- Dementia and Cognitive Impairment Research
- Alzheimer's disease research and treatments
- Neurobiology of Language and Bilingualism
- Parkinson's Disease Mechanisms and Treatments
- Cholinesterase and Neurodegenerative Diseases
- Action Observation and Synchronization
- Functional Brain Connectivity Studies
- Neurological disorders and treatments
- EEG and Brain-Computer Interfaces
- Autism Spectrum Disorder Research
- Linguistics and Discourse Analysis
- Health, Environment, Cognitive Aging
- Moyamoya disease diagnosis and treatment
- Health disparities and outcomes
- Genetic Neurodegenerative Diseases
- Voice and Speech Disorders
- Cerebrovascular and genetic disorders
- Nuclear Receptors and Signaling
- Restless Legs Syndrome Research
- Bioinformatics and Genomic Networks
- Memory and Neural Mechanisms
- Advanced Neuroimaging Techniques and Applications
- COVID-19 and Mental Health
- Psychological Well-being and Life Satisfaction
- Neurological Disease Mechanisms and Treatments
Universidad de Antioquia
2013-2025
Colciencias
2024
Hospital Pablo Tobon Uribe
2023
Harvard University
2020
Massachusetts General Hospital
2020
Banner Alzheimer’s Institute
2020
Brigham and Women's Hospital
2020
Alzheimer's Association
2020
Universidad de San Buenaventura, Bogota
2013-2017
Universidad Nacional de Cuyo
2016
Abstract We characterized the world’s second case with ascertained extreme resilience to autosomal dominant Alzheimer’s disease (ADAD). Side-by-side comparisons of this male and previously reported female ADAD homozygote for APOE3 Christchurch ( APOECh ) variant allowed us discern common features. The remained cognitively intact until 67 years age despite carrying a PSEN1 -E280A mutation. Like carrier, he had extremely elevated amyloid plaque burden limited entorhinal Tau tangle burden. He...
Abstract Objectives: The worldwide spread of Parkinson’s disease (PD) calls for sensitive and specific measures enabling its early (or, ideally, preclinical) detection. Here, we use language revealing deficits in PD to explore whether similar disturbances are present asymptomatic individuals at risk the disease. Methods: We administered executive, semantic, verb-production, syntactic tasks sporadic patients, genetic patients with PARK2 (parkin) or LRRK2 (dardarin) mutation, first-degree...
ABSTRACT Background Dysarthric symptoms in Parkinson's disease (PD) vary greatly across cohorts. Abundant research suggests that such heterogeneity could reflect subject‐level and task‐related cognitive factors. However, the interplay of these variables during motor speech remains underexplored, let alone by administering validated materials to carefully matched samples with varying profiles combining automated tools machine learning methods. Objective We aimed identify which dimensions best...
Frontostriatal networks play critical roles in grounding action semantics and syntactic skills. Indeed, their atrophy distinctively disrupts both domains, as observed patients with Huntington's disease (HD) Parkinson's disease, even during early stages. However, frontostriatal degeneration these conditions may begin up to 15 years before the onset of clinical symptoms, opening avenues for pre-clinical detection via sensitive tasks. Such a mission is particularly HD, given that patients'...
Neuroimaging studies of autosomal dominant Alzheimer's disease (ADAD) enable characterization the trajectories cerebral amyloid-β (Aβ) and tau accumulation in decades prior to clinical symptom onset. Longitudinal rates regional measured with positron emission tomography (PET) their relationship other biomarker cognitive changes remain be fully characterized ADAD.Fourteen ADAD mutation carriers (Presenilin-1 E280A) 15 age-matched non-carriers from Colombian kindred underwent 2-3 sessions Aβ...
In the COVID-19 pandemic, older adults from vulnerable ethnoracial groups are at high risk of infection, hospitalization, and death. We aimed to explore pandemic's impact on well-being cognition living in United States (US), Argentina, Chile, Mexico, Peru.
Stress is a known risk factor for Alzheimer's disease (AD), but religious stress coping practices, (e.g., prayer and attending services) may reduce this risk. We investigated the relation between memory in cognitively-unimpaired individuals from Colombian kindred with autosomal dominant AD. Additionally, we examined link brain pathology. Religious was associated lower entorhinal tau ( p = 0.02) better performance 0.04) Presenilin-1 E280A mutation carriers, not non-carriers. These findings...
