SynthesisTremor and other hyperkinetic movements (New York, N.Y.)2023
Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.
Synthesis in Tremor and other hyperkinetic movements (New York, N.Y.), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 17 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.
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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
17 citing papers in PubMed, 26 citations in OpenAlex.
- CACNA1A c.5610del in a three-generation family: epilepsy with ataxia/migraine.BMC neurology · 2026Article
- Article
- Treatment of primary adult-onset neurodegenerative cerebellar ataxias.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Review
- Correction: Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.Tremor and other hyperkinetic movements (New York, N.Y.) · 2025Article
- An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.Cerebellum (London, England) · 2024Review
- Article
- A Review of theDiseases (Basel, Switzerland) · 2024Review
- Acute Myopic Shift after a Single Dose of Acetazolamide: A Case Report and Review of the Literature.Klinische Monatsblatter fur Augenheilkunde · 2024Review
- Review
- Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.Clinical and translational medicine · 2024Review
- Genetic Background of Epilepsy and Antiepileptic Treatments.International journal of molecular sciences · 2023Review
- Integration of multi-omics technologies for molecular diagnosis in ataxia patients.Frontiers in genetics · 2023Article
- Case report: Episodic ataxia without ataxia?Frontiers in neurology · 2023Article
- Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients.Brain communications · 2023Article
- Vestibular Loss and Cerebellar Ataxia: A Practical Approach.Ear and hearingReview
- Clinical characterization of a novel episodic ataxia in young working Cocker Spaniels.Journal of veterinary internal medicineArticle
- Diagnostic approach to episodic ataxia types 1 and 2: a proposed algorithm for limited resource-settings.Frontiers in neurologyArticle
Corrections and comments
- Erratum issued
Authors and funding
1 author at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Episodic ataxia (EA), characterized by recurrent attacks of cerebellar dysfunction, is the manifestation of a group of rare autosomal dominant inherited disorders. EA1 and EA2 are most frequently encountered, caused by mutations in Methods: A systematic literature review was performed in October 2022 for 'episodic ataxia' and 'paroxysmal ataxia', restricted to publications in the last 10 years to focus on recent clinical advances. Clinical, genetic, and treatment characteristics were summarized. Results: EA1 and EA2 phenotypes have further broadened. In particular, EA2 may be accompanied by other paroxysmal disorders of childhood with chronic neuropsychiatric features. New treatments for EA2 include dalfampridine and fampridine, in addition to 4-aminopyridine and acetazolamide. There are recent proposals for EA9-10. EA may also be caused by gene mutations associated with chronic ataxias ( Discussion: EA may be overlooked or misdiagnosed for a variety of reasons, including phenotype-genotype variability and clinical overlap between primary and secondary causes. EA is highly treatable, so it is important to consider in the differential diagnosis of paroxysmal disorders. Classical EA1 and EA2 phenotypes prompt single gene test and treatment pathways. For atypical phenotypes, next generation genetic testing can aid diagnosis and guide treatment. Updated classification systems for EA are discussed which may assist diagnosis and management.
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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 Socratic graph.