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

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dc.contributor.author Llibre Guerra, Jorge J.
dc.contributor.author Li, Yan
dc.contributor.author Allegri, Ricardo Francisco
dc.contributor.author Chrem Méndez, Patricio Alexis
dc.contributor.author Surace, Ezequiel Ignacio
dc.contributor.author Llibre Rodríguez, Juan J.
dc.contributor.author Sosa, Ana Luisa
dc.contributor.author Aláez-Verson, Carmen
dc.contributor.author Longoria, Erika-Mariana
dc.contributor.author Tellez, Alberto
dc.contributor.author Carrillo Sánchez, Karol
dc.contributor.author Flores Lagunes, Luis Leonardo
dc.contributor.author Sánchez, Victor
dc.contributor.author Tadao Takada, Leonel
dc.contributor.author Nitrini, Ricardo
dc.contributor.author Ferreira Frota, Norberto Anizio
dc.contributor.author Benevides Lima, Joyce
dc.contributor.author Lopera, Francisco
dc.contributor.author Ramírez, Laura
dc.contributor.author Jiménez Velázquez, Ivonne
dc.date.accessioned 2021-04-23T13:25:59Z
dc.date.available 2021-04-23T13:25:59Z
dc.date.issued 2021-04
dc.identifier.citation Llibre Guerra JJ, Li Y, Allegri RF, Mendez PC, Surace EI, Llibre Rodriguez JJ, Sosa AL, Aláez Verson C, Longoria EM, Tellez A, Carrillo Sánchez K, Flores Lagunes LL, Sánchez V, Takada LT, Nitrini R, Ferreira Frota NA, Benevides Lima J, Lopera F, Ramírez L, Jiménez Velázquez I, Schenk C, Acosta D, Behrens MI, Doering M, Ziegemeier E, Morris JC, McDade E, Bateman RJ. Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes. Alzheimers Dement. 2021 Apr;17(4):653-664. doi: 10.1002/alz.12227. Epub 2020 Nov 23. PMID: 33226734. es_ES
dc.identifier.uri https://repositorio.fleni.org.ar/xmlui/handle/123456789/432
dc.identifier.uri https://doi.org/10.1002/alz.12227
dc.description.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. es_ES
dc.language.iso eng es_ES
dc.publisher John Wiley & Sons es_ES
dc.rights info:eu-repo/semantics/openAccess
dc.rights.uri https://creativecommons.org/licenses/by/2.5/ar/
dc.subject América Latina
dc.subject Alzheimer Disease es_ES
dc.subject Enfermedad de Alzheimer es_ES
dc.subject Latin America es_ES
dc.title Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.type info:eu-repo/semantics/publishedVersion
dc.description.fil Fil: Allegri, Ricardo Francisco. Fleni. Departamento de Neurología. Servicio de Neurología Cognitiva, Neuropsicología y Neuropsiquiatría; Argentina.
dc.description.fil Fil: Surace, Ezequiel. Fleni. Departamento de Neuropatología y Biología Molecular; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil Fil: Chrem Méndez, Patricio Alexis. Fleni. Departamento de Neurología. Servicio de Neurología Cognitiva, Neuropsicología y Neuropsiquiatría; Argentina.
dc.description.fil Fil: Llibre Guerra, Jorge J. Washington University in St. Louis. Department of Neurology; Estados Unidos.
dc.description.fil Fil: Li, Yan. Washington University in St. Louis. Department of Neurology; Estados Unidos.
dc.description.fil Fil: Llibre Rodríguez, Juan J. Universidad de Ciencias Medicas de la Habana; Cuba.
dc.description.fil Fil: Sosa, Ana Luisa. Instituto Nacional de Neurología y Neurocirugía; México.
dc.description.fil Fil: Aláez Verson, Carmen. Instituto Nacional de Medicina Genómica. Laboratorio de Diagnóstico Genómico; México.
dc.description.fil Fil: Longoria, Erika Mariana. Instituto Nacional de Neurología y Neurocirugía; México.
dc.description.fil Fil: Tellez, Alberto. Instituto Nacional de Neurología y Neurocirugía; México.
dc.description.fil Fil: Carrillo Sánchez, Karol. Instituto Nacional de Medicina Genómica. Laboratorio de Diagnóstico Genómico; México.
dc.description.fil Fil: Flores Lagunes, Luis Leonardo. Instituto Nacional de Medicina Genómica. Laboratorio de Diagnóstico Genómico; México.
dc.description.fil Fil: Sánchez, Victor. Hospital das Clinicas, University of São Paulo Medical School. Department of Neurology; Brasil.
dc.description.fil Fil: Tadao Takada, Leonel. General Hospital of Fortaleza; Brasil.
dc.description.fil Fil: Nitrini, Ricardo. General Hospital of Fortaleza; Brasil.
dc.description.fil Fil: Ferreira Frota, Norberto Anizio. Grupo de Neurociencias de Antioquia; Colombia.
dc.description.fil Fil: Benevides Lima, Joyce. Grupo de Neurociencias de Antioquia; Colombia.
dc.description.fil Fil: Lopera, Francisco. University of Puerto Rico School of Medicine; Puerto Rico.
dc.description.fil Fil: Ramírez, Laura. University of Puerto Rico School of Medicine; Puerto Rico.
dc.description.fil Fil: Jiménez Velázquez, Ivonne. Universidad Nacional Pedro Henríquez Ureña; República Dominicana.
dc.relation.ispartofVOLUME 17
dc.relation.ispartofNUMBER 4
dc.relation.ispartofPAGINATION 653-664.
dc.relation.ispartofCOUNTRY Estados Unidos
dc.relation.ispartofCITY Nueva York
dc.relation.ispartofTITLE Alzheimer's & dementia : the journal of the Alzheimer's Association
dc.relation.ispartofISSN 1552-5279
dc.type.snrd info:ar-repo/semantics/artículo es_ES


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