Laboratório de Identificação Genética, Centro de Pesquisa Experimental - HCPA, Porto Alegre, Brazil.
Programa de Pós-Graduação em Genética e Biologia Molecular, UFRGS, Porto Alegre, Brazil.
Eur J Neurol. 2017 Jul;24(7):892-e36. doi: 10.1111/ene.13281. Epub 2017 May 31.
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.
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.
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.
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.
脊髓小脑共济失调 10 型是一种神经退行性疾病，由 ATXN10 基因中的 ATTCT 重复序列扩展引起。我们的目的是描述来自巴西和秘鲁的脊髓小脑共济失调 10 型患者的临床特征和基因内单体型。
通过重复引物聚合酶链反应检测扩展等位基因。尽可能使用共济失调评估和评分量表以及脊髓小脑共济失调神经检查评分来测量疾病进展。根据基因内和基因外的多态性标记构建单体型。
诊断了 13 个新的家族（3 个来自秘鲁）。之前诊断的 3 个巴西家族的患者也进行了重新评估。总共评估了 25 个人（16 个家族）。发病年龄和病程的平均值（±SD）分别为 34.8±10.2 岁和 12±8 年。常见表现为共济失调、构音障碍/吞咽困难、眼球震颤、锥体束征、眼肌瘫痪和癫痫发作。未发现临床发现与地理起源之间存在关联。居住在偏远地区的 12 名患者仅接受了一次检查。在其余患者中，共济失调评估和评分量表以及脊髓小脑共济失调神经检查评分的评分分别恶化了 0.444（95%CI，-0.088 至 0.800）和 0.287（95%CI，-0.061 至 0.635）分/年。在 13 个巴西家族中的 11 个和 3 个秘鲁家族中的 1 个中发现了常见的单体型 19CGGC14。
进展速度比其他脊髓小脑共济失调慢。发现了一致复发的基因内单体型，表明大多数（如果不是全部）患者具有共同的祖先。
