ReviewCerebellum & ataxias2017
Systematic review of autosomal recessive ataxias and proposal for a classification.
Review in Cerebellum & ataxias, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
32 citing papers in PubMed, 72 citations in OpenAlex.
- Neuroimaging in Cerebellar Ataxias: A Diagnostic Approach.Cerebellum (London, England) · 2025Review
- Hereditary Ataxias in Argentina.Cerebellum (London, England) · 2025Review
- Clinical whole Exome Sequencing Reveals Novel Homozygous Missense Variant in thePakistan journal of medical sciences · 2024Article
- An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.Cerebellum (London, England) · 2024Review
- Autosomal Recessive Cerebellar Ataxias: New Acronyms, Old Eponyms, and the Butterfly Life Cycle.Movement disorders clinical practice · 2023Article
- Recurrent Acute Liver Failure in a Bahraini Child With a Novel Mutation of Spinocerebellar Ataxia-21.Cureus · 2023Article
- Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.Neurology. Genetics · 2022Article
- [Genetic distribution in Chinese patients with hereditary peripheral neuropathy].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2022Article
- Lipid Dyshomeostasis and Inherited Cerebellar Ataxia.Molecular neurobiology · 2022Review
- Genotype-phenotype correlates in Joubert syndrome: A review.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- A Novel SETX Mutation in a Taiwanese Patient with Autosomal Recessive Cerebellar Ataxia Detected by Targeted Next-Generation Sequencing, and a Literature Review.Brain sciences · 2022Article
- Autosomal recessive adult onset ataxia.Journal of neurology · 2022Article
- Conventional MRI findings in hereditary degenerative ataxias: a pictorial review.Neuroradiology · 2021Review
- High-resolution transcriptional landscape of xeno-free human induced pluripotent stem cell-derived cerebellar organoids.Scientific reports · 2021Article
- Zebrafish Models of Autosomal Recessive Ataxias.Cells · 2021Review
- Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience.Brain sciences · 2021Article
- Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.Movement disorders clinical practice · 2020Article
- Movement Disorders in Genetic Pediatric Ataxias.Movement disorders clinical practice · 2020Review
- Extending the Phenotypic Spectrum Associated withMovement disorders clinical practice · 2020Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe classification of autosomal recessive ataxias represents a significant challenge because of high genetic heterogeneity and complex phenotypes. We conducted a comprehensive systematic review of the literature to examine all recessive ataxias in order to propose a new classification and properly circumscribe this field as new technologies are emerging for comprehensive targeted gene testing.
methodsWe searched Pubmed and Embase to identify original articles on recessive forms of ataxia in humans for which a causative gene had been identified. Reference lists and public databases, including OMIM and GeneReviews, were also reviewed. We evaluated the clinical descriptions to determine if ataxia was a core feature of the phenotype and assessed the available evidence on the genotype-phenotype association. Included disorders were classified as primary recessive ataxias, as other complex movement or multisystem disorders with prominent ataxia, or as disorders that may occasionally present with ataxia.
resultsAfter removal of duplicates, 2354 references were reviewed and assessed for inclusion. A total of 130 articles were completely reviewed and included in this qualitative analysis. The proposed new list of autosomal recessive ataxias includes 45 gene-defined disorders for which ataxia is a core presenting feature. We propose a clinical algorithm based on the associated symptoms.
conclusionWe present a new classification for autosomal recessive ataxias that brings awareness to their complex phenotypes while providing a unified categorization of this group of disorders. This review should assist in the development of a consensus nomenclature useful in both clinical and research applications.
Indexed as
Identifiers
What OpenQuestion holds
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.