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dc.contributor.author
Llibre Guerra, Jorge J.
dc.contributor.author
Li, Yan
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Allegri, Ricardo Francisco
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Chrem Mendez, Patricio Alexis
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Surace, Ezequiel Ignacio
dc.contributor.author
Llibre Rodriguez, Juan J.
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Sosa, Ana Luisa
dc.contributor.author
Aláez Verson, Carmen
dc.contributor.author
Longoria, Erika Mariana
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Tellez, Alberto
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Carrillo Sánchez, Karol
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Flores Lagunes, Luis Leonardo
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Sánchez, Victor
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Takada, Leonel Tadao
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Nitrini, Ricardo
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Ferreira Frota, Norberto Anizio
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Benevides Lima, Joyce
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Lopera, Francisco
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Ramírez, Laura
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Jiménez Velázquez, Ivonne
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Schenk, Christian
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Acosta, Daisy
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Behrens, María Isabel
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Doering, Michelle
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Ziegemeier, Ellen
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Morris, John C.
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McDade, Eric
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Bateman, Randall J.
dc.date.available
2022-03-22T02:50:54Z
dc.date.issued
2020-11
dc.identifier.citation
Llibre Guerra, Jorge J.; Li, Yan; Allegri, Ricardo Francisco; Chrem Mendez, Patricio Alexis; Surace, Ezequiel Ignacio; et al.; Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes; Elsevier Science Inc.; Alzheimers & Dementia; 17; 4; 11-2020; 653-664
dc.identifier.issn
1552-5260
dc.identifier.uri
http://hdl.handle.net/11336/153672
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.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Elsevier Science Inc.
dc.rights
info:eu-repo/semantics/restrictedAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
ALZHEIMER
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GENETICS
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LATIN AMERICA
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DIAN
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Genética Humana
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Medicina Básica
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2022-03-14T21:08:28Z
dc.identifier.eissn
1552-5279
dc.journal.volume
17
dc.journal.number
4
dc.journal.pagination
653-664
dc.journal.pais
Estados Unidos
dc.journal.ciudad
Amsterdam
dc.description.fil
Fil: Llibre Guerra, Jorge J.. Washington University in St. Louis; Estados Unidos
dc.description.fil
Fil: Li, Yan. Washington University in St. Louis; Estados Unidos
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Fil: Allegri, Ricardo Francisco. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
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Fil: Chrem Mendez, Patricio Alexis. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
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Fil: Surace, Ezequiel Ignacio. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
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Fil: Llibre Rodriguez, Juan J.. Universidad de La Habana; Cuba
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Fil: Sosa, Ana Luisa. Instituto Nacional de Neurología y Neurocirugía; México
dc.description.fil
Fil: Aláez Verson, Carmen. Instituto Nacional de Medicina Genómica; 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; México
dc.description.fil
Fil: Flores Lagunes, Luis Leonardo. Instituto Nacional de Medicina Genómica; México
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Fil: Sánchez, Victor. Universidade de Sao Paulo; Brasil
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Fil: Takada, Leonel Tadao. General Hospital of Fortaleza; Brasil
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Fil: Nitrini, Ricardo. General Hospital of Fortaleza; Brasil
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Fil: Ferreira Frota, Norberto Anizio. Grupo de Neurociencias de Antioquia; Colombia
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Fil: Benevides Lima, Joyce. Grupo de Neurociencias de Antioquia; Colombia
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Fil: Lopera, Francisco. Universidad de Puerto Rico; Puerto Rico
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Fil: Ramírez, Laura. Universidad de Puerto Rico; Puerto Rico
dc.description.fil
Fil: Jiménez Velázquez, Ivonne. Universidad Nacional Pedro Henríquez Ureña; República Dominicana
dc.description.fil
Fil: Schenk, Christian. Universidad Nacional Pedro Henríquez Ureña; República Dominicana
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Fil: Acosta, Daisy. Universidad de Chile.; Chile. Universidad del Desarrollo. Facultad de Medicina Clínica Alemana; Chile
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Fil: Behrens, María Isabel. Washington University in St. Louis; Estados Unidos
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Fil: Doering, Michelle. Washington University in St. Louis; Estados Unidos
dc.description.fil
Fil: Ziegemeier, Ellen. Washington University in St. Louis; Estados Unidos
dc.description.fil
Fil: Morris, John C.. Washington University in St. Louis; Estados Unidos
dc.description.fil
Fil: McDade, Eric. Washington University in St. Louis; Estados Unidos
dc.description.fil
Fil: Bateman, Randall J.. Washington University in St. Louis; Estados Unidos
dc.journal.title
Alzheimers & Dementia
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/10.1002/alz.12227
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1002/alz.12227
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