The Cerebellum

, Volume 10, Issue 2, pp 184–198

A Comprehensive Review of Spinocerebellar Ataxia Type 2 in Cuba

  • Luis Velázquez-Pérez
  • Roberto Rodríguez-Labrada
  • Julio Cesar García-Rodríguez
  • Luis Enrique Almaguer-Mederos
  • Tania Cruz-Mariño
  • José Miguel Laffita-Mesa
Article

DOI: 10.1007/s12311-011-0265-2

Cite this article as:
Velázquez-Pérez, L., Rodríguez-Labrada, R., García-Rodríguez, J.C. et al. Cerebellum (2011) 10: 184. doi:10.1007/s12311-011-0265-2

Abstract

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar ataxia characterized by a progressive cerebellar syndrome associated to saccadic slowing, peripheral neuropathy, cognitive disorders, and other multisystem features. SCA2 is caused by the abnormal expansion of cytosine–adenine–guanine triplet repeats in the encoding region of the ATXN2 gene and therefore the expression of toxic polyglutamine expansions in the ataxin 2 protein, which cause progressive neuronal death of Purkinje cells in the cerebellum and several pontine, mesencephalic, and thalamic neurons among other cells. Worldwide, SCA2 is the second most frequent type of spinocerebellar ataxia, only surpassed by SCA3. Nevertheless, in Holguin, Cuba, the disease reaches the highest prevalence, resulting from a putative foundational effect. This review discusses the most important advances in the genotypical and phenotypical studies of SCA2, highlighting the comprehensive characterization reached in Cuba through clinical, neuroepidemiological, neurochemical, and neurophysiological evaluation of SCA2 patients and pre-symptomatic subjects, which has allowed the identification of new disease biomarkers and therapeutical opportunities. These findings provide guidelines, from a Cuban viewpoint, for the clinical management of the disease, its diagnosis, genetic counseling, and therapeutical options through rehabilitative therapy and/or pharmacological options.

Keywords

Spinocerebellar ataxia Cerebellar ataxia Cerebellar syndrome 

Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Luis Velázquez-Pérez
    • 1
  • Roberto Rodríguez-Labrada
    • 1
  • Julio Cesar García-Rodríguez
    • 2
  • Luis Enrique Almaguer-Mederos
    • 1
  • Tania Cruz-Mariño
    • 1
  • José Miguel Laffita-Mesa
    • 1
  1. 1.Centro para la Investigación y Rehabilitación de Ataxias HereditariasHolguínCuba
  2. 2.Centro para la Producción de Animales de LaboratorioHavanaCuba

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