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<p>Spinocerebellar ataxia type 1 (SCA1) was the first autosomal dominant ataxia to have its genetic basis uncovered in 1993. It belongs to the group of polyglutamine SCAs, which are caused by abnormal (CAG) expansions within the coding regions of different genes. The disease has global, but not even distribution across the world. It seems to be particularly frequent in Northern Italy and Eastern Europe. There are few reports coming from Latin American countries. In the current review, we will cover epidemiological data from SCA1 in Brazilian patients, trying to compare the local genotypic and phenotypic profile with that from other countries. In addition, key contributions (phenotypic characterization and neuroimaging) to our understanding of this condition coming from Brazilian investigators will be addressed.</p>

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SCA1 in Brazil: Local Cohort Profile and Scientific Contributions

  • 期刊论文

  • 发表日期：

    2025年7月24日

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  • Nadson Bruno Serra Santos,
  • Camila Caroso Lobo,
  • Thiago Junqueira R. Rezende,
  • Alberto Rolim Muro Martinez,
  • Marcondes C. Jr França

摘要

Spinocerebellar ataxia type 1 (SCA1) was the first autosomal dominant ataxia to have its genetic basis uncovered in 1993. It belongs to the group of polyglutamine SCAs, which are caused by abnormal (CAG) expansions within the coding regions of different genes. The disease has global, but not even distribution across the world. It seems to be particularly frequent in Northern Italy and Eastern Europe. There are few reports coming from Latin American countries. In the current review, we will cover epidemiological data from SCA1 in Brazilian patients, trying to compare the local genotypic and phenotypic profile with that from other countries. In addition, key contributions (phenotypic characterization and neuroimaging) to our understanding of this condition coming from Brazilian investigators will be addressed.