biostudies-literatureLlibre-Guerra JJNIA NIH HHS653-664https://www.ebi.ac.uk/biostudies/studies/S-EPMC8140610biostudies-literatureUnknown17(4)<h4>Introduction</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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 rAlzheimer's & dementia : the journal of the Alzheimer's AssociationDominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes.PMC8140610UF1 AG032438U19 AG032438Alaez-Verson CFlores-Lagunes LLTellez ALlibre-Rodriguez JJSchenk CBateman RJSosa ALMendez PCFerreira-Frota NASurace EINitrini RBenevides-Lima JSanchez VCarrillo-Sanchez KAcosta DLongoria EMDoering MJimenez-Velazquez ILlibre-Guerra JJAllegri RFMcDade EMorris JCRamirez LLi YBehrens MITakada LTLopera FZiegemeier EfalseDominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes.<h4>Introduction</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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 r2021-01-01T00:00:00Z2021 Apr2026-06-02T21:51:37.892Z2025-04-06T19:45:46.719ZS-EPMC81406103322673410.1002/alz.12227