Abstract
ABSTRACT.Alzheimer’s disease (AD) and frontotemporal dementia (FTD) are neurodegenerative disorders that result in a significant burden to both patients and caregivers. By 2050, the number of people with dementia in Latin America will increase 4-fold. A deep understanding of the relevant genetic factors of AD and FTD is fundamental to tackle this reality through prevention. A review of different genetic variants that cause AD or FTD in Latin America was conducted. We searched Medline and PubMed databases using the keywords “Alzheimer’s disease,” “frontotemporal dementia,” “mutation,” “America,” and “Latin America,” besides specific Latin American countries. Forty-five items were chosen and analyzed. PSEN1 mutations are the commonest cause of genetic early-onset Alzheimer’s disease (EOAD), followed by PSEN2 and APP mutations. Genetic FTD can be mainly explained by GRN and MAPT mutations, as well as C9orf72 G4C2 repeat expansion. APOE ε4 can modify the prevalence and incidence of late-onset Alzheimer’s disease (LOAD), in addition to the cognitive performance in affected carriers.
Highlights
Dementia is characterized by a decline in memory, language, problem-solving and in other cognitive AdBoSmTaRiAnCsTt.hAalzthaefimfeecrt’sadipseerassoen(A’sDa) abnildityfrotontopteermfopromraledveemryednatiya a(FcTtDiv)itaireesnaenurdodseogceianlerfautnivcetidoinsoinrdge.rIst tihsact orenssuilsttiennatlsyigangifirceaendt burden to both patients and caregivers
The purpose of our work is to describe Alzheimer’s disease (AD) and frontotemporal dementia (FTD) genetics in Latin America
A sample of 120 sporadic AD cases and 149 healthy older adult controls was analyzed, and a risk association for s17125721 or E318G was identified in familial AD cases (Odds Ratio — OR=6.0; 95% confidence interval [95%CI] 1.06–33.79; p=0.042); no statistical association was found between the APOE ε4 allele and rs17125721 or E318G.17
Summary
Disclosure: The authors report no conflicts of interest. In a recent genetic meta-analysis involving 94,437 individuals with LOAD, 20 previous LOAD loci were confirmed.[5] The authors described five new genome-wide loci (IQCK, ACE, ADAM10, ADAMTS1, WWOX), identified when investigating relatives of people diagnosed with AD or dementia. The authors identified a genetic correlation between LOAD, family history of dementia, and education. They found that common genetic LOAD variants were positively correlated to a maternal history of dementia.[5] they detected a significant negative correlation between AD and educational level: more years of schooling and better cognitive scores behaved as protective factors against LOAD.[5]
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