ArticleJournal of neurology2016
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.
Article in Journal of neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- The Real Life of Ataxia Patients Without a Vertical Family History: a Twenty-year Experience in South Brazil.Cerebellum (London, England) · 2026Article
- Diagnosis of hereditary ataxias: a real-world single center experience.Journal of neurology · 2025Article
- Primary Coenzyme Q10 Deficiency: An Update.Antioxidants (Basel, Switzerland) · 2023Review
- Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.Translational neurodegeneration · 2021Article
- NGS in Hereditary Ataxia: When Rare Becomes Frequent.International journal of molecular sciences · 2021Article
- Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.Journal of neurology · 2021Article
- Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic.Cerebellum (London, England) · 2021Observational
- Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.Annals of neurology · 2020Article
- Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.Neurogenetics · 2020Article
- A Novel Pathogenic Variant inJournal of clinical medicine · 2019Article
- Diagnosis and management of progressive ataxia in adults.Practical neurology · 2019Review
- Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.JAMA neurology · 2018Article
- Review
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25 authors.
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Abstract
Establishing a molecular diagnosis of autosomal recessive cerebellar ataxias (ARCA) is challenging due to phenotype and genotype heterogeneity. We report the validation of a previously published clinical practice-based algorithm to diagnose ARCA. Two assessors performed a blind analysis to determine the most probable mutated gene based on comprehensive clinical and paraclinical data, without knowing the molecular diagnosis of 23 patients diagnosed by targeted capture of 57 ataxia genes and high-throughput sequencing coming from a 145 patients series. The correct gene was predicted in 61 and 78 % of the cases by the two assessors, respectively. There was a high inter-rater agreement [K = 0.85 (0.55-0.98) p < 0.001] confirming the algorithm's reproducibility. Phenotyping patients with proper clinical examination, imaging, biochemical investigations and nerve conduction studies remain crucial for the guidance of molecular analysis and to interpret next generation sequencing results. The proposed algorithm should be helpful for diagnosing ARCA in clinical practice.
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