ReviewMovement disorders : official journal of the Movement Disorder Society2025
Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches.
Review in Movement disorders : official journal of the Movement Disorder Society, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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
9 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Impulsivity, Compulsivity, Social Inappropriateness, and Other Neuropsychiatric Features in Cerebellar Histiocytosis.Cerebellum (London, England) · 2026Pooled it
- Article
- Deconstructing Ataxia with Oculomotor Apraxia: Toward a Gene-Based Classification and a Reappraisal of the Oculomotor Phenotype.Movement disorders clinical practice · 2026Article
- Large-scale genetic profiling of hereditary ataxias in China: implications for a stepwise molecular diagnostic strategy.Translational neurodegeneration · 2026Article
- Spectrum of Hereditary Ataxia in Omani Children.Journal of clinical medicine · 2026Article
- CGG Repeat Expansion in GIPC1 is Associated with Childhood-Onset Hereditary Ataxia.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Validation of circulating miR-323a-3p and miR-625-3p to classify hypertrophic cardiomyopathy in Friedreich's ataxia.Scientific reports · 2026Article
- Phenotypic spectrum of FGF14-related late-onset ataxia: predominant tremor and cognitive decline as key features of SCA27A.Journal of neurology · 2026Article
- Hereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review.International journal of molecular sciences · 2026Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors.
Funding
Abstract
The landscape of genetic ataxias is influenced by migration, population genetics, consanguinity, and founder effects, resulting in significant regional variation. Within the expanding domain of genetic ataxias, knowledge of regional epidemiology is scarce, particularly outside of North America and Europe. Understanding the epidemiology of genetic ataxias, together with deep phenotyping and knowledge of the appropriate ancillary studies, is crucial for the development and deployment of diagnostic testing strategies. This review offers a comprehensive, data-driven overview of 2932 articles with regional epidemiological estimates and the occurrence and prevalence of 548 genes associated with ataxia across 122 countries. Regional differences in epidemiology and phenotypic spectra are highlighted, driving an approach that incorporates complementary diagnostic test results and how these may inform cost-effective, region-specific genetic testing. All data are also publicly available as an online database, the MDSGene Global Genetic Ataxia Resource, accessible at https://www.mdsgene.org/ataxia.html. A phenotype-guided, tailored, and sequential testing approach is proposed, based on regional prevalence, to assist clinicians worldwide in diagnosing individuals with presumed genetic ataxia, of which at least 45 causes are treatable. This approach is particularly important in underserved regions, but also in developed countries where health systems limit access to genetic testing, improving the cost-effectiveness and feasibility of genetic testing in these areas. Future screening studies in high-income settings should adopt a more comprehensive approach, integrating broader genetic testing that covers the full range of genetic ataxias. Capacity building for genetic screening in underserved regions, particularly in Africa, South America, and the Middle East, should be prioritized. © 2025 International Parkinson and Movement Disorder Society.
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.