Observational studyGenetics research2015
Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
Observational study in Genetics research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed.
- Clinical Characteristics of Spinocerebellar Ataxia Type 3 in Uruguay.Cerebellum (London, England) · 2025Article
- Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective.Cerebellum (London, England) · 2022Article
- Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?Journal of assisted reproduction and genetics · 2022Observational
- Diagnostic yield and recognized barriers of an adult neurogenetics clinic.Journal of community genetics · 2021Article
- Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time.Journal of human genetics · 2020Observational
- Reply to Comment on: The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas.Movement disorders clinical practice · 2020Article
- Comment on: The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas.Movement disorders clinical practice · 2020Article
- The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review.Movement disorders clinical practice · 2019Review
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.