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Jun-Sang Sunwoo 1 Article
A Case of Juvenile Huntington Disease in a 6-Year-Old Boy
Jun-Sang Sunwoo, Soon-Tae Lee, Manho Kim
J Mov Disord. 2010;3(2):45-47.
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AbstractAbstract PDF

Huntington disease is a neurodegenerative disorder distinguished by the triad of dominant inheritance, choreoathetosis and dementia, usually with onset in the fourth and fifth decades. It is caused by an unstable cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the gene IT15 in locus 4p16.3. Juvenile HD that constitutes about 3% to 10% of all patients is clinically different from adult-onset form and characterized by a larger number of CAG repeats typically exceeding 60. We report a case of a 6-year-old boy with myoclonic seizure and 140 CAG repeats confirmed by molecular genetic analysis.


Citations to this article as recorded by  
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  • Introducing an expanded CAG tract into the huntingtin gene causes a wide spectrum of ultrastructural defects in cultured human cells
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