ArticleNeurogenetics2014
Founder effect and ancestral origin of the spinocerebellar ataxia type 7 (SCA7) mutation in Mexican families.
Article in Neurogenetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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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, 16 citations in OpenAlex.
- Founder mutations in movement disorders: global distribution, molecular mechanisms, and clinical consequences-a scoping review.Neurogenetics · 2026Article
- Hereditary Ataxias in Argentina.Cerebellum (London, England) · 2025Review
- ATXN10 Gene Expansions in Mexican Patients with Ataxia Without Epilepsy.Cerebellum (London, England) · 2025Article
- Retinal degeneration in spinocerebellar ataxia type 7: an overview of the current knowledge.Arquivos brasileiros de oftalmologia · 2025Review
- What is the Pathogenic CAG Expansion Length in Huntington's Disease?Journal of Huntington's disease · 2021Review
- Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7.Molecular vision · 2021Article
- Ophthalmic features of spinocerebellar ataxia type 7.Eye (London, England) · 2018Article
- Clinical and genetic analysis of spinocerebellar ataxia type 7 (SCA7) in Zambian families.Cerebellum & ataxias · 2017Article
- Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent.Journal of human genetics · 2016Article
- Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease.Case reports in neurological medicine · 2014Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant disease characterized by progressive cerebellar ataxia and macular degeneration causing progressive blindness. It accounts for 1 to 11.6 % of spinocerebellar ataxias (SCAs) cases worldwide and for 7.4 % of SCA7 cases in Mexico. We identified a cluster of SCA7 families who resided in a circumscribed area of Veracruz and investigated whether the high incidence of the disease in this region was due to a founder effect. A total of 181 individuals from 20 families were studied. Four microsatellite markers and one SNP flanking the ATNX7 gene were genotyped and the ancestral origin and local ancestry analysis of the SCA7 mutation were evaluated. Ninety individuals from 19 families had the SCA7 mutation; all were found to share a common haplotype, suggesting that the mutation in these families originated from a common ancestor. Ancestral origin and local ancestry analysis of SCA7 showed that the chromosomal segment containing the mutation was of European origin. We here present evidence strongly suggesting that the high frequency of SCA7 in Veracruz is due to a founder effect and that the mutation is most likely of European origin with greatest resemblance to the Finnish population.
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