Journal of Movement Disorders (Oct 2010)

A Case of Juvenile Huntington Disease in a 6-Year-Old Boy

  • Jun-Sang Sunwoo,
  • Soon-Tae Lee,
  • Manho Kim

DOI
https://doi.org/10.14802/jmd.10012
Journal volume & issue
Vol. 3, no. 2
pp. 45 – 47

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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