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KMID : 1197720100030020045
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대한파킨슨병 및 이상운동질환 학회지
2010 Volume.3 No. 2 p.45 ~ p.47
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A Case of Juvenile Huntington Disease in a 6-Year-Old Boy
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Sunwoo Jun-Sang
Kim Man-Ho
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Abstract
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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.
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KEYWORD
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Juvenile Heuntington disease, Seizure, Trinucleotide repeat expansions
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