Publications by authors named "E Alarcon-Martin"
: Alzheimer's disease (AD) dementia and mild cognitive impairment (MCI) are currently underdiagnosed in the community, and early detection of cognitive deficits is crucial for timely intervention. FACEmemory, the first completely self-administered online memory test with voice recognition, has been launched as an accessible tool to detect such deficits. This study aims to investigate the neuropsychological associations between FACEmemory subscores and cognitive composites derived from traditional paper-and-pencil neuropsychological tests and to develop an optimal algorithm using FACEmemory data and demographics to discriminate cognitively healthy (CH) individuals from those with MCI.
View Article and Find Full Text PDFBackground: Alzheimer's disease (AD) has a high heritable component characteristic of complex diseases, yet many of the genetic risk factors remain unknown. We combined genome-wide association studies (GWAS) on amyloid endophenotypes measured in cerebrospinal fluid (CSF) and positron emission tomography (PET) as surrogates of amyloid pathology, which may be helpful to understand the underlying biology of the disease.
Methods: We performed a meta-analysis of GWAS of CSF Aβ42 and PET measures combining six independent cohorts (n=2,076).
Article Synopsis
- - The study investigates the genetic factors behind neuropsychiatric symptoms common in Alzheimer's disease, specifically psychosis (AD+P) and affective disturbances like depression and anxiety (AD+A).
- - Using a large sample of nearly 10,000 Alzheimer's participants, researchers found genetic correlations between AD+P and AD+A, but these two conditions also showed distinct genetic profiles when compared to psychiatric disorders in non-AD individuals.
- - The findings highlight the need for integrating genetic data to develop better treatments, as both psychosis and affective symptoms in Alzheimer's have shared and differing genetic associations.
Article Synopsis
- - Microglial dysfunction is linked to Alzheimer's disease (AD), with a focus on a variant affecting the SIRPβ1 receptor that regulates the clearance of amyloid-β (Aβ).
- - The study found that a specific insertion in the SIRPβ1 gene alters protein function, increasing the risk of AD and affecting cognitive decline rates in patients with mild cognitive impairment.
- - Results suggest that this SIRPβ1 variant could influence microglial responses to Aβ and may serve as a potential target for treatment strategies that involve the TREM2-TYROBP pathway.