SynthesisCerebellum (London, England)2019
PSP-Phenotype in SCA8: Case Report and Systemic Review.
Synthesis in Cerebellum (London, England), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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.
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.
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Who cites it
15 citing papers in PubMed, 20 citations in OpenAlex.
- Upstream non-AUG initiation and ribosomal -1 frameshifting in ATXN8OS CTA/CTG repeat-associated translation.Nucleic acids research · 2026Article
- Novel Imaging Phenotype in Spinal Cerebellar Ataxia Type 8: Symmetrical White Matter Changes without Cerebellar Atrophy.Cerebellum (London, England) · 2026Article
- Short tandem repeat expansions in patients with neurodegenerative dementia.EBioMedicine · 2026Article
- Hemichorea as the sole clinical manifestation of spinocerebellar ataxia type 8: a case report.BMC neurology · 2025Article
- Non-coding repeat analyses in patients with Parkinson's disease.Frontiers in neurology · 2025Article
- Spinocerebellar ataxias masquerading as movement disorders: clinical and genetic characterization.Frontiers in neurology · 2025Article
- The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes.Cerebellum (London, England) · 2024Article
- Tremor in Spinocerebellar Ataxia: A Scoping Review.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024Article
- Memantine administration prevented chorea movement in Huntington's disease: a case report.Journal of medical case reports · 2023Article
- Spinocerebellar ataxia type 8 presents as progressive supranuclear palsy.Neurosciences (Riyadh, Saudi Arabia) · 2023Article
- CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.EMBO molecular medicine · 2021Article
- Ginsenoside Rg3 Prevents Oncogenic Long Noncoding RNA ATXN8OS from Inhibiting Tumor-Suppressive microRNA-424-5p in Breast Cancer Cells.Biomolecules · 2021Article
- The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins.Internal medicine (Tokyo, Japan) · 2020Article
- Disease-Causing Mutations and Rearrangements in Long Non-coding RNA Gene Loci.Frontiers in genetics · 2020Review
- Repeat-associated non-AUG (RAN) translation: insights from pathology.Laboratory investigation; a journal of technical methods and pathology · 2019Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinocerebellar ataxia type 8 (SCA8) is a rare autosomal dominant neurodegenerative disease caused by expanded CTA/CTG repeats in the ATXN8OS gene. Many patients had pure cerebellar ataxia, while some had parkinsonism, both without causal explanation. We analyzed the ATXN8OS gene in 150 Japanese patients with ataxia and 76 patients with Parkinson's disease or related disorders. We systematically reassessed 123 patients with SCA8, both our patients and those reported in other studies. Two patients with progressive supranuclear palsy (PSP) had mutations in the ATXN8OS gene. Systematic analyses revealed that patients with parkinsonism had significantly shorter CTA/CTG repeat expansions and older age at onset than those with predominant ataxia. We show the imaging results of patients with and without parkinsonism. We also found a significant inverse relationship between repeat sizes and age at onset in all patients, which has not been detected previously. Our results may be useful to genetic counseling, improve understanding of the pathomechanism, and extend the clinical phenotype of SCA8.
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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.