As a whole neurogenetic diseases are a common group of neurological disorders. However, the recognitionand molecular diagnosis of these disorders is not always straightforward. Besides, there is a paucity of informationregarding the diagnostic yield that specialized neurogenetic clinics could obtain. We performed a prospective,observational, analytical study of the patients seen in a neurogenetic clinic at a tertiary medicalcentre to assess the diagnostic yield of a comprehensive diagnostic evaluation that included a personalizedclinical assessment along with traditional and next-generation sequencing diagnostic tests. We included a cohortof 387 patients from May 2008 to June 2014. For sub-group analysis we selected a sample of patientswhose main complaint was the presence of progressive ataxia, to whom we applied a systematic moleculardiagnostic algorithm. Overall, a diagnostic mutation was identified in 27·4% of our cohort. However, if weonly considered those patients where a molecular test could be performed, the success rate rises to 45%. Weobtained diagnostic yields of 23·5 and 57·5% in the global group of ataxic patients and in the subset of ataxicpatients with a positive family history, respectively. Thus, about a third of patients evaluated in a neurogeneticclinic could be successfully diagnosed.

中文翻译：

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阿根廷的神经遗传学：基于个性化研究的诊所的诊断结果。

总体上，神经遗传性疾病是一组常见的神经系统疾病。然而，对这些疾病的认识和分子诊断并不总是那么简单。此外，有关专门神经遗传学诊所可获得的诊断结果的信息很少。我们对三级医疗中心神经遗传诊所的患者进行了一项前瞻性，观察性，分析性研究，以评估综合诊断评估的诊断率，该评估包括个性化的临床评估以及传统和下一代测序诊断测试。我们纳入了2008年5月至2014年6月的387名患者。为进行亚组分析，我们选择了主要抱怨为进行性共济失调，我们向他们应用了系统的分子诊断算法。总体而言，在我们队列的27·4％中发现了诊断性突变。但是，如果仅考虑可以进行分子检测的患者，则成功率将升至45％。在全球共济失调患者组和家族史阳性的共济失调患者亚组中，诊断率分别为23·5和57·5％。因此，可以成功地诊断出在神经遗传诊所评估的患者中的三分之一。在全球共济失调患者组和家族史阳性的共济失调患者亚组中，诊断率分别为23·5和57·5％。因此，可以成功地诊断出在神经遗传诊所评估的患者中的三分之一。在全球共济失调患者组和家族史阳性的共济失调患者亚组中，诊断率分别为23·5和57·5％。因此，可以成功地诊断出在神经遗传诊所评估的患者中的三分之一。