title: A case of juvenile huntington disease in a 6-year-old boy.
abstract: 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.
authors.affiliation: Department of Neurology, Seoul National University Hospital, Seoul, Korea.
authors.forename: Jun-Sang
authors.initials: JS
authors.lastname: Sunwoo
authors.affiliation: Department of Neurology, Seoul National University Hospital, Seoul, Korea.
authors.forename: Soon-Tae
authors.initials: ST
authors.lastname: Lee
authors.affiliation: Department of Neurology, Seoul National University Hospital, Seoul, Korea.
authors.forename: Manho
authors.initials: M
authors.lastname: Kim
keywords: Juvenile Huntington disease; Seizure; Trinucleotide repeat expansions