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Journal of Neurology

, Volume 261, Issue 9, pp 1691–1694 | Cite as

Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease

  • Luca Leonardi
  • Christian Marcotulli
  • Karen N. McFarland
  • Alessandra Tessa
  • Roberto DiFabio
  • Filippo M. Santorelli
  • Francesco Pierelli
  • Tetsuo Ashizawa
  • Carlo CasaliEmail author
Original Communication

Abstract

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disorder manifested by ataxia with a variable presentation of epileptic seizures, which is caused by a large expansion of an intronic ATTCT pentanucleotide repeat in ATXN10 on 22q13.3. Herein, we report the first description of SCA10 in a Peruvian family, supporting the Amerindian origin of SCA10 and the Panamerican geographical distribution of the disease in North, Central and South America. Moreover, the presence of an interruption motif in the SCA10 expansion along with epileptic seizures in this family supports the correlation between the two, as seen in other families. Finally, this is the first SCA10 patient ever observed outside of America, specifically in Italy. Since this patient is a Peruvian immigrant of Amerindian ancestry, our case report highlights the growing need for awareness amongst clinicians of seemingly geographically restricted rare diseases.

Keywords

Spinocerebellar ataxia SCA10 Epilepsy 

Notes

Acknowledgments

We would like to acknowledge Massimiliano DiMicco, MD, for his brilliant clinical insight.

Conflicts of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.

Ethical standard

This study has been approved by the appropriate ethics committee and has therefore been performed in the accordance with the ethical standards laid down in the 1964 Declaration of Helsinki.

References

  1. 1.
    Wang JL, Wu YQ, Lei LF, Shen L, Jiang H, Zhou YF, Yi JP, Zhou J, Yan XX, Pan Q, Xia K, Tang BS (2010) Polynucleotide repeat expansion of nine spinocerebellar ataxia subtypes and dentatorubral-pallidoluysian atrophy in healthy Chinese Han population. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 27(5):501–505 (Article in Chinese)PubMedGoogle Scholar
  2. 2.
    Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, Zoghbi HY, Ashizawa T (2000) Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 26(2):191–194Google Scholar
  3. 3.
    Teive HA, Munhoz RP, Arruda WO, Raskin S, Werneck LC, Ashizawa T (2011) Spinocerebellar ataxia type 10: a review. Parkinsonism Relat Disord 17:655–661CrossRefPubMedGoogle Scholar
  4. 4.
    Teive HA, Roa BB, Raskin S, Fang P, Arruda WO, Neto YC, Gao R, Werneck LC, Ashizawa T (2004) Clinical phenotype of Brazilian families with spinocerebellar ataxia 10. Neurology 63(8):1509–1512CrossRefPubMedGoogle Scholar
  5. 5.
    Bushara K, Bower M, Liu J, McFarland KN, Landrian I, Hutter D, Teive HA, Rasmussen A, Mulligan CJ, Ashizawa T (2013) Expansion of the spinocerebellar ataxia type 10 (SCA10) repeat in a patient with Sioux Native American Ancestry. PLoS One 8(11):e81342PubMedCentralCrossRefPubMedGoogle Scholar
  6. 6.
    Schmitz-Hubsch T, du Montcel ST, Baliko L et al (2006) Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 66:1717–1720CrossRefPubMedGoogle Scholar
  7. 7.
    Almeida T, Alonso I, Martins S, Ramos EM, Azevedo L, Ohno K et al (2009) Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10). PLoS One 4:e4553PubMedCentralCrossRefPubMedGoogle Scholar
  8. 8.
    McFarland KN, Liu J, Landrian I, Zeng D, Raskin S, Moscovich M, Gatto EM, Ochoa A, Teive HA, Rasmussen A, Ashizawa T (2014) Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures. Neurogenetics 15(1):59–64Google Scholar
  9. 9.
    Teive HA, Munhoz RP, Raskin S, Arruda WO, de Paola L, Werneck LC, Ashizawa T (2010) Spinocerebellar ataxia type 10: frequency of epilepsy in a large sample of Brazilian patients. Mov Disord 25(16):2875–2878PubMedCentralCrossRefPubMedGoogle Scholar
  10. 10.
    Rasmussen A, Matsuura T, Ruano L, Yescas P, Ochoa A, Ashizawa T, Alonso E (2001) Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10. Ann Neurol 50(2):234–239CrossRefPubMedGoogle Scholar
  11. 11.
    McFarland KN, Liu J, Landrian I, Gao R, Sarkar PS, Raskin S, Moscovich M, Gatto EM, Teive HA, Ochoa A, Rasmussen A, Ashizawa T (2013) Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability. Eur J Hum Genet 21(11):1272–1276PubMedCentralCrossRefPubMedGoogle Scholar
  12. 12.
    Warner JP, Barron LH, Goudie D, Kelly K, Dow D, Fitzpatrick DR, Brock DJ (1996) A general method for the detection of large CAG repeat expansions by fluorescent PCR. J Med Genet 33(12):1022–1026PubMedCentralCrossRefPubMedGoogle Scholar
  13. 13.
    Cagnoli C, Michielotto C, Matsuura T, Ashizawa T, Margolis RL, Holmes SE, Gellera C, Migone N, Brusco A (2004) Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay. J Mol Diagn 6(2):96–100PubMedCentralCrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Luca Leonardi
    • 1
  • Christian Marcotulli
    • 1
  • Karen N. McFarland
    • 4
  • Alessandra Tessa
    • 3
  • Roberto DiFabio
    • 1
  • Filippo M. Santorelli
    • 3
  • Francesco Pierelli
    • 2
  • Tetsuo Ashizawa
    • 4
  • Carlo Casali
    • 1
    Email author
  1. 1.Department of Medico-Surgical Sciences and BiotechnologiesSapienza University of RomeLatinaItaly
  2. 2.IRCCS NeuromedPozzilliItaly
  3. 3.Neuromuscular and Molecular Medicine Unit, Department of Developmental NeuroscienceIRCCS Stella MarisPisaItaly
  4. 4.Department of Neurology and The McKnight Brain InstituteUniversity of FloridaGainesvilleUSA

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