Publications by authors named "Stefanie D Pina-Escudero"

Article Synopsis
  • Latin America's genetic diversity offers a unique opportunity to study Alzheimer's disease (AD) and frontotemporal dementia (FTD), with a focus on identifying related genetic variations.
  • The study involved 2,162 participants from six countries who underwent extensive genomic sequencing and analysis to detect genetic factors linked to these dementias.
  • Results highlighted a mix of American, African, and European ancestries, discovered 17 pathogenic variants, and revealed specific genetic variations tied to AD and FTD inheritance patterns in affected families.
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Brain clocks, which quantify discrepancies between brain age and chronological age, hold promise for understanding brain health and disease. However, the impact of diversity (including geographical, socioeconomic, sociodemographic, sex and neurodegeneration) on the brain-age gap is unknown. We analyzed datasets from 5,306 participants across 15 countries (7 Latin American and Caribbean countries (LAC) and 8 non-LAC countries).

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Background: Education influences brain health and dementia. However, its impact across regions, specifically Latin America (LA) and the United States (US), is unknown.

Methods: A total of 1412 participants comprising controls, patients with Alzheimer's disease (AD), and frontotemporal lobar degeneration (FTLD) from LA and the US were included.

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Introduction: Alzheimer's disease (AD) neuropathological changes present with amnestic and nonamnestic (atypical) syndromes. The contribution of comorbid neuropathology as a substratum of atypical expression of AD remains under investigated.

Methods: We examined whether atypical AD exhibited increased comorbid neuropathology compared to typical AD and if such neuropathologies contributed to the accelerated clinical decline in atypical AD.

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Brain clocks, which quantify discrepancies between brain age and chronological age, hold promise for understanding brain health and disease. However, the impact of multimodal diversity (geographical, socioeconomic, sociodemographic, sex, neurodegeneration) on the brain age gap (BAG) is unknown. Here, we analyzed datasets from 5,306 participants across 15 countries (7 Latin American countries -LAC, 8 non-LAC).

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Introduction: While Latin America (LatAm) is facing an increasing burden of dementia due to the rapid aging of the population, it remains underrepresented in dementia research, diagnostics, and care.

Methods: In 2023, the Alzheimer's Association hosted its eighth satellite symposium in Mexico, highlighting emerging dementia research, priorities, and challenges within LatAm.

Results: Significant initiatives in the region, including intracountry support, showcased their efforts in fostering national and international collaborations; genetic studies unveiled the unique genetic admixture in LatAm; researchers conducting emerging clinical trials discussed ongoing culturally specific interventions; and the urgent need to harmonize practices and studies, improve diagnosis and care, and use affordable biomarkers in the region was highlighted.

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Article Synopsis
  • Frontotemporal dementia (FTD) is a major cause of dementia in people under 65, showing symptoms like unusual behavior or language difficulties depending on the variant.
  • The symptoms and presentation of FTD can differ significantly across cultures and socioeconomic backgrounds, but most current research is based on Western populations.
  • The paper discusses how global diversity influences FTD's diagnosis and treatment, and suggests changes to improve the understanding and management of FTD worldwide.
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Article Synopsis
  • GWAS of Alzheimer's disease have mostly focused on individuals of European descent, overlooking genetic differences in other global populations.
  • This research conducted a large multi-ancestry GWAS meta-analysis, identifying two new disease-related genetic loci on chromosome 3 and refining nine loci linked to Alzheimer’s risk.
  • The study underscores the significance of including diverse ancestries in genetic research to better understand risk factors for Alzheimer's disease and related dementias.
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Introduction: At the Alzheimer's Association's APOE and Immunity virtual conference, held in October 2021, leading neuroscience experts shared recent research advances on and inspiring insights into the various roles that both the apolipoprotein E gene (APOE) and facets of immunity play in neurodegenerative diseases, including Alzheimer's disease and other dementias.

Methods: The meeting brought together more than 1200 registered attendees from 62 different countries, representing the realms of academia and industry.

Results: During the 4-day meeting, presenters illuminated aspects of the cross-talk between APOE and immunity, with a focus on the roles of microglia, triggering receptor expressed on myeloid cells 2 (TREM2), and components of inflammation (e.

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Global initiatives call for further understanding of the impact of inequity on aging across underserved populations. Previous research in low- and middle-income countries (LMICs) presents limitations in assessing combined sources of inequity and outcomes (i.e.

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Background: Global brain health initiatives call for improving methods for the diagnosis of Alzheimer's disease (AD) and frontotemporal dementia (FTD) in underrepresented populations. However, diagnostic procedures in upper-middle-income countries (UMICs) and lower-middle income countries (LMICs), such as Latin American countries (LAC), face multiple challenges. These include the heterogeneity in diagnostic methods, lack of clinical harmonisation, and limited access to biomarkers.

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Limited knowledge on dementia biomarkers in Latin American and Caribbean (LAC) countries remains a serious barrier. Here, we reported a survey to explore the ongoing work, needs, interests, potential barriers, and opportunities for future studies related to biomarkers. The results show that neuroimaging is the most used biomarker (73%), followed by genetic studies (40%), peripheral fluids biomarkers (31%), and cerebrospinal fluid biomarkers (29%).

