DATASET - Heterozygous TREM2 (p.W44X) and PSEN1 (p.A431T) mutations in two Peruvian Families with Familial Alzheimer's Disease: Expanding the Genetic Landscape in Underrepresented Populations

This record contains alignment data and figures related to the manuscript: "Heterozygous TREM2 (p.W44X) and PSEN1 (p.A431T) mutations in two Peruvian Families with Familial Alzheimer’s Disease: Expanding the Genetic Landscape in Underrepresented Populations". Abstract Alzheimer’s disease (AD) accounts for up to 70% of all dementia cases, affecting an estimated 23–35 million people worldwide. According to the World Health Organization (WHO), the number of AD cases in Latin America, including Peru, is expected to quadruple by 2050. However, these populations remain underrepresented in research, diagnostics, and care. Early-onset Alzheimer’s disease (EOAD), characterised by symptom onset before the age of 65, has been shown to have a strong genetic component, making it valuable for genetic studies. Identifying EOAD-associated mutations in underrepresented populations is crucial for uncovering pathogenic variants that may provide new insights into the disease’s mechanisms. In this article, we present two Peruvian families with early and late onset AD in whom Whole-Exome sequencing (WES) revealed heterozygous variants associated with AD.