Abstract
Spinocerebellar ataxia type 7 (SCA7) is a neuro-degenerative disorder characterised by progressive cerebellar ataxia and macular degeneration. SCA7 is one of the least common genetically verified autosomal dominant cerebellar ataxias (ADCAs) in the world (4.5 to 11.6%), but in Sweden and Finland SCA7 is the most commonly identified form of ADCA. In an inventory of hereditary ataxias in Scandinavia (Sweden, Norway, Denmark and Finland) we identified 15 SCA7 families, eight in Sweden and seven in Finland, while no cases of SCA7 could be found in Norway or Denmark. We examined whether the relatively high frequency of SCA7 families in Sweden and Finland was the result of a common founder effect. Only two out of 15 families could be connected genealogically. However, an extensive haplotype analysis over a 10.2 cM region surrounding the SCA7 gene locus showed that all 15 families studied shared a common haplotype over at least 1.9 cM. This strongly suggests that all Scandinavian SCA7 families originate from a common founder pre-mutation.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Jonasson, J., Juvonen, V., Sistonen, P. et al. Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia. Eur J Hum Genet 8, 918–922 (2000). https://doi.org/10.1038/sj.ejhg.5200557
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/sj.ejhg.5200557
Keywords
This article is cited by
Genetic Epidemiology and Clinical Characteristics of Patients with Spinocerebellar Ataxias in an Unexplored Brazilian State, Using Strategies for Resource-Limited Settings
The Cerebellum (2023)
Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean
The Cerebellum (2020)
Spinocerebellar ataxia
Nature Reviews Disease Primers (2019)
Molecular Targets and Therapeutic Strategies in Spinocerebellar Ataxia Type 7
Neurotherapeutics (2019)
Clinical and genetic analysis of spinocerebellar ataxia type 7 (SCA7) in Zambian families
Cerebellum & Ataxias (2017)