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Genetic aspects of Huntington's disease in Latin America. A systematic review
Author(s) -
Castilhos R.M.,
Augustin M.C.,
Santos J.A.,
Perandones C.,
SaraivaPereira M.L.,
Jardim L.B.
Publication year - 2016
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12641
Subject(s) - haplotype , allele , latin americans , disease , demography , genetics , population , huntington's disease , trinucleotide repeat expansion , medicine , biology , gene , linguistics , philosophy , sociology
We aimed to present a systematic review on Huntington's disease ( HD ) in Latin America ( LA ). PubMed and LILACS were searched up to March 2015, reporting confirmed HD cases in LA . Case series, cross‐sectional, case–control, and prospective studies were included. From 534 communications, 47 were eligible. Population‐based studies were not found; minimal prevalence of 0.5–4/100,000 was estimated for Venezuela and Mexico. Geographical isolates were well characterized in Venezuela and in Peru. CAG repeats at HTT gene varied between 7–33 and 37–112 in normal and expanded alleles, respectively. Intermediate alleles were found in 4–10% of controls. Ages at onset and the expanded CAG repeats correlated with r from – 0.55 to –0.91. While haplotype patterns of Venezuelan and Brazilian chromosomes were similar to those observed in Europeans, haplotypes from Peruvian HD patients did not match the same pattern. The limited number of papers found suggests that HD is poorly diagnosed in LA . Minimal prevalence seemed to be halfway between those of Caucasians and Asians. Range of CAG repeats was similar to those of Europeans. Haplotype studies indicate that majority of HD patients might be of Caucasian descent; an Asian origin for some Peruvian patients was proposed.