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

LLIBRE-GUERRA, JORGE J.; LI, YAN; ALLEGRI, RICARDO F.; MENDEZ, PATRICIO CHREM; SURACE, EZEQUIEL I.; LLIBRE-RODRIGUEZ, JUAN J.; SOSA, ANA LUISA; ALÁEZ-VERSON, CARMEN; LONGORIA, ERIKA-MARIANA; TELLEZ, ALBERTO; CARRILLO-SÁNCHEZ, KAROL; FLORES-LAGUNES, LUIS LEONARDO; SÁNCHEZ, VICTOR; TAKADA, LEONEL TADAO; NITRINI, RICARDO; FERREIRA-FROTA, NORBERTO ANIZIO; BENEVIDES-LIMA, JOYCE; LOPERA, FRANCISCO; RAMÍREZ, LAURA; JIMÉNEZ-VELÁZQUEZ, IVONNE; SCHENK, CHRISTIAN; ACOSTA, DAISY; BEHRENS, MARÍA ISABEL; DOERING, MICHELLE; ZIEGEMEIER, ELLEN; MORRIS, JOHN C.; MCDADE, ERIC; BATEMAN, RANDALL J.

ALZHEIMERS & DEMENTIA

ELSEVIER SCIENCE INC

Año: 2020

1552-5260

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.