Spinocerebellar Ataxia Type 10: From Amerindians to Latin Americans

  • Hélio A. G. Teive
  • Tetsuo Ashizawa
Invited Commentary


Autosomal dominant cerebellar ataxias, currently denominated spinocerebellar ataxias (SCAs), constitute a large, complex group of heterogeneous autosomal dominant degenerative diseases characterized by progressive degeneration of the cerebellum and its afferent and efferent connections [1, 2]. Other nervous system structures are usually affected, including the basal ganglia, brainstem nuclei, pyramidal tracts, and posterior column and anterior horn of the spinal cord, as well as the peripheral nerves. SCAs are clinically characterized by the presence of cerebellar gait, limb ataxia (with dysmetria,dysdiadochokinesia, intention tremor), scanning dysarthria, dysphagia, nystagmus, and ocular motility abnormalities, which may be accompanied by extracerebellar signs such as ophthalmoplegia, pyramidal signs, movement disorders (including parkinsonism, dystonia, myoclonus, and chorea), dementia, epilepsy, visual disorders (including pigmentary retinopathy), lower motor neuron...


Spinocerebellar ataxia type 10 Epidemiology History Amerindians Latin Americans 



Tetsuo Ashizawa has received grant support through the University of Florida as his salary support (NIH grant NS083564).

Compliance with Ethics Guidelines

Conflict of Interest

Hélio A.G. Teive declares that he has no conflict of interest.

Tetsuo Ashizawa has received support for travel to meetings for the study or otherwise from the University of Rochester (to attend an investigator meeting for a study funded by the Muscular Dystrophy Association) and the Muscular Dystrophy Association (to attend the Medical Advisory Committee). He also receives royalties from Baylor College of Medicine for an invention relating to genetic testing.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.


  1. 1.
    Teive HA, Munhoz RP, Arruda WO, et al. Spinocerebellar ataxia type 10 – a review. Parkinsonism Relat Disord. 2011;17:655–61.PubMedCrossRefGoogle Scholar
  2. 2.
    Ashizawa T. Spinocerebellar ataxia type 10. Handb Clin Neurol. 2012;103:507–19.PubMedCrossRefGoogle Scholar
  3. 3.
    Teive HA, Roa BB, Raskin S, et al. Clinical phenotype of Brazilian families with spinocerebellar ataxia 10. Neurology. 2004;63:1509–12.PubMedCrossRefGoogle Scholar
  4. 4.
    Rasmunssen A, Matsuura T, Ruano L, et al. Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10. Ann Neurol. 2001;50:234–9.CrossRefGoogle Scholar
  5. 5.
    van de Warremburg BP, Sinke RJ, Verschuuren-Bemelmans CC. Spinocerebelllar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology. 2002;58:702–8.CrossRefGoogle Scholar
  6. 6.
    Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen ME. Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. Brain. 2009;132:1577–88.PubMedCrossRefGoogle Scholar
  7. 7.
    Matsuura T, Achari M, Khajavi M, et al. Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy. Ann Neurol. 1999;45:407–11.PubMedCrossRefGoogle Scholar
  8. 8.
    Matsuura T, Yamagata T, Burgess DL, et al. Large expansions of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet. 2000;26:191–4.PubMedCrossRefGoogle Scholar
  9. 9.
    Grewal RP, Achari M, Matsuura T, et al. Clinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10. Arch Neurol. 2002;59:1285–90.PubMedCrossRefGoogle Scholar
  10. 10.
    Teive HAG, Arruda WO, Raskin S, Ashizawa T, Werneck LC. The history of spinocerebellar ataxia type 10 in Brazil. Travels of a gene. Arq Neuropsiquiatr. 2007;65:965–8.PubMedGoogle Scholar
  11. 11.
    Teive HA, Munhoz RP, Raskin S, et al. Spinocerebellar ataxia type 10: frequency of epilepsy in a large sample of Brazilian patients. Mov Disord. 2010;25:2875–8.PubMedCrossRefGoogle Scholar
  12. 12.
    Matsuura T, Fang P, Pearson CE, et al. Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier? Am J Hum Genet. 2006;78:125–9.PubMedCrossRefGoogle Scholar
  13. 13.
    McFarland KN, Liu J, Landrian I, et al. Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures. Neurogenetics. 2013 (Submmited).Google Scholar
  14. 14.
    Gatto EM, Gao R, White MC, et al. Ethnic origin and extrapyramidal signs in an Argentinian spinocerebellar ataxia type 10 family. Neurology. 2007;69:216–8.PubMedCrossRefGoogle Scholar
  15. 15.
    Gallardo M, Soto A. Clinical characterization of a Venezuela family with spinocerebellar ataxia type 10. Mov Disord. 2009;24:S12.Google Scholar
  16. 16.
    Olivas MC, Cornejo-Herrera I, Lindo-Samanamud S, et al. Spinocerebellar ataxia type 10 or SCA10 in Peruvian population. First report of three families (PD2.006). Poster discussion session presented at: 65th AAN Annual Meeting; 2013 Mar 16-23; San Diego.Google Scholar
  17. 17.
    Almeida T, Alonso I, Martins S, et al. Ancestral origin of the ATTCT repeat expansions in spinocerebellar ataxia type 10. PLoS One. 2009;4:e4553.PubMedCrossRefGoogle Scholar
  18. 18.
    Kitchen A, Miyamoto MM, Mulligan CJ. A three-stage colonization model for the peopling of the Americas. PLoS One. 2008;3:e1596.PubMedCrossRefGoogle Scholar
  19. 19.
    Reich D, Patterson N, Campbell D, et al. Reconstructing Native American population history. Nature. 2012;488:370–4.PubMedCrossRefGoogle Scholar
  20. 20.
    Tamm E, Kivisild T, Reidla M, et al. Beringian standstill and spread of Native American founders. PLoS One. 2007;2:e829.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  1. 1.Movement Disorders Unit, Neurology Service, Hospital de ClínicasFederal University of ParanáCuritibaBrazil
  2. 2.Department of NeurologyUniversity of FloridaGainesvilleUSA

Personalised recommendations