ReviewMovement disorders clinical practice
Genetic Dystonia-ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options.
Review in Movement disorders clinical practice. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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Who cites it
19 citing papers in PubMed, 36 citations in OpenAlex.
- The cerebellum in dystonia: key player or background support?Arquivos de neuro-psiquiatria · 2025Review
- Past, present, and future of genomic technologies in cerebellar ataxias.Journal of neurology · 2025Review
- Cerebellar and extra-cerebellar symptoms in movement disorders.Arquivos de neuro-psiquiatria · 2025Review
- Hereditary Ataxias in Argentina.Cerebellum (London, England) · 2025Review
- A Novel ANO3 Gene Mutation Associated with a Dystonia-Ataxia Syndrome.Movement disorders clinical practice · 2024Article
- α-Methylacyl-CoA Racemase Deficiency in a Patient with Ataxia, Spasticity, and Segmental Dystonia.Movement disorders clinical practice · 2024Article
- A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family.Movement disorders clinical practice · 2024Article
- Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.Brain : a journal of neurology · 2024Article
- Canine paroxysmal dyskinesia-a review.Frontiers in veterinary science · 2024Review
- Cerebellar Dysfunction as a Source of Dystonic Phenotypes in Mice.Cerebellum (London, England) · 2023Article
- Dystonia as Presenting Feature of Compound Heterozygous PMPCA Gene Variants.Movement disorders clinical practice · 2023Article
- Dystonia in Childhood: How Insights from Paediatric Research Enrich the Network Theory of Dystonia.Advances in neurobiology · 2023Article
- Emerging cellular themes in leukodystrophies.Frontiers in cell and developmental biology · 2022Review
- Metals and Metal-Nanoparticles in Human Pathologies: From Exposure to Therapy.Molecules (Basel, Switzerland) · 2021Review
- Challenges in Clinicogenetic Correlations: One Phenotype - Many Genes.Movement disorders clinical practice · 2021Review
- Myoclonus-Ataxia Syndromes: A Diagnostic Approach.Movement disorders clinical practice · 2021Review
- Review
- Functionally Relevant Maculopathy and Optic Atrophy in Spinocerebellar Ataxia Type 1.Movement disorders clinical practice · 2020Article
- Extending the Phenotypic Spectrum Associated withMovement disorders clinical practice · 2020Article
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 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDystonia and ataxia are manifestations of numerous disorders, and indeed, an ever-expanding spectrum of genes causing diseases that encompass dystonia and ataxia are discovered with the advances of genetic techniques. In recent years, a pathophysiological link between both clinical features and the role of the cerebellum in the genesis of dystonia, in some cases, has been proposed. In clinical practice, the genetic diagnosis of dystonia-ataxia syndromes is a major issue for genetic counseling, prognosis and, occasionally, specific treatment.
methodsFor this pragmatic and educational review, we conducted a comprehensive and structured literature search in Pubmed, OMIM, and GeneReviews using the key words "dystonia" and "ataxia" to identify those genetic diseases that may combine dystonia with ataxia.
resultsThere are a plethora of genetic diseases causing dystonia and ataxia. We propose a series of clinico-radiological algorithms to guide their differential diagnosis depending on the age of onset, additional neurological or systemic features, and imaging findings. We suggest a sequential diagnostic approach to dystonia-ataxia syndromes. We briefly highlight the pathophysiological links between dystonia and ataxia and conclude with a review of specific treatment implications.
conclusionsThe clinical approach presented in this review is intended to improve the diagnostic success of clinicians when faced with patients with dystonia-ataxia syndromes.
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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.