Despite the progress in the knowledge of Huntington disease (HD) in recent years, the epidemiology continues uncertain, so the study of incidence becomes relevant. This is important since various factors (type of population, diagnostic criteria, disease-modifying factors, etc.) make these data highly variable. Therefore, the genetic diagnosis of these patients is important, since it unequivocally allows the detection of new cases. Descriptive retrospective study with 179 individuals. Incidence of HD was calculated from the ratio of number of symptomatic cases newly diagnosed per 100,000 inhabitants per year during the period 2007–2019 in Aragon (Spain). 50 (27.9%) incident cases of HD (CAG repeat length ≥ 36) were identified from a total of 179 persons studied. The remaining 129/179 (72.1%) were HD negative (CAG repeat length < 36). 29 (58.0%) females and 21 (42.0%) males were confirmed as HD cases. The overall incidence was 0.648 per 100,000 patient-years. 11/50 positive HD cases (22.0%) were identified by performing a predictive test, without clinical symptoms. The minimum number of CAG repeats found was 9 and the most common CAG length among HD negative individuals was 16. Our incidence lied within the range reported for other Caucasian populations. Implementation of new techniques has allowed to determine the exact number of CAG repeats, which is especially important in patients with triplet expansions in an HD intermediate and/or incomplete penetrance allele, both in diagnostic, predictive and prenatal tests.

中文翻译：

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西班牙东北部地区亨廷顿病的发病率：三级护理中心为期13年的回顾性研究

尽管近年来在亨廷顿舞蹈病（HD）方面的知识有所进步，但流行病学仍然不确定，因此对发病率的研究变得有意义。这很重要，因为各种因素（人口类型，诊断标准，疾病改变因素等）使这些数据高度可变。因此，这些患者的基因诊断很重要，因为它明确地允许检测新病例。描述性回顾性研究共179人。HD的发病率是根据2007-2019年间阿拉贡（西班牙）每年每100,000居民新诊断出的症状病例数的比率计算的。从总共179名研究对象中鉴定出50例（27.9％）HD突发事件（CAG重复长度≥36）。其余129/179（72.1％）为HD阴性（CAG重复长度<36）。29（58。确诊为HD病例的女性为0％，男性为2​​1（42.0％）。总发病率为每100,000病人年0.648。通过进行预测性测试，鉴定出11/50阳性HD病例（22.0％），无临床症状。发现的CAG重复的最小数量为9，HD阴性个体中最常见的CAG长度为16。我们的发病率处于其他白种人人群报告的范围内。新技术的实施已经可以确定CAG重复的确切数目，这对于在诊断，预测和产前检查中HD中位和/或外显率等位基因不完整的三联体扩张患者尤其重要。0％）是通过进行预测性测试而确定的，没有临床症状。发现的CAG重复的最小数量为9，HD阴性个体中最常见的CAG长度为16。我们的发病率处于其他白种人人群报告的范围内。新技术的实施已经可以确定CAG重复的确切数目，这对于在诊断，预测和产前检查中HD中位和/或外显率等位基因不完整的三联体扩张患者尤其重要。0％）是通过进行预测性测试而确定的，没有临床症状。发现的CAG重复的最小数量为9，HD阴性个体中最常见的CAG长度为16。我们的发病率处于其他白种人人群报告的范围内。新技术的实施已经可以确定CAG重复的确切数目，这对于在诊断，预测和产前检查中HD中位和/或外显率等位基因不完整的三联体扩张患者尤其重要。