A comprehensive review of spinocerebellar ataxia type 2 in Cuba - PubMed (original) (raw)

Review

A comprehensive review of spinocerebellar ataxia type 2 in Cuba

Luis Velázquez-Pérez et al. Cerebellum. 2011 Jun.

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.

PubMed Disclaimer

Similar articles

• Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds.
  Tang B, Liu C, Shen L, Dai H, Pan Q, Jing L, Ouyang S, Xia J. Tang B, et al. Arch Neurol. 2000 Apr;57(4):540-4. doi: 10.1001/archneur.57.4.540. Arch Neurol. 2000. PMID: 10768629
• [Advance in research on spinocerebellar ataxia 2].
  Jing F, Yang D, Chen T. Jing F, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Apr 10;35(2):284-287. doi: 10.3760/cma.j.issn.1003-9406.2018.02.032. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 29653012 Review. Chinese.
• Spinocerebellar Ataxia Type 2.
  Scoles DR, Pulst SM. Scoles DR, et al. Adv Exp Med Biol. 2018;1049:175-195. doi: 10.1007/978-3-319-71779-1_8. Adv Exp Med Biol. 2018. PMID: 29427103 Review.
• Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives.
  Magaña JJ, Velázquez-Pérez L, Cisneros B. Magaña JJ, et al. Mol Neurobiol. 2013 Feb;47(1):90-104. doi: 10.1007/s12035-012-8348-8. Epub 2012 Sep 21. Mol Neurobiol. 2013. PMID: 22996397 Review.
• [Hereditary ataxias in Cuba. Historical, epidemiological, clinical, electrophysiological and quantitative neurological features].
  Velázquez-Pérez L, García R, Santos FN, Paneque HM, Medina HE, Hechavarría PR. Velázquez-Pérez L, et al. Rev Neurol. 2001 Jan 1-15;32(1):71-6. Rev Neurol. 2001. PMID: 11293106 Spanish.

Cited by

• Moyamoya associated with Turner syndrome in a patient with type 2 spinocerebellar ataxia-Occam's razor or Hickam's dictum: a case report.
  Nóbrega PR, da Costa FBS, Rodrigues PGB, de Maria Frota Vasconcelos T, Soares DMB, Araújo JS, Dias DA, Sobreira-Neto MA, de Paiva ARB, Braga-Neto P, Kok F, Fontenele EGP. Nóbrega PR, et al. BMC Neurol. 2022 Oct 8;22(1):381. doi: 10.1186/s12883-022-02912-x. BMC Neurol. 2022. PMID: 36209056 Free PMC article.
• Progression of brain atrophy in spinocerebellar ataxia type 2: a longitudinal tensor-based morphometry study.
  Mascalchi M, Diciotti S, Giannelli M, Ginestroni A, Soricelli A, Nicolai E, Aiello M, Tessa C, Galli L, Dotti MT, Piacentini S, Salvatore E, Toschi N. Mascalchi M, et al. PLoS One. 2014 Feb 25;9(2):e89410. doi: 10.1371/journal.pone.0089410. eCollection 2014. PLoS One. 2014. PMID: 24586758 Free PMC article.
• Recessive spinocerebellar ataxia with paroxysmal cough attacks: a report of five cases.
  Velázquez-Pérez L, González-Piña R, Rodríguez-Labrada R, Aguilera-Rodríguez R, Galicia-Polo L, Vázquez-Mojena Y, Cortés-Rubio AM, Trujillo-Bracamontes MR, Cerecedo-Zapata CM, Hernández-Hernández O, Cisneros B, Magaña JJ. Velázquez-Pérez L, et al. Cerebellum. 2014 Apr;13(2):215-21. doi: 10.1007/s12311-013-0526-3. Cerebellum. 2014. PMID: 24097205
• Spinocerebellar ataxia type 2 neurodegeneration differentially affects error-based and strategic-based visuomotor learning.
  Vaca-Palomares I, Díaz R, Rodríguez-Labrada R, Medrano-Montero J, Vázquez-Mojena Y, Velázquez-Pérez L, Fernandez-Ruiz J. Vaca-Palomares I, et al. Cerebellum. 2013 Dec;12(6):848-55. doi: 10.1007/s12311-013-0496-5. Cerebellum. 2013. PMID: 23754233

References

1. 1. Cerebellum. 2012 Sep;11(3):630-9 - PubMed
2. 1. Neurology. 2010 Mar 9;74(10):839-45 - PubMed
3. 1. Ann Neurol. 2004 Sep;56(3):444-7 - PubMed
4. 1. Hum Mol Genet. 2006 Aug 15;15(16):2523-32 - PubMed
5. 1. Arch Neurol. 2007 Jul;64(7):1042-4 - PubMed

Publication types

MeSH terms

LinkOut - more resources

• Full Text Sources

  • Springer

• Other Literature Sources

  • The Lens - Patent Citations Database

• Research Materials

  • NCI CPTC Antibody Characterization Program