Skip to main content
Log in

ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America

  • Letter to the Editor
  • Published:
The Cerebellum Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Auburger GW. Spinocerebellar ataxia type 2. Handb Clin Neurol. 2012;103:423–36.

    Article  PubMed  Google Scholar 

  2. Hayes S, Turecki G, Brisebois K, Lopes-Cendes I, Gaspar C, Riess O, et al. CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2). Hum Mol Genet. 2000;12:1753–8.

    Article  Google Scholar 

  3. Pulst SM, Santos N, Wang D, Yang H, Huynh D, Velazquez L, et al. Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset. Brain. 2005;128(Pt 10):2297–303.

    Article  PubMed  Google Scholar 

  4. Simon DK, Zheng K, Velazquez L, Figueroa KP, Falcon N. Almaguer, et al. Mithochondrial complex I gene variant associated with early age of onset in SCA2. Arch Neurol. 2007;64:1042–4.

    Article  PubMed  Google Scholar 

  5. de Castilhos RM, Furtado GV, Gheno TC, Schaeffer P, Russo A, Barsottini O, et al. Spinocerebellar ataxias in Brazil—frequencies and modulating effects of related genes. Cerebellum. 2014;13(1):17–28.

    Article  CAS  PubMed  Google Scholar 

  6. Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, et al. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain. 2014;137(9):2444–55.

    Article  PubMed Central  PubMed  Google Scholar 

  7. Jardim L, Silveira I, Pereira ML, do Céu Moreira M, Mendonça P, Sequeiros J, et al. Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype. Acta Neurol Scand. 2003;107(3):211–4.

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgments

We thank the patients who participated in the study. This study was supported by CNPq (478057/2012-1) and FIPE-HCPA (GPPG 12-0357). FSP, ASPS, MLSP, and LBJ were supported by CNPq.

Conflicts of Interest

The authors have no conflicts of interest.

Author information

Authors and Affiliations

Authors

Consortia

Corresponding author

Correspondence to Laura Bannach Jardim.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Pereira, F.S., Monte, T.L., Locks-Coelho, L.D. et al. ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America. Cerebellum 14, 728–730 (2015). https://doi.org/10.1007/s12311-015-0666-8

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12311-015-0666-8

Keywords

Navigation