title: Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
abstract: 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.
authors.forename: Sergio Alejandro
authors.initials: SA
authors.lastname: Rodríguez-Quiroga
authors.forename: Marta
authors.initials: M
authors.lastname: Cordoba
authors.forename: Dolores
authors.initials: D
authors.lastname: González-Morón
authors.forename: Nancy
authors.initials: N
authors.lastname: Medina
authors.forename: Patricia
authors.initials: P
authors.lastname: Vega
authors.forename: Cecilia Vazquez
authors.initials: CV
authors.lastname: Dusefante
authors.forename: Tomoko
authors.initials: T
authors.lastname: Arakaki
authors.forename: Nélida Susana
authors.initials: NS
authors.lastname: Garretto
authors.forename: Marcelo Andres
authors.initials: MA
authors.lastname: Kauffman
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001118:Argentina; D001259:Ataxia / Q000175:diagnosis / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics*; D057285:Precision Medicine / Q000379:methods*; D011446:Prospective Studies; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D062606:Tertiary Care Centers; D055815:Young Adult