Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes
Jorge J. Llibre‐Guerra, Yan Li, Ricardo Allegri, Patricio Chrem Méndez, Ezequiel Surace, Juan J. Llibre Rodríguez, Ana Luisa Sosa, Carmen Aláez‐Verson, Erika‐Mariana Longoria, Alberto Téllez, Karol Carrillo‐Sánchez, Luis Leonardo Flores‐Lagunes, Víctor Sánchez, Leonel Tadao Takada, Ricardo Nitríni, Norberto Anizio Ferreira‐Frota, Joyce Benevides‐Lima, Francisco Lopera, Laura Ramírez, Ivonne Z. Jiménez‐Velázquez, Christian Schenk, Daisy Acosta, María Isabel Behrens, Michelle Doering, Ellen Ziegemeier, John C. Morris, Eric McDade, Randall J. Bateman
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 reports with extensive documentation on biomarker profiles and disease progression. DISCUSSION: Future DIAD studies will be required in LatAm, albeit with a more systematic approach to include fluid biomarker and imaging studies. Regional efforts are under way to extend the DIAD observational studies and clinical trials to Latin America.