CAG repeats ≥ 34 in Ataxin-1 gene are associated with amyotrophic lateral sclerosis in a Brazilian cohort

João Pedro Nunes Gonçalves, Helen Maia Tavares de Andrade, Vívian Pedigone Cintra, Luciana Cardoso Bonadia, Tauana Bernardes Leoni, Milena de Albuquerque, Melina Pazian Martins, Fabrício Castro de Borba, Rafael Esteves Duarte Couteiro, Daniel Sabino de Oliveira, Rinaldo Claudino, Marcos Vinicius Magno Gonçalves, Mario Emilio Dourado, Leonardo Cruz de Souza, Antônio Lúcio Teixeira, Laura de Godoy Rousseff Prado, Vitor Tumas, Acary Souza Bulle Oliveira, Anamarli Nucci, Iscia Lopes-CendesWilson Marques, Marcondes C. França

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

Little is known about the genetic basis of amyotrophic lateral sclerosis (ALS) outside Europe and US. In this study, we investigated whether intermediate CAG expansions at ATXN1 were associated to ALS in the Brazilian population. To accomplish that, representative samples from 411 unrelated patients and 436 neurologically normal controls from 6 centers spread over the territory were genotyped to quantify ATXN1 expansions. We found that ATXN1 intermediate-length expansion (≥34 CAG repeats) are associated with the disease (odds ratio = 2.19, 95% CI = 1.081–4.441, p = .026). Most ATXN1-positive patients had classical phenotype, but some of them presented predominant lower motor neuron involvement. None of them had associated ataxia. Frontotemporal dementia was concomitantly found in 12.5% of patients carrying the intermediate ATXN1 expansion. Further studies are needed to validate these findings and to understand the pathophysiological mechanisms that connect ataxin-1 and ALS.

Original languageEnglish (US)
Article number116842
JournalJournal of the Neurological Sciences
Volume414
DOIs
StatePublished - Jul 15 2020
Externally publishedYes

Keywords

  • Amyotrophic lateral sclerosis
  • association study
  • ataxin-1
  • populational genetics

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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