Genetics of dementia: insights from Latin America

Ramos, Cláudia; Aguillón, David; Cordano, Christian; Lopera, Francisco

doi:10.1590/1980-57642020dn14-030004

Cited by 16 publications

(11 citation statements)

References 55 publications

(123 reference statements)

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“…The LAC-CD, together with investigators from the USA and Europe, developed a research agenda to tackle the unique combination of genetic and socioeconomic status and social determinants of health (SES/SDH) risks for dementia in LACs [ 1 ]. The current active research agenda in LAC includes basic animal studies [ 18 ], as well as genetic (see a review: [ 19 ]), clinical (see a review: [ 1 ]), neurocognitive (e.g., [ 20–38 ]), biomarker (see a review: [ 1 ]), and caregiver-center research (e.g., [ 39–46 ]) across neurodegenerative conditions. These examples illustrate the enormous research potential of LAC which, despite funding and infrastructure constraints, is contributing valuable knowledge particularly by advancing and integrating regional and global initiatives.…”

Section: Multicenter and Multimodal Research: Redlatmentioning

confidence: 99%

The Latin America and the Caribbean Consortium on Dementia (LAC-CD): From Networking to Research to Implementation Science

Ibáñez

Parra

Butler

2021

JAD

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In comparison with other regions, dementia prevalence in Latin America is growing rapidly, along with the consequent clinical, social, and economic burden upon patients and their families. The combination of fragile health care systems, large social inequalities, and isolated clinical and research initiatives makes the coordination of efforts imperative. The Latin America and the Caribbean Consortium on Dementia (LAC-CD) is a regional organization overseeing and promoting clinical and research activities on dementia. Here, we first provide an overview of the consortium, highlighting the antecedents and current mission. Then, we present the consortium’s regional research, including the multi-partner consortium to expand dementia research in Latin America (ReDLat), which aims to identify the unique genetic, social, and economic factors that drive Alzheimer’s and frontotemporal dementia presentation in LAC relative to the US. We describe an extension of ReDLat which aims to develop affordable markers of disease subtype and severity using high density EEG. We introduce current initiatives promoting regional diagnosis, visibility, and capacity, including the forthcoming launch of the Latin American Brain Health Institute (BrainLat). We discuss LAC-CD-led advances in brain health diplomacy, including an assessment of responses to the impact of COVID-19 on people with dementia and examining the knowledge of public policies among experts in the region. Finally, we present the current knowledge-to-action framework, which paves the way for a future regional action plan. Coordinated actions are crucial to forging strong regional bonds, supporting the implementation of regional dementia plans, improving health systems, and expanding research collaborations across Latin America.

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Section: Multicenter and Multimodal Research: Redlatmentioning

confidence: 99%

The Latin America and the Caribbean Consortium on Dementia (LAC-CD): From Networking to Research to Implementation Science

Ibáñez

Parra

Butler

2021

JAD

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“…The most common cause of hereditary EOAD is PSEN1 mutations followed by PSEN2 and APP mutations ( Ramos et al, 2020 ). While the pathophysiology is similar, there are differences in the AD phenotype ( Ringman et al, 2014 ).…”

Section: Discussionmentioning

confidence: 99%

PSEN1 c.1292C<A Variant and Early-Onset Alzheimer’s Disease: A Scoping Review

Orozco-Barajas

Oropeza-Ruvalcaba²,

Canales-Aguirre

et al. 2022

Front. Aging Neurosci.

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Alzheimer’s disease (AD) is the most common cause of dementia, characterized by progressive loss of cognitive function, with β-amyloid plaques and neurofibrillary tangles being its major pathological findings. Although the disease mainly affects the elderly, c. 5–10% of the cases are due to PSEN1, PSEN2, and APP mutations, principally associated with an early onset of the disease. The A413E (rs63750083) PSEN1 variant, identified in 2001, is associated with early-onset Alzheimer’s disease (EOAD). Although there is scant knowledge about the disease’s clinical manifestations and particular features, significant clinical heterogeneity was reported, with a high incidence of spastic paraparesis (SP), language impairments, and psychiatric and motor manifestations. This scoping review aims to synthesize findings related to the A431E variant of PSEN1. In the search, we followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement and the guidelines proposed by Arksey and O’Malley. We searched and identified 247 studies including the A431E variant of PSEN1 from 2001 to 2021 in five databases and one search engine. After the removal of duplicates, and apply inclusion criteria, 42 studies were finally included. We considered a narrative synthesis with a qualitative approach for the analysis of the data. Given the study sample conformation, we divided the results into those carried out only with participants carrying A431E (seven studies), subjects with PSEN variants (11 studies), and variants associated with EOAD in PSEN1, PSEN2, and APP (24 studies). The resulting synthesis indicates most studies involve Mexican and Mexican-American participants in preclinical stages. The articles analyzed included carrier characteristics in categories such as genetics, clinical, imaging techniques, neuropsychology, neuropathology, and biomarkers. Some studies also considered family members’ beliefs and caregivers’ experiences. Heterogeneity in both the studies found and carrier samples of EOAD-related gene variants does not allow for the generalization of the findings. Future research should focus on reporting data on the progression of carrier characteristics through time and reporting results independently or comparing them across variants.

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“…In the context of FTD, it is important to account that genetic variants of the disease such as mutations in C9ORF72, MAPT, GRN, TARDBP, etc. have been described to affect large families in Latin America and a caregiver may be in charge of the care of multiple sick members of a family ( 26 ).…”

Section: Introductionmentioning

confidence: 99%

Caregiving for Patients With Frontotemporal Dementia in Latin America

et al. 2021

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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. Family members are responsible for the care of patients with FTD at home. These caregivers deliver care despite being ill-equipped and living in the context of austerity policies and social inequities. They often face unsurmountable financial and social burdens that are specific to the region. The most important step to support caregivers in Latin America is to increase awareness of the disease at all levels. Healthcare diplomacy is fundamental to create joint efforts that push policies forward to protect caregivers of FTD patients.

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Genetics of dementia: insights from Latin America

Cited by 16 publications

References 55 publications

The Latin America and the Caribbean Consortium on Dementia (LAC-CD): From Networking to Research to Implementation Science

The Latin America and the Caribbean Consortium on Dementia (LAC-CD): From Networking to Research to Implementation Science

PSEN1 c.1292C<A Variant and Early-Onset Alzheimer’s Disease: A Scoping Review

Caregiving for Patients With Frontotemporal Dementia in Latin America

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