Article
Discovery and validation of dominantly inherited Alzheimer's disease mutations in populations from Latin America.
Alzheimer's research & therapy - 5 Aug 2022
Takada Leonel Tadao, Aláez-Verson Carmen, Burgute Bhagyashri D, Nitrini Ricardo, Sosa Ana Luisa, Castilhos Raphael Machado, Chaves Marcia Fagundes, Longoria Erika-Mariana, Carrillo-Sánchez Karol, Brucki Sonia Maria Dozzi, Flores-Lagunes Luis Leonardo, Molina Carolina, Olivares Marcos Jimenez, Ziegemeier Ellen, Petranek Jennifer, Goate Alison M, Cruchaga Carlos, Renton Alan E, Fernández Maria Victoria, Day Gregory S, McDade Eric, Bateman Randall J, Karch Celeste M, Llibre-Guerra Jorge J
Abstract excerpt
BACKGROUND: In fewer than 1% of patients, AD is caused by autosomal dominant mutations in either the presenilin 1 (PSEN1), presenilin 2 (PSEN2), or amyloid precursor protein (APP) genes. The full extent of familial AD and frequency of these variants remains understudied in Latin American (LatAm) countries. Due to the rare nature of these variants, determining the pathogenicity of a novel variant in these genes...
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