AI Article Synopsis
- Spinocerebellar ataxia type 7 (SCA7) is a genetic neurodegenerative disorder caused by a mutation in the ataxin 7 gene, resulting in symptoms like progressive coordination issues and vision problems.
- While SCA7 is considered rare, there are noted founder effects in regions like South Africa, Scandinavia, and Mexico, indicating specific genetic lineages.
- This study presents the first identified Zambian families with SCA7, showing that a genetic link exists between Zambian and South African patients, suggesting a shared ancestry in the disease's development.
Article Abstract
Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by the expansion of a CAG repeat within the ataxin 7 gene, leading to a pathogenic polyglutamine tract within the ataxin 7 protein. SCA7 patients suffer from progressive cerebellar ataxia and macular degeneration. SCA7 is considered to be rare, although founder effects have been reported in South Africa, Scandinavia and Mexico. The South African SCA7-associated haplotype has not been investigated in any other populations, and there have been limited reports of SCA7 patients from other African countries. Here, we describe the first two ethnic Zambian families with confirmed SCA7. Haplotype analysis showed that the South African SCA7 haplotype alleles were significantly associated with the pathogenic expansion in affected Zambian individuals, providing strong evidence for a shared founder effect between South African and Zambian SCA7 patients.
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| http://dx.doi.org/10.1016/j.jns.2015.04.053 | DOI Listing |
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