ArticleAmerican journal of human genetics2003
SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 81 citations in OpenAlex.
- PSP-Phenotype in SCA8: Case Report and Systemic Review.Cerebellum (London, England) · 2019Pooled it
- Short tandem repeat expansions in patients with neurodegenerative dementia.EBioMedicine · 2026Article
- A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Diagnosis of hereditary ataxias: a real-world single center experience.Journal of 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
- A Novel Co-existence of Spinocerebellar Ataxia 1 and Spinocerebellar Ataxia 2 Mutations in Indian Patients.Movement disorders clinical practice · 2022Article
- Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool.Advanced genetics (Hoboken, N.J.) · 2022Article
- The Contribution of Somatic Expansion of the CAG Repeat to Symptomatic Development in Huntington's Disease: A Historical Perspective.Journal of Huntington's disease · 2021Review
- The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins.Internal medicine (Tokyo, Japan) · 2020Article
- Noncoding repeat expansions for ALS in Japan are associated with theNeurology. Genetics · 2018Article
- Bolivian kindred with combined spinocerebellar ataxia types 2 and 10.Acta neurologica Scandinavica · 2015Article
- Parkinsonism in spinocerebellar ataxia.BioMed research international · 2015Review
- Spinocerebellar Ataxia 2 and 12 Mutations in an Indian Family with Cerebellar Ataxia and Slow Saccades.Movement disorders clinical practice · 2014Article
- Altered GABAergic system in the living brain of a patient with spinocerebellar ataxia type 8.Journal of neurology · 2013Article
- Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease.Journal of clinical neurology (Seoul, Korea) · 2013Article
- Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias.European journal of human genetics : EJHG · 2010Article
- Identification of Dlk1, Ptpru and Klhl1 as novel Nurr1 target genes in meso-diencephalic dopamine neurons.Development (Cambridge, England) · 2009Article
- SCA8 repeat expansion: large CTA/CTG repeat alleles in neurological disorders and functional implications.Human genetics · 2009Article
- Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes.Cerebellum (London, England) · 2008Article
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12 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We analyzed the SCA8 CTA/CTG repeat in a large group of Japanese subjects. The frequency of large alleles (85-399 CTA/CTG repeats) was 1.9% in spinocerebellar ataxia (SCA), 0.4% in Parkinson disease, 0.3% in Alzheimer disease, and 0% in a healthy control group; the frequency was significantly higher in the group with SCA than in the control group. Homozygotes for large alleles were observed only in the group with SCA. In five patients with SCA from two families, a large SCA8 CTA/CTG repeat and a large SCA6 CAG repeat coexisted. Age at onset was correlated with SCA8 repeats rather than SCA6 repeats in these five patients. In one of these families, at least one patient showed only a large SCA8 CTA/CTG repeat allele, with no large SCA6 CAG repeat allele. We speculate that the presence of a large SCA8 CTA/CTG repeat allele influences the function of channels such as alpha(1A)-voltage-dependent calcium channel through changing or aberrant splicing, resulting in the development of cerebellar ataxia, especially in homozygous patients.
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