Publications by authors named "Amanda Saldarriaga"
Background: The SARS-CoV2 global pandemic impacted participants in the Alzheimer's Prevention Initiative (API) Autosomal Dominant Alzheimer's Disease (ADAD) clinical trial, who faced three stressors: 1) fear of developing dementia; 2) concerns about missing treatment; and 3) risk of SARS-CoV2 infection.
Objective: To describe the frequency of psychological disorders among the participants of the API ADAD Colombia clinical study, treated by a holistic mental health team during the COVID-19 pandemic. The extent of use of mental health team services was explored considering different risk factors, and users and non-users of these services were compared.
Article Synopsis
- The Colombian population shows a unique genetic background due to a mix of Native American, Spanish, and African ancestries, influenced by past population bottlenecks caused by diseases.
- Through genetic analysis of 900 individuals, including those with Alzheimer's and other neurodegenerative disorders, researchers identified how historical admixture has shaped the occurrence of disease-related mutations.
- The study found 21 pathogenic variants related to neurodegenerative diseases, with significant variation in risk based on ancestry, highlighting the importance of demographic history in understanding genetic diseases in the Colombian population.
Introduction: A small percentage of Alzheimer's disease (AD) cases are caused by genetic mutations with autosomal dominant inheritance. We report a family with a novel variant in PSEN1.
Methods: We performed clinical and genetic evaluation of 93 related individuals from a Colombian admixed population.
Background: Mild cognitive impairment (MCI) and pre-MCI have been proposed as stages preceding Alzheimer's disease (AD) dementia. We assessed descendants of individuals with a mutation in presenilin 1 (PSEN1) that causes familial AD, with the aim of identifying distinct stages of clinical progression to AD dementia.
Methods: We retrospectively studied a cohort of descendants of carriers of the PSEN1 E280A mutation.