Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.

RODRIGUEZ QUIROGA S; CORDOBA M; GONZALEZ MORON D; MEDINA N; VEGA P; VASQUEZ DUSEFANTE C ; ARAKAKI T; GARRETO N; 5.KAUFFMAN M, CONSALVO D, GONZALEZ MORÓN D, KOCHEN S

GENETICAL RESEARCH

CAMBRIDGE UNIV PRESS

Lugar: Cambridge; Año: 2015 vol. 97

0016-6723

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.