Discovery and validation of dominantly inherited Alzheimer's disease mutations in populations from Latin America.

ABSTRACT:

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 can be challenging. Here, we use a systematic approach to assign the likelihood of pathogenicity in variants from densely affected families in Latin American populations.

Methods

Clinical data was collected from LatAm families at risk for DIAD. Symptomatic family members were identified and assessed by local clinicians and referred for genetic counseling and testing. To

SUBMITTER: Takada LT 

PROVIDER: S-EPMC9354296 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature