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Review
. 2005 Aug;33(2):136-8.
doi: 10.1016/j.pediatrneurol.2005.02.010.

Early onset of ataxia in a child with a pathogenic SCA8 allele

Ryan J Felling  1 , Todd F Barron
Affiliations
Review

Early onset of ataxia in a child with a pathogenic SCA8 allele

Ryan J Felling et al. Pediatr Neurol. 2005 Aug.

Abstract

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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