ReviewJournal of neurology, neurosurgery, and psychiatry2004
Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports.
Review in Journal of neurology, neurosurgery, and psychiatry, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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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
21 citing papers in PubMed, 1 synthesis or guideline pooled it.
- PSP-Phenotype in SCA8: Case Report and Systemic Review.Cerebellum (London, England) · 2019Pooled it
- Comprehensive Characterization of Clinical Phenotypes and CTG Repeat-Associated Manifestations in Spinocerebellar Ataxia Type 8.Cerebellum (London, England) · 2026Article
- Hemichorea as the sole clinical manifestation of spinocerebellar ataxia type 8: a case report.BMC neurology · 2025Article
- Cerebral cortical functional hyperconnectivity in a mouse model of spinocerebellar ataxia type 8 (SCA8).Neurobiology of disease · 2025Article
- Sequencing and characterizing short tandem repeats in the human genome.Nature reviews. Genetics · 2024Review
- Cerebral cortical functional hyperconnectivity in a mouse model of spinocerebellar ataxia type 8 (SCA8).bioRxiv : the preprint server for biology · 2024Article
- A Review of Ocular Movement Abnormalities in Hereditary Cerebellar Ataxias.Cerebellum (London, England) · 2024Review
- Clinical and neuroimaging review of triplet repeat diseases.Japanese journal of radiology · 2023Review
- Chinese abnormal compound heterozygote spinocerebellar ataxia type 8: a case report.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.EMBO molecular medicine · 2021Article
- An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics.Acta neuropathologica communications · 2021Review
- The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins.Internal medicine (Tokyo, Japan) · 2020Article
- Genetic and clinical analyses of spinocerebellar ataxia type 8 in mainland China.Journal of neurology · 2019Article
- Epilepsy in spinocerebellar ataxia type 8: a case report.Journal of medical case reports · 2019Article
- SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F.The EMBO journal · 2018Article
- Noncoding repeat expansions for ALS in Japan are associated with theNeurology. Genetics · 2018Article
- Cognitive Changes in the Spinocerebellar Ataxias Due to Expanded Polyglutamine Tracts: A Survey of the Literature.Brain sciences · 2017Review
- Oromandibular and lingual dystonia associated with spinocerebellar ataxia type 8.Movement disorders : official journal of the Movement Disorder Society · 2012Article
- Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.Orphanet journal of rare diseases · 2011Review
- Cognitive and social cognitive functioning in spinocerebellar ataxia : a preliminary characterization.Journal of neurology · 2008Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesTo establish whether the DNA expansion linked to spinocerebellar ataxia type 8 (SCA 8) is associated with ataxia in Scotland; to clarify the range of associated clinical phenotypes; and to compare the findings with previous reports.
methodsDNA was screened from 1190 anonymised controls, 137 subjects who had tested negative for Huntington's disease, 176 with schizophrenia, and 173 with undiagnosed ataxia. Five unrelated ataxic patients with the SCA 8 expansion and a sixth identified subsequently had clinical and psychometric assessment; the clinical features were available in a seventh. A systematic search for other reports of SCA 8 was undertaken.
resultsOver 98% of SCA 8 CTA/CTG repeat lengths fell between 14 and 40. Repeat lengths over 91 were observed in three healthy controls (0.12%), two patients with suspected Huntington's disease (0.73%), and six ataxic subjects (1.74%; p<0.0005 v healthy controls). Repeat lengths over 100 occurred in five ataxic subjects but in only one control. All seven symptomatic subjects with the SCA 8 expansion had a cerebellar syndrome; four had upper motor neurone signs; and 5/6 assessed had cognitive complaints. There was personality change in two and mood disturbance in three. In published reports, SCA 8 repeat lengths over 91 occurred in approximately 0.5% of the healthy population but were over-represented among ataxic patients (3.4%; p<0.0001). The predominant clinical phenotype was cerebellar, with pyramidal signs in 50%, and neuropsychiatric features in some cases.
conclusionsSCA 8 expansion is a risk factor for a cerebellar syndrome, often associated with upper motor neurone and neuropsychiatric features. The expansion occurs unexpectedly often in the general population.
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