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Purpose Of Review: "Healthy aging" is the state of the aging process in which a person can maintain physical, social, mental, and spiritual wellness. This literature review presents an overview of recent studies that explore how biological, social, and environmental factors contribute to healthy aging.

Recent Findings: A number of genome-wide association studies have been conducted recently for traits related to healthy aging, such as frailty index, healthspan, muscle strength, and parental longevity, leading to the discovery of dozens of genetic variants associated with these traits.

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Objectives: Dementia poses one of the greatest global health challenges, affecting 50 million people worldwide. With 10 million new cases each year, dementia is a growing burden, particularly in low- and middle-income countries (LMIC). This study aimed to identify the facilitators and barriers to providing quality dementia assessment and care in LMICs from a global health perspective.

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Neurodegeneration has multiscalar impacts, including behavioral, neuroanatomical, and neurofunctional disruptions. Can disease-differential alterations be captured across such dimensions using naturalistic stimuli? To address this question, we assessed comprehension of four naturalistic stories, highlighting action, nonaction, social, and nonsocial events, in Parkinson's disease (PD) and behavioral variant frontotemporal dementia (bvFTD) relative to Alzheimer's disease patients and healthy controls. Text-specific correlates were evaluated via voxel-based morphometry, spatial (fMRI), and temporal (hd-EEG) functional connectivity.

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Background And Purpose: The faster rates of cognitive decline and predominance of atypical forms in early-onset Alzheimer's disease (EOAD) suggest that neuropsychiatric symptoms could be different in EOAD compared to late-onset AD (LOAD); however, prior studies based on non-biomarker-diagnosed cohorts show discordant results. Our goal was to determine the profile of neuropsychiatric symptoms in EOAD and LOAD, in a cohort with biomarker/postmortem-confirmed diagnoses. Additionally, the contribution of co-pathologies was explored.

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The prevalence of dementia in Latin America and the Caribbean is growing rapidly, increasing the burden placed on caregivers. Exacerbated by fragile health-care systems, unstable economies, and extensive inequalities, caregiver burden in this region is among the highest in the world. We reviewed the major challenges to caregiving in Latin America and the Caribbean, and we propose regional and coordinated actions to drive future change.

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Latin America is a vast heterogeneous territory where chronic diseases such as mild cognitive impairment or dementia are becoming higher. Frontotemporal dementia (FTD) prevalence in this region is estimated to be around 12-18 cases per thousand persons. However, this prevalence is underestimated given the lack of awareness of FTD even among healthcare professionals.

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Frontotemporal dementia (FTD) includes a group of clinically, genetically, and pathologically heterogeneous neurodegenerative disorders, affecting the fronto-insular-temporal regions of the brain. Clinically, FTD is characterized by progressive deficits in behavior, executive function, and language and its diagnosis relies mainly on the clinical expertise of the physician/consensus group and the use of neuropsychological tests and/or structural/functional neuroimaging, depending on local availability. The modest correlation between clinical findings and FTD neuropathology makes the diagnosis difficult using clinical criteria and often leads to underdiagnosis or misdiagnosis, primarily due to lack of recognition or awareness of FTD as a disease and symptom overlap with psychiatric disorders.

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Background: Timely diagnosis of dementia is a global healthcare priority, particularly in low to middle income countries where rapid increases in older adult populations are expected.

Objective: To investigate global perspectives on the role of brief cognitive assessments (BCAs) in dementia diagnosis, strengths and limitations of existing measures, and future directions and needs.

Methods: This is a qualitative study of 18 dementia experts from different areas of the world.

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Awake bruxism is an understudied feature of behavioral variant of frontotemporal dementia (bvFTD). We present the case of aman who presented with psychiatric, behavioral, cognitive changes, and teeth clenching that resulted in significant changes in his teeth alignment including an underbite. He received multiple treatments with partial response.

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Dementia is becoming increasingly prevalent in Latin America, contrasting with stable or declining rates in North America and Europe. This scenario places unprecedented clinical, social, and economic burden upon patients, families, and health systems. The challenges prove particularly pressing for conditions with highly specific diagnostic and management demands, such as frontotemporal dementia.

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Article Synopsis
  • Many countries in Latin America and the Caribbean are struggling to fight dementia due to differences in culture, politics, and wealth.
  • A group called the Latin American and Caribbean Consortium on Dementia (LAC-CD) wants to bring people together to share ideas and create a plan called Knowledge to Action Framework (KtAF) to help solve these issues.
  • They discuss strategies like research and teamwork that can turn local knowledge into real actions to better support people with dementia in these regions.
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Today, half of the American homeless population is older than 50 years of age. This shift in age distribution among people experiencing homelessness has challenged our long-held views of the causes of homelessness. Age-related neurological diseases, especially neurodegenerative diseases of the brain (NDDB), may play a role eliciting homelessness in a significant proportion of vulnerable older adults.

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