ReviewCerebellum (London, England)2020
The Pathophysiology and Clinical Manifestations of Spinocerebellar Ataxia Type 6.
Review in Cerebellum (London, England), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Epidemiology of Spinocerebellar Ataxias in Europe.Cerebellum (London, England) · 2024Pooled it
- The Oldest Known Case of SCA6: Diagnostic Insights from a 101-Year-Old Woman with Progressive Ataxia.Movement disorders clinical practice · 2026Article
- Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis.European journal of neurology · 2024Article
- Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration.Cerebellum (London, England) · 2024Article
- A Review of theDiseases (Basel, Switzerland) · 2024Review
- A Review of Ocular Movement Abnormalities in Hereditary Cerebellar Ataxias.Cerebellum (London, England) · 2024Review
- Disability in cerebellar ataxia syndromes is linked to cortical degeneration.Journal of neurology · 2023Article
- Analysis and hierarchical clustering of infratentorial morphological MRI identifies SCAs phenogroups.Journal of neurology · 2023Article
- Visual oculomotor abnormalities and vestibulo‑ocular reflex dynamics in polyglutamine spinocerebellar ataxias (Review).Experimental and therapeutic medicine · 2023Review
- Incidence of different pressure patterns of spinal cerebellar ataxia and analysis of imaging and genetic diagnosis.Open life sciences · 2023Article
- The Emerging Key Role of the mGluR1-PKCγ Signaling Pathway in the Pathogenesis of Spinocerebellar Ataxias: A Neurodevelopmental Viewpoint.International journal of molecular sciences · 2022Review
- The complexities of CACNA1A in clinical neurogenetics.Journal of neurology · 2022Article
- Novel Mutation inCase reports in neurological medicine · 2021Article
- Ophthalmic Manifestations and Genetics of the Polyglutamine Autosomal Dominant Spinocerebellar Ataxias: A Review.Frontiers in neuroscience · 2020Review
Corrections and comments
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Authors and funding
4 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinocerebellar ataxias (SCA) constitute of a group of degenerative and progressive disorders that can be identified on a molecular and cellular basis. Along with histological changes, the clinical presentation of SCA differs between subtypes. In addition to basic cerebellar dysfunction symptoms, patients with SCA develop gait ataxia, dysphagia, dysarthria, oculomotor disturbances, pyramidal and extrapyramidal disease signs, rigidity, bradycardia, sensory deficits, and mild cognitive and executive function decline. MRI scans have confirmed reduction in mass of frontal, temporal, and parietal portions of the brain along with the cerebellar peduncles, brainstem, and cranial nerve III. Clinically, these damages manifest as decline in cognition and problems with speech, contemplation, and vision. This review article compares the most prevalent subtypes of SCA based on genetic background, pathogenesis, neurological manifestations, other presenting symptoms, and diagnostic workup. Further goals of research in this field should be directed towards a cure for SCA, which currently does not exist.
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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.