Action-concept outcomes are useful targets to identify Parkinson's disease (PD) patients and differentiate between those with without mild cognitive impairment (PD-MCI, PD-nMCI). Yet, most approaches employ burdensome examiner-dependent tasks, limiting their utility. We introduce a framework capturing action-concept markers automatically in natural speech. Patients from both subgroups controls retold an action-laden non-action-laden text (AT, nAT). In each retelling, we weighed action...
Abstract Introduction Females may have greater susceptibility to Alzheimer's disease (AD)‐pathology. We examined the effect of sex on pathology, neurodegeneration, and memory in cognitively‐unimpaired Presenilin‐1 ( PSEN1 ) E280A mutation carriers non‐carriers. Methods analyzed baseline data from 167 75 non‐carriers (ages 30 53) Prevention Initiative Autosomal Dominant AD Trial, including florbetapir‐ fludeoxyglucose‐PET, MRI based hippocampal volume cognitive testing. Results exhibited...
This study aims 1) To analyse differences in resting-state electroencephalogram (rs-EEG) spectral features of Parkinson's Disease (PD) and healthy subjects (non-PD) using Functional Data Analysis (FDA) 2) explore, four independent cohorts, the external validity reproducibility findings both epoch-to-epoch FDA averaged-epochs approach. We included 169 (85 non-PD; 84 PD) from centres. Rs-EEG signals were preprocessed with a combination automated pipelines. Sensor-level relative power density...
Abstract Introduction The API AutosomalDominant AD (ADAD) Colombia Trial is a placebo‐controlled clinical trial of crenezumab in 252 cognitively unimpaired 30 to 60‐year‐old Presenilin 1 (PSEN1) E280A kindred members, including mutation carriers randomized active treatment or placebo and non‐carriers who receive placebo. Methods Of the enrolled, we present data on total 242 matched by age range, excluding 10 participants protect participant confidentiality, genetic status, integrity. Results...
Abstract Histopathological reports suggest that subregions of the thalamus, which regulates multiple physiological and cognitive processes, are not uniformly affected by Alzheimer’s disease. Despite this, structural neuroimaging studies often consider thalamus as a single region. Identification in vivo Alzheimer’s-dependent volumetric changes thalamic may aid characterization early nuclei-specific neurodegeneration Here, we leveraged access to largest single-mutation cohort...
Cockayne syndrome (CS) is an autosomal recessive disease associated with premature aging, progressive multiorgan degeneration, and nervous system abnormalities including cerebral cerebellar atrophy, brain calcifications, white matter abnormalities. Although several clinical descriptions of CS patients have reported developmental delay cognitive impairment relative preservation social skills, no previous studies carried out a comprehensive neuropsychological cognition assessment. Furthermore,...
In contrast to sporadic Alzheimer's disease, autosomal dominant disease (ADAD) is associated with greater neuropathological evidence of cerebellar amyloid plaque (Aβ) deposition. this study, we used positron emission tomography (PET) measurements fibrillar Aβ burden characterize the presence and age at onset deposition in cognitively unimpaired (CU) Presenilin-1 (PSEN1) E280A mutation carriers from world's largest extended family ADAD. 18F florbetapir 11C Pittsburgh compound B (PiB) PET data...
Neuropsychologists continue to face challenges when assessing Spanish-speaking individuals due limited availability of normative data. We developed comprehensive data stratified by age and education for a Spanish neuropsychological test battery used the Grupo de Neurociencias Antioquia (Colombia) Colombian Alzheimer's Prevention Initiative Registry, which have followed large families at risk autosomal-dominant disease (ADAD) since 1990s. Approximately 75% these are cognitively-unimpaired not...
Growing evidence suggests that there may be a sex-specific biological risk for Alzheimer's disease (AD). Individuals with autosomal dominant AD due to mutation (E280A) in Presenilin-1 (PSEN1) are genetically determined develop early-onset dementia and thus, have few age-related factors known vary by sex (i.e., cardiovascular disease, menopause, life expectancy).
Abstract Background To determine whether performance on the Latin American Spanish version of Face-Name Associative Memory Exam (LAS-FNAME) can differentiate between cognitively intact carriers an autosomal dominant Alzheimer’s disease mutation (E280A) in Presenilin-1, who are genetically determined to develop early-onset dementia, from matched non-carriers. We also sought examine LAS-FNAME is associated with amyloid-β and regional tau burden carriers. Methods A total 35 (age range 26–41),...