{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Llibre-Guerra JJ"],"funding":["NIA NIH HHS"],"pagination":["653-664"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8140610"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["17(4)"],"pubmed_abstract":["<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 r"],"journal":["Alzheimer's & dementia : the journal of the Alzheimer's Association"],"pubmed_title":["Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes."],"pmcid":["PMC8140610"],"funding_grant_id":["UF1 AG032438","U19 AG032438"],"pubmed_authors":["Alaez-Verson C","Flores-Lagunes LL","Tellez A","Llibre-Rodriguez JJ","Schenk C","Bateman RJ","Sosa AL","Mendez PC","Ferreira-Frota NA","Surace EI","Nitrini R","Benevides-Lima J","Sanchez V","Carrillo-Sanchez K","Acosta D","Longoria EM","Doering M","Jimenez-Velazquez I","Llibre-Guerra JJ","Allegri RF","McDade E","Morris JC","Ramirez L","Li Y","Behrens MI","Takada LT","Lopera F","Ziegemeier E"],"additional_accession":[]},"is_claimable":false,"name":"Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes.","description":"<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 r","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Apr","modification":"2026-06-02T21:51:37.892Z","creation":"2025-04-06T19:45:46.719Z"},"accession":"S-EPMC8140610","cross_references":{"pubmed":["33226734"],"doi":["10.1002/alz.12227"]}}