David Aguillon

Genomic Landscape of Early-Onset and Familial Latin American Parkinson's Patients

Emily Waldo, Henry Mauricio Chaparro-Solano, Mariam Isayan, Thiago Peixoto Leal et autres

Background Parkinson's disease (PD), the most common neurodegenerative movement disorder, is commonly thought of as an aging and sporadic disease; however, 5-14% of individuals experience disease onset before the age of 50 years (early-onset PD; EOPD) and about 20% have a positive …

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Parkinson's disease genetics across diverse ancestries: an observational genetic study of causal and risk variants with translational implications

Lara M Lange, Zih‐Hua Fang, Mary B. Makarious, Nicole Kuznetsov et autres

BACKGROUND: The genetic architecture of Parkinson's disease varies considerably across ancestries, yet most previous genetic studies have focused on individuals of European ancestry. We aimed to characterise the distribution of established Parkinson's disease causal variants, as well as risk-associated variants with clinical …

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Environmental determinants of Parkinson’s disease and attributable burden in Latin America

Daniel Teixeira-Dos-Santos, Henry Mauricio Chaparro-Solano, Juan Felipe Duarte-Zambrano, Thiago Leal et autres

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Associations among mild behavioral impairment, cognition, and brain pathology in preclinical autosomal dominant Alzheimer's disease

Catarina Tristão-Pereira, Daniel Vasquez, Jorge Alcina, Ana Baena et autres

Abstract INTRODUCTION The Mild Behavioral Impairment Checklist (MBI‐C) captures neuropsychiatric symptoms in individuals at risk of dementia. In this study, we examined MBI‐C scores in autosomal dominant Alzheimer's disease (ADAD). METHODS We included 83 cognitively unimpaired presenilin‐1 E280A mutation carriers and 114 …

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Remote digital cognitive assessment in a trial‐ready Alzheimer's disease cohort: A scalable approach for early intervention studies

Andrew J. Aschenbrenner, Hannah Wilks, Matthew Welhaf, Samhita Govindan Katteri et autres

INTRODUCTION: Early detection of cognitive decline in Alzheimer's disease (AD), particularly in preclinical stages, is critical for evaluating therapeutic interventions. Traditional cognitive assessments often require lengthy in-person visits, and may therefore limit scalability for younger, trial-ready populations for primary and secondary prevention …

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Time to diagnosis in FTLD‐associated syndromes in Latin America

Nahuel Magrath Guimet, Florentina Morello García, Loana De Los Santos, Carolina Agata Ardohain-Cristalli et autres

INTRODUCTION: Frontotemporal lobar degeneration (FTLD) often affects younger patients, making time to diagnosis especially consequential. Most evidence comes from high-income countries, with limited data from Latin America. METHODS: We studied 415 individuals with FTLD-associated syndromes from 12 sites in six Latin American …

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Longevity and cognitive resilience in a Colombian family carrying the APOE ε2 variant

Alejandro Guerrero, Nelson D. Galvis-Garrido, Yamile Bocanegra, Daniel Vásquez et autres

APOE is the strongest genetic risk factor for late-onset Alzheimer's disease. Despite global efforts to promote resilience, delay cognitive decline, and slow aging, APOE ε2, one of the most robust resilience-associated variants, remains relatively underexplored in translational research. Exceptional longevity offers a …

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Vulnerability of the locus coeruleus–entorhinal cortex white matter tract in autosomal dominant Alzheimer's disease

Elouise A. Koops, Averi Giudicessi, Ana Baena, Lusiana Martinez et autres

INTRODUCTION: Locus coeruleus (LC) structural integrity declines early in sporadic and autosomal dominant Alzheimer's disease (AD). We examined LC-entorhinal cortex (LC-EC) tract integrity and its association with amyloid and tau pathology and memory in autosomal dominant AD (ADAD). METHODS: F-FTP] positron emission …

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Source-space EEG alpha activity reveals brain age gaps due to neurodegeneration and disparity

Mónica Otero, Felipe Carriel-Rubilar, Hernan Hernandez, Jhosmary Cuadros et autres

Brain clocks are promising tools for evaluating brain health. However, most current methods rely on structural neuroimaging. Functionally based approaches remain scarce, especially for assessing age-related neurodegenerative diseases. This study examines whether the brain age gap (BAG), the difference between chronological and …

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Identification of genetic modifiers of autosomal dominant Alzheimer's disease: a genome-wide association study

Maulikkumar Patel, Wei Feng, Nicole Sarah McKay, Nicole S Mckay et autres

BACKGROUND: Individuals with autosomal dominant Alzheimer's disease (ADAD) arising from mutations in PSEN1, PSEN2, or APP exhibit variability in clinical presentation. Genetic studies of ADAD have shaped our understanding of the disease, and the discovery of genetic modifiers can inform therapeutic interventions …

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Recommendations for genetic counseling for individuals at risk of autosomal dominant Alzheimer's disease in Latin America

Daniel A. Jiménez, Pablo Bagnati, Rosa Elena Flores‐Montes, María Laura Fernández et autres

Autosomal dominant Alzheimer's disease (ADAD) represents a small but impactful subset of Alzheimer's cases. Asymptomatic individuals at genetic risk face substantial personal and family implications when considering predictive testing for known familial variants. Genetic counseling and testing (GCT) frameworks remain limited in …

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Levodopa-Induced dyskinesia in Latin America: Prevalence and associated clinical factors in the LARGE-PD cohort

Henry Mauricio Chaparro-Solano, Daniel Teixeira-Dos-Santos, Emily Waldo, Thiago Peixoto Leal et autres

BackgroundAlthough levodopa is the gold standard treatment for Parkinson's disease (PD), its chronic use is associated with levodopa-induced dyskinesia (LID), a motor complication that impacts prognosis, quality of life, and treatment costs. Most known LID-associated factors have been identified in European-descendant populations.ObjectivesTo …

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