ReviewAnnals of clinical and translational neurology2025
Practice Recommendations for Genetic Testing of Ataxias.
Review in Annals of clinical and translational neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Practice Recommendations for Genetic Testing of Ataxias.Annals of clinical and translational neurology · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
Abstract
objectiveOver the past decade, significant advances in genetic testing for ataxia have improved diagnostic accuracy, informed clinical trial eligibility, guided treatment decisions, and enabled cascade testing of at-risk relatives. While guidance exists for other neurogenetic conditions, there are no standardized guidelines on genetic counseling and testing for individuals with unexplained ataxia.
methodsWe conducted a comprehensive literature review on genetic counseling and testing in ataxia, identifying 7362 articles. After removing 2971 duplicates, 4391 articles were screened by two authors using the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) framework. In areas lacking clear published evidence, we convened a multidisciplinary expert panel with clinical and genetic expertise in ataxia. Following conflict resolution and additional filtering, 68 articles were included in our guidance development.
resultsBased on this evidence and expert consensus, we developed 20 recommendations addressing indications for genetic testing in hereditary ataxia, components of pre- and post-test counseling, testing options, insurance considerations, interpretation of test results, and appropriate referral to genetic counseling services. Major themes include the importance of formal genetic counseling and suggesting whole genome sequencing as first-line testing, with an emphasis on detecting repeat expansions.
conclusionThese evidence-based, consensus-driven recommendations aim to support clinicians in evaluating patients with unexplained ataxia in order to provide timely evaluation and care, both for patients and their at-risk relatives.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.