This case report describes a child with an expanded CTA/CTG repeat in one allele of the spinocerebellar ataxia 8 gene. This patient presented with ataxia at a much earlier age than is typical for patients with this condition. This unique patient further highlights the complexity of the role that this molecular defect plays in the onset and course of the disease.
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| http://dx.doi.org/10.1016/j.pediatrneurol.2005.02.010 | DOI Listing |
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