Protocol for a JBI scoping review on genetic variants associated with mild cognitive impairment, Alzheimer’s disease, and frontotemporal dementia in Latin America and the Caribbean

This scoping review aims to systematically map and synthesize the existing evidence on genetic variants associated with neurodegenerative diseases in Latin American and Caribbean populations, focusing on Alzheimer’s disease (AD), frontotemporal dementia (FTD), and mild cognitive impairment (MCI). The review explores which genes, single nucleotide variants (SNVs), copy number variants (CNVs), indels, and haplotypes have been reported in the region and examines their relationship with disease phenotypes, ancestry, and population diversity. The review follows the Joanna Briggs Institute (JBI) methodological framework for scoping reviews and is reported in accordance with the PRISMA-ScR guidelines. The search strategy covers studies published between 2001 and 2025, using PubMed and ScienceDirect as primary databases, complemented by manual reference screening and AI-assisted mapping tools such as Litmaps and Connected Papers. Eligible studies include genetic or genomic analyses performed in Latin American cohorts with participants diagnosed with AD, MCI, or FTD. The main objectives are to: (1) summarize the current knowledge on genetic variants reported in these populations; (2) identify patterns of genetic risk and potential protective variants across different countries and ancestries; and (3) detect knowledge gaps and research needs that limit the representation of Latin American populations in global neurogenetic studies. By integrating scattered genetic findings, this review will offer the first regional overview of the molecular and population-genetic landscape of dementia in Latin America, providing a foundation for future collaborative, genomic, and translational research that advances precision medicine in neurodegenerative diseases.