Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil
| Autor: | Jonas Alex Morales Saute, Laura Bannach Jardim, Vanessa Bielefeldt Leotti, E. Ternes Pereira, Tailise Conte Gheno, Pilar Mazzetti, Orlando Graziani Povoas Barsottini, H. van der Linden, R. M. de Castilhos, V. P. Cintra, Isabel Alonso, Clecio Godeiro-Junior, Anna Martha Vaitses Fontanari, Wilson Marques, Mario Cornejo-Olivas, Jorge Sequeiros, Karina Carvalho Donis, José Luiz Pedroso, Maria Luiza Saraiva-Pereira, Vanessa Erichsen Emmel, Gabriel Vasata Furtado |
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| Rok vydání: | 2017 |
| Předmět: |
Adult
Male 0301 basic medicine congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Ataxia Adolescent Genotype Neurological examination Ataxin-10 Ophthalmoparesis Young Adult 03 medical and health sciences Dysarthria 0302 clinical medicine Seizures Internal medicine Peru medicine Humans Spinocerebellar Ataxias Age of Onset Allele Child Alleles Neurologic Examination Genetics medicine.diagnostic_test business.industry Haplotype DNA Middle Aged medicine.disease Dysphagia 030104 developmental biology Haplotypes Neurology Disease Progression Spinocerebellar ataxia Female Neurology (clinical) medicine.symptom business Brazil 030217 neurology & neurosurgery |
| Zdroj: | European Journal of Neurology. 24:892-e36 |
| ISSN: | 1351-5101 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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