ReviewCerebellum (London, England)2011
A comprehensive review of spinocerebellar ataxia type 2 in Cuba.
Review in Cerebellum (London, England), 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
What it found
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
38 citing papers in PubMed, 86 citations in OpenAlex.
- Oral zinc sulphate supplementation for six months in SCA2 patients: a randomized, double-blind, placebo-controlled trial.Neurochemical research · 2011Trial
- The Role of D/H Isotope Exchange in Stabilizing Trinucleotide Repeat Expansions in the CAG Tract of the ATXN2 Gene.Doklady. Biochemistry and biophysics · 2026Article
- Mitochondrial DNA Haplogroups and Age at Onset of Spinocerebellar Ataxia Type 2: A Study in Indian Patients.Annals of Indian Academy of Neurology · 2026Article
- 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
- Respiratory Evaluation in Spinocerebellar ataxia Type 2.Cerebellum (London, England) · 2025Article
- The polyglutamine protein ATXN2: from its molecular functions to its involvement in disease.Cell death & disease · 2024Review
- Novel Therapeutic Approaches in Inherited Neuropathies: A Systematic Review.Pharmaceutics · 2023Review
- Moyamoya associated with Turner syndrome in a patient with type 2 spinocerebellar ataxia-Occam's razor or Hickam's dictum: a case report.BMC neurology · 2022Article
- Repeat RNA Toxicity Drives Ribosomal RNA Processing Defects in SCA2.Movement disorders : official journal of the Movement Disorder Society · 2021Article
- Clinical, Imaging, and Laboratory Markers of Premanifest Spinocerebellar Ataxia 1, 2, 3, and 6: A Systematic Review.Journal of clinical neurology (Seoul, Korea) · 2021Review
- EMG Rectification Is Detrimental for Identifying Abnormalities in Corticomuscular and Intermuscular Coherence in Spinocerebellar Ataxia Type 2.Cerebellum (London, England) · 2020Article
- The Relationships Between Ataxia and Cognition in Spinocerebellar Ataxia Type 2.Cerebellum (London, England) · 2020Article
- Spinocerebellar ataxia type 2 presenting with involuntary movement: a diagnostic dilemma.The Journal of international medical research · 2019Article
- An Affordable Method for Evaluation of Ataxic Disorders Based on Electrooculography.Sensors (Basel, Switzerland) · 2019Article
- Current molecular insight to reveal the dynamics of CAG repeating units in spinocerebellar ataxia.Intractable & rare diseases research · 2018Review
- Diagnosis of Spinocerebellar Ataxia in the West Indies.Tremor and other hyperkinetic movements (New York, N.Y.) · 2018Article
- The Multiple Faces of Spinocerebellar Ataxia type 2.Annals of clinical and translational neurology · 2017Review
- NESSCA Validation and Responsiveness of Several Rating Scales in Spinocerebellar Ataxia Type 2.Cerebellum (London, England) · 2017Article
- Atxn2 Knockout and CAG42-Knock-in Cerebellum Shows Similarly Dysregulated Expression in Calcium Homeostasis Pathway.Cerebellum (London, England) · 2017Article
- Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches.Frontiers in neurology · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar ataxia characterized by a progressive cerebellar syndrome associated to saccadic slowing, peripheral neuropathy, cognitive disorders, and other multisystem features. SCA2 is caused by the abnormal expansion of cytosine-adenine-guanine triplet repeats in the encoding region of the ATXN2 gene and therefore the expression of toxic polyglutamine expansions in the ataxin 2 protein, which cause progressive neuronal death of Purkinje cells in the cerebellum and several pontine, mesencephalic, and thalamic neurons among other cells. Worldwide, SCA2 is the second most frequent type of spinocerebellar ataxia, only surpassed by SCA3. Nevertheless, in Holguin, Cuba, the disease reaches the highest prevalence, resulting from a putative foundational effect. This review discusses the most important advances in the genotypical and phenotypical studies of SCA2, highlighting the comprehensive characterization reached in Cuba through clinical, neuroepidemiological, neurochemical, and neurophysiological evaluation of SCA2 patients and pre-symptomatic subjects, which has allowed the identification of new disease biomarkers and therapeutical opportunities. These findings provide guidelines, from a Cuban viewpoint, for the clinical management of the disease, its diagnosis, genetic counseling, and therapeutical options through rehabilitative therapy and/or pharmacological options.
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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.