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 thi...

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Bibliographic Details
Published inPediatric neurology Vol. 33; no. 2; pp. 136 - 138
Main Authors Felling, Ryan J., Barron, Todd F.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.08.2005
Subjects
Age of Onset
Child, Preschool
Humans
Male
Nerve Tissue Proteins - genetics
RNA, Long Noncoding
RNA, Untranslated
Spinocerebellar Ataxias - genetics
Spinocerebellar Ataxias - physiopathology
Spinocerebellar Degenerations - genetics
Spinocerebellar Degenerations - physiopathology
Trinucleotide Repeat Expansion
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Summary: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.
Bibliography:ObjectType-Case Study-3
SourceType-Scholarly Journals-1
content type line 23
ObjectType-Review-1
ObjectType-Feature-5
ObjectType-Report-2
ObjectType-Article-4
ISSN:0887-8994
1873-5150
DOI:10.1016/j.pediatrneurol.2005.02.010