIDER: S-EPMC8140610 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature