ReviewCerebellum (London, England)2020
Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean.
Review in Cerebellum (London, England), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses 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
33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- Machado-Joseph disease in Brazil and other South American countries: A systematic Review and Meta-analysis of Prevalence, CAG Repeat Lengths, Age At Onset, and Ancestry.Cerebellum (London, England) · 2025Pooled it
- Epidemiology of Autosomal Dominant Spinocerebellar Ataxias in Latin America: A Systematic Review and Meta-Analysis.Cerebellum (London, England) · 2025Pooled it
- Founder mutations in movement disorders: global distribution, molecular mechanisms, and clinical consequences-a scoping review.Neurogenetics · 2026Article
- The Real Life of Ataxia Patients Without a Vertical Family History: a Twenty-year Experience in South Brazil.Cerebellum (London, England) · 2026Article
- Trends and Disparities in Mortality from Hereditary Ataxia in United States, 2000-2020: A Retrospective Analysis with Projections to 2050.Cerebellum (London, England) · 2026Article
- Improving the Identification of the Preclinical Stages of Spinocerebellar Ataxia Type 2.Tomography (Ann Arbor, Mich.) · 2026Article
- Auditory P300 Potentials as State Biomarkers for Mild-to-Moderate Depression in Spinocerebellar Ataxia Type 2.Cerebellum (London, England) · 2026Article
- Frontal ataxia: a frequent but underrecognized disorder in the spectrum of ataxias.Arquivos de neuro-psiquiatria · 2026Article
- Integrated Plasma and Glial Cell Evidence Indicates a Functional Role for hsa-miR-342-5p in Spinocerebellar Ataxia Type 7 and Its Potential Use as a Biomarker.International journal of molecular sciences · 2026Article
- The Case of Spinocerebellar Ataxias in Amazonas (Northern Brazil): An Analysis of Disease Frequency from a Geographic, Historical, and Genetic-Evolutionary Perspective.Cerebellum (London, England) · 2025Article
- Long-read sequencing identifies ATXN3 repeat expansions, and transcriptomics reveals disease progression biomarkers and druggable targets for spinocerebellar ataxia type 3.BMC neurology · 2025Article
- Clinical and Genetic Characterization of the Largest Cohort of Patients With D3 Limb-Girdle Muscular Dystrophy in an Isolated Uruguayan Population.European journal of neurology · 2025Article
- Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- Evaluating Glial Fibrillary Acidic Protein and Neurofilament Light as Potential Biomarkers for Spinocerebellar Ataxia 7.International journal of molecular sciences · 2025Article
- Cross-Cultural Adaptation of the Patient-Reported Outcome Measure of Ataxia: the Brazilian Version of PROM-Ataxia.Cerebellum (London, England) · 2025Article
- Hereditary Ataxias in Argentina.Cerebellum (London, England) · 2025Review
- Rural Environment as a Risk Factor for the Age at Onset of Machado-Joseph Disease.Movement disorders clinical practice · 2025Article
- ATXN10 Gene Expansions in Mexican Patients with Ataxia Without Epilepsy.Cerebellum (London, England) · 2025Article
- Current Overview of Spinocerebellar Ataxia Type 7 in Mexican Population: Challenges in Specialized Care for a Rare Disease.International journal of molecular sciences · 2024Review
- Extended haplotype with rs41524547-G defines the ancestral origin of SCA10.Human molecular genetics · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 9 institutions in 4 countries.
Funding
Abstract
Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of autosomal dominant disorders. The relative frequency of the different SCA subtypes varies broadly among different geographical and ethnic groups as result of genetic drifts. This review aims to provide an update regarding SCA founders in the American continents and the Caribbean as well as to discuss characteristics of these populations. Clusters of SCAs were detected in Eastern regions of Cuba for SCA2, in South Brazil for SCA3/MJD, and in Southeast regions of Mexico for SCA7. Prevalence rates were obtained and reached 154 (municipality of Báguano, Cuba), 166 (General Câmara, Brazil), and 423 (Tlaltetela, Mexico) patients/100,000 for SCA2, SCA3/MJD, and SCA7, respectively. In contrast, the scattered families with spinocerebellar ataxia type 10 (SCA10) reported all over North and South Americas have been associated to a common Native American ancestry that may have risen in East Asia and migrated to Americas 10,000 to 20,000 years ago. The comprehensive review showed that for each of these SCAs corresponded at least the development of one study group with a large production of scientific evidence often generalizable to all carriers of these conditions. Clusters of SCA populations in the American continents and the Caribbean provide unusual opportunity to gain insights into clinical and genetic characteristics of these disorders. Furthermore, the presence of large populations of patients living close to study centers can favor the development of meaningful clinical trials, which will impact on therapies and on quality of life of SCA carriers worldwide.
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.