Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil

Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil

Author Gheno, T. C. Google Scholar
Furtado, G. V. Google Scholar
Saute, J. A. M. Google Scholar
Donis, K. C. Google Scholar
Fontanari, A. M. V. Google Scholar
Emmel, V. E. Google Scholar
Pedroso, J. L. Autor UNIFESP Google Scholar
Barsottini, O. Autor UNIFESP Google Scholar
Godeiro-Junior, C. Google Scholar
van der Linden, H. Google Scholar
Pereira, E. Ternes Google Scholar
Cintra, V. P. Google Scholar
Marques, W., Jr. Google Scholar
de Castilhos, R. M. Google Scholar
Alonso, I. Google Scholar
Sequeiros, J. Google Scholar
Cornejo-Olivas, M. Google Scholar
Mazzetti, P. Google Scholar
Leotti, V. B. Google Scholar
Jardim, L. B. Google Scholar
Saraiva-Pereira, M. L. Google Scholar
Abstract Background and purpose: Spinocerebellar ataxia type 10 is a neurodegenerative disorder that is due to an expanded ATTCT repeat tract in the ATXN10 gene. Our aim was to describe clinical characteristics and intragenic haplotypes of patients with spinocerebellar ataxia type 10 from Brazil and Peru. Methods: Expanded alleles were detected by repeat-primed polymerase chain reaction. Disease progression was measured by the Scale for the Assessment and Rating of Ataxia, and the Neurological Examination Score for Spinocerebellar Ataxias when possible. Haplotypes were constructed based on polymorphic markers within and outside the gene. Results: Thirteen new families were diagnosed (three from Peru). Patients from three Brazilian families diagnosed previously were also reassessed. In total, 25 individuals (16 families) were evaluated. Mean (+/-SD) age at onset and disease duration were 34.8 +/- 10.2 and 12 +/- 8 years, respectively. Common findings were ataxia, dysarthria/dysphagia, nystagmus, pyramidal signs, ophthalmoparesis and seizures. No associations were found between clinical findings and geographical origins. Twelve patients living in remote regions were examined only once. In the remaining individuals, the Scale for the Assessment and Rating of Ataxia score, and Neurological Examination Score for Spinocerebellar Ataxias worsened by 0.444 (95% CI, -0.088 to 0.800) and 0.287 (95% CI, -0.061 to 0.635) points/year, respectively. A common haplotype, 19CGGC14, was found in 11/13 of Brazilian and in 1/3 of Peruvian families. Conclusions: The progression rate was slower than in other spinocerebellar ataxias. A consistently recurrent intragenic haplotype was found, suggesting a common ancestry for most, if not all, patients.
Keywords intragenic haplotype
nucleotide repeats
progression rate
spinocerebellar ataxia type 10
spinocerebellar ataxia
xmlui.dri2xhtml.METS-1.0.item-coverage Hoboken
Language English
Sponsor Conselho Nacional de Desenvolvimento Cientifico e Tecnologico
Instituto Nacional de Genetica Medica Populacional
Fundacao de Amparo a Pesquisa do Estado do Rio Grande do Sul
Fundo de Incentivo a Pesquisa e Eventos do HCPA
Grant number CNPq
Date 2017
Published in European Journal Of Neurology. Hoboken, v. 24, n. 7, p. 892-+, 2017.
ISSN 1351-5101 (Sherpa/Romeo, impact factor)
Publisher Wiley
Extent 892-+
Origin http://dx.doi.org/10.1111/ene.13281
Type Article
Web of Science ID WOS:000405550300007
URI https://repositorio.unifesp.br/handle/11600/53573

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