TY - JOUR
T1 - Dominantly inherited Alzheimer's disease in Latin America
T2 - Genetic heterogeneity and clinical phenotypes
AU - Llibre-Guerra, Jorge J.
AU - Li, Yan
AU - Allegri, Ricardo F.
AU - Mendez, Patricio Chrem
AU - Surace, Ezequiel I.
AU - Llibre-Rodriguez, Juan J.
AU - Sosa, Ana Luisa
AU - Aláez-Verson, Carmen
AU - Longoria, Erika Mariana
AU - Tellez, Alberto
AU - Carrillo-Sánchez, Karol
AU - Flores-Lagunes, Luis Leonardo
AU - Sánchez, Victor
AU - Takada, Leonel Tadao
AU - Nitrini, Ricardo
AU - Ferreira-Frota, Norberto Anizio
AU - Benevides-Lima, Joyce
AU - Lopera, Francisco
AU - Ramírez, Laura
AU - Jiménez-Velázquez, Ivonne
AU - Schenk, Christian
AU - Acosta, Daisy
AU - Behrens, María Isabel
AU - Doering, Michelle
AU - Ziegemeier, Ellen
AU - Morris, John C.
AU - McDade, Eric
AU - Bateman, Randall J.
N1 - Publisher Copyright:
© 2020 the Alzheimer's Association
PY - 2021/4
Y1 - 2021/4
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/85096717149
U2 - 10.1002/alz.12227
DO - 10.1002/alz.12227
M3 - Article
C2 - 33226734
AN - SCOPUS:85096717149
SN - 1552-5260
VL - 17
SP - 653
EP - 664
JO - Alzheimer's and Dementia
JF - Alzheimer's and Dementia
IS - 4
ER -