Intermediate-length CAG repeat in ATXN2 is associated with increased risk for amyotrophic lateral sclerosis in Brazilian patients

Helen Maia Tavares de Andrade, Vívian Pedigone Cintra, Milena de Albuquerque, Camila Callegari Piccinin, Luciana Cardoso Bonadia, Rafael Esteves Duarte Couteiro, Daniel Sabino de Oliveira, Rinaldo Claudino, Marcos Vinicius Magno Gonçalves, Mario Emilio Teixeira Dourado, Leonardo Cruz de Souza, Antônio Lúcio Teixeira, Laura de Godoy Rousseff Prado, Vitor Tumas, Acary Souza Bulle Oliveira, Anamarli Nucci, Iscia Lopes-Cendes, Wilson Marques, Marcondes C. França

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


Intermediate-length cytosine-adenine-guanine nucleotide repeat expansions in the ATXN2 gene (which encodes for the protein Ataxin-2) have been linked to increased risk for amyotrophic lateral sclerosis (ALS) in different populations. There is no such study in the Brazilian population, which has a mixed ethnic background. We have thus selected 459 patients with ALS (372 Sporadic ALS and 87 Familial ALS) and 468 control subjects from 6 Brazilian centers to investigate this point. We performed polymerase chain reaction to determine the length of the ATXN2 alleles. Polymerase chain reaction products were resolved using capillary electrophoresis on ABI 3500 × l capillary sequencer. We found that ATXN2 intermediate-length expansions (larger than 26 repeats) were associated with an increased risk for ALS (odds ratio = 2.56, 95% confidence interval: 1.29–5.08, p = 0.005). Phenotype in patients with and without ATXN2 expansions was similar. Our findings support the hypothesis that ATXN2 plays an important role in the pathogenesis of ALS also in the Brazilian population.

Original languageEnglish (US)
Pages (from-to)292.e15-292.e18
JournalNeurobiology of Aging
StatePublished - Sep 2018
Externally publishedYes


  • ALS
  • ATXN2 gene
  • Brazilian patients
  • Risk factor

ASJC Scopus subject areas

  • General Neuroscience
  • Aging
  • Developmental Biology
  • Clinical Neurology
  • Geriatrics and Gerontology


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