ReviewMovement disorders clinical practice2021
Myoclonus-Ataxia Syndromes: A Diagnostic Approach.
Review in Movement disorders clinical practice, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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Who cites it
12 citing papers in PubMed, 27 citations in OpenAlex.
- Movement Disorders in Developmental and Epileptic Encephalopathies.Movement disorders clinical practice · 2026Review
- Genetic Landscape of Opsoclonus-Myoclonus-Ataxia Syndrome in Children.Pediatric neurology · 2025Article
- Cerebellar and extra-cerebellar symptoms in movement disorders.Arquivos de neuro-psiquiatria · 2025Review
- A Novel Myoclonus-Ataxic Presentation of Chronic Lead Toxicity.Movement disorders clinical practice · 2025Article
- Case Report of Myoclonus-Ataxia Syndrome in an Indian Patient Due to SCNA1 Gene Mutation.Movement disorders clinical practice · 2025Article
- Advances in Gene Therapy with Oncolytic Viruses and CAR-T Cells and Therapy-Related Groups.Current issues in molecular biology · 2025Review
- Hereditary Ataxias in Argentina.Cerebellum (London, England) · 2025Review
- Two Cases of Genetically Proven SCARB2-Related Progressive Myoclonic Epilepsy Without Renal Failure: A Report From India.Journal of movement disorders · 2025Article
- Navigating the diagnostic challenges of myoclonus in neurodegenerative disorders: video-EEG/polygraphy, clinical vignettes, and narrative analysis.Frontiers in neurology · 2025Article
- Vladislav Dzerzhinsky (1881-1942).Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- DHDDS and NUS1: A Converging Pathway and Common Phenotype.Movement disorders clinical practice · 2024Review
- The Muddle of Myoclonus: Many Guises, 2 Disciplines, Consensus Needed.Neurology. Clinical practice · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundA myriad of disorders combine myoclonus and ataxia. Most causes are genetic and an increasing number of genes are being associated with myoclonus-ataxia syndromes (MAS), due to recent advances in genetic techniques. A proper etiologic diagnosis of MAS is clinically relevant, given the consequences for genetic counseling, treatment, and prognosis.
objectivesTo review the causes of MAS and to propose a diagnostic algorithm.
methodsA comprehensive and structured literature search following PRISMA criteria was conducted to identify those disorders that may combine myoclonus with ataxia.
resultsA total of 135 causes of combined myoclonus and ataxia were identified, of which 30 were charted as the main causes of MAS. These include four acquired entities: opsoclonus-myoclonus-ataxia syndrome, celiac disease, multiple system atrophy, and sporadic prion diseases. The distinction between progressive myoclonus epilepsy and progressive myoclonus ataxia poses one of the main diagnostic dilemmas.
conclusionsDiagnostic algorithms for pediatric and adult patients, based on clinical manifestations including epilepsy, are proposed to guide the differential diagnosis and corresponding work-up of the most important and frequent causes of MAS. A list of genes associated with MAS to guide genetic testing strategies is provided. Priority should be given to diagnose or exclude acquired or treatable disorders.
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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.