ArticleActa neurologica Scandinavica2015
Bolivian kindred with combined spinocerebellar ataxia types 2 and 10.
Article in Acta neurologica Scandinavica, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- Epidemiology of Autosomal Dominant Spinocerebellar Ataxias in Latin America: A Systematic Review and Meta-Analysis.Cerebellum (London, England) · 2025Pooled it
- Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series.Journal of neurology · 2025Article
- Demographics and Clinical Characteristics of Autosomal Dominant Spinocerebellar Ataxia in Canada.Movement disorders clinical practice · 2023Article
- Mechanistic and Therapeutic Insights into Ataxic Disorders with Pentanucleotide Expansions.Cells · 2022Review
- Review
- The genetic and molecular features of the intronic pentanucleotide repeat expansion in spinocerebellar ataxia type 10.Frontiers in genetics · 2022Review
- Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean.Cerebellum (London, England) · 2020Review
- Spinocerebellar ataxia type 10 (SCA10): Mutation analysis and common haplotype based inference suggest its rarity in Indian population.eNeurologicalSci · 2019Article
- The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review.Movement disorders clinical practice · 2019Review
- Parkinson's disease associated with pureNPJ Parkinson's disease · 2017Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundSpinocerebellar ataxias (SCA) are a group of rare hereditary neurodegenerative disorders. Rare cases of two SCA mutations in the same individual have been reported in the literature, however, family descriptions are lacking.
aimsTo characterize a family with combined SCA2 and SCA10 mutations. MATERIALS &
methodsAnalysis of the clinical features and genetic findings of a Bolivian family expressing both SCA2 and SCA10 mutations.
resultsThe index case and his mother had both SCA2 and SCA10 mutations with a combined clinical phenotype of both disorders, including slow saccades (SCA2) and seizures (SCA10). The uncle of the index case had only an SCA10 mutation. DISCUSSION: Although the presence of two SCA mutations in the same individuals may be coincidental, the low probability of having both mutations suggests that these mutations might be particularly prevalent in Bolivian population.
conclusionThis is the first description of a family with two SCA mutations with affected subjects having a combined SCA2 and SCA10 phenotype.
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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.