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.
Bibliographical noteFunding Information:
We would like to thank the patients for providing biological material for this study. This study was partially supported by Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq), Instituto Nacional de Genetica Medica Populacional (INaGeMP), Fundacao de Amparo a Pesquisa do Estado do Rio Grande do Sul (FAPERGS) and Fundo de Incentivo a Pesquisa e Eventos do HCPA (FIPE-HCPA). L.B.J. and M.L.S.-P. are supported by CNPq.
© 2017 EAN
- intragenic haplotype
- nucleotide repeats
- progression rate
- spinocerebellar ataxia
- spinocerebellar ataxia type 10