Early onset of ataxia in a child with a pathogenic SCA8 allele.
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.
Felling
Ryan J
RJ
Penn State University College of Medicine, Neural and Behavioral Sciences, Hershey, Pennsylvania 17033, USA.
Barron
Todd F
TF
D017668:Age of Onset; D002675:Child, Preschool; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000503:physiopathology*; D013132:Spinocerebellar Degenerations / Q000235:genetics* / Q000503:physiopathology*; D019680:Trinucleotide Repeat Expansion
C415906:ATXN8OS gene product, human; D009419:Nerve Tissue Proteins; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated