ArticleCerebellum (London, England)2020
Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients.
Article 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 24 papers, 3 of them syntheses that pooled it.
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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
24 citing papers in PubMed, 3 syntheses or guidelines pooled it, 37 citations in OpenAlex.
- Epidemiology of Autosomal Dominant Spinocerebellar Ataxias in Latin America: A Systematic Review and Meta-Analysis.Cerebellum (London, England) · 2025Pooled it
- Polyneuropathy in Patients with Spinocerebellar Ataxias Types 2, 3, and 10: A Systematic Review.Cerebellum (London, England) · 2024Pooled it
- Pooled it
- 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
- Monitoring the Progression of Pre-Ataxic Gait in SCA2 with Inertial Sensors Over Four Years.Cerebellum (London, England) · 2026Article
- Bioinformatic Analyses of the Ataxin-2 Family Since Algae Emphasize Its Small Isoforms, Large Chimerisms, and the Importance of Human Exon 1B as Target of Therapies to Prevent Neurodegeneration.International journal of molecular sciences · 2026Article
- Progression of Gait Ataxia in Spinocerebellar Ataxia Type 2: Clinical Utility of Digitally Measured Gait Metrics.Cerebellum (London, England) · 2025Article
- Isotopic H/D Exchange in Hydrogen Bonds Between the Nitrogenous Bases of the CAG Repeat Tract Makes It Possible to Stabilize Its Expansion in theBiomedicines · 2025Article
- Deep Learning-Based Assessment of Brainstem Volume Changes in Spinocerebellar Ataxia Type 2 (SCA2): A Study on Patients and Preclinical Subjects.Sensors (Basel, Switzerland) · 2025Article
- Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- Establishment of a humanized SCA2 mouse model carrying a CAA disruption preventing CAG repeat expansion in pathogenic genes.Animal models and experimental medicine · 2025Article
- Hereditary Ataxias in Argentina.Cerebellum (London, England) · 2025Review
- Molecular and cellular characteristics of cerebrovascular cell types and their contribution to neurodegenerative diseases.Molecular neurodegeneration · 2025Review
- COVID-19 Impacts the Mental Health and Speech Function in Spinocerebellar Ataxia Type 2: Evidences from a Follow-Up Study.Cerebellum (London, England) · 2024Article
- On the Cut-Off Value of the Anteroposterior Diameter of the Midbrain Atrophy in Spinocerebellar Ataxia Type 2 Patients.Brain sciences · 2024Article
- Tremor in Spinocerebellar Ataxia: A Scoping Review.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024Article
- Ataxia Rating Scales Reflect Patient Experience: an Examination of the Relationship Between Clinician Assessments of Cerebellar Ataxia and Patient-Reported Outcomes.Cerebellum (London, England) · 2023Article
- Cognitive Decline Is Closely Associated with Ataxia Severity in Spinocerebellar Ataxia Type 2: a Validation Study of the Schmahmann Syndrome Scale.Cerebellum (London, England) · 2022Article
- Impacts of the COVID-19 Pandemic on the Mental Health and Motor Deficits in Cuban Patients with Cerebellar Ataxias.Cerebellum (London, England) · 2021Article
Corrections and comments
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Authors and funding
27 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The prevalence estimations of hereditary ataxias are biased since most epidemiological studies are confined to isolated geographical regions and few nationwide studies are available. The study aims to assess the prevalence, distribution, and neurological features of the Cuban population with hereditary ataxias. A nationwide epidemiological study of hereditary ataxias was conducted in Cuba between March 2017 and June 2018. Patients were scheduled at the Cuban ataxia research center, various hospitals, or at their homes. Demographic and clinical variables were obtained through standardized questionnaires and validated clinical tools. Overall, 1001 patients were diagnosed with hereditary ataxias for a nationwide prevalence of 8.91 cases/100.000 inhabitants. Spinocerebellar ataxia type 2 (SCA2) was the commonest subtype, with highest prevalences at Holguín province (47.86/100.000), and a broad dissemination in the whole country. Most of neurological features were common between all SCA cohorts, but the frequencies of some of them varied between distinct subtypes. Within the SCA2 cohort, significant influences of long mutation size and higher disease duration over the muscle atrophy and oculomotor disorders were observed. Besides, higher disease durations were associated with resting tremor and dysphagia, whereas shorter disease durations were associated with hyperreflexia. The spreading of SCA2 to whole country and the documented raising of its prevalence set the rationales for higher-scope medical care and research strategies, supported in collaborative research networks. The wide epidemiological, clinical, and genetic characterization of this founder SCA2 population identifies this homogeneous cohort as an attractive source for the development of future clinical-genetic and therapeutic researches.